NCT01386515-77.1002638.98067TERMINATEDNational Human Genome Research Institute (NHGRI), 9000 Rockville PikeBethesdaMarylandUnited States NCT04060199-121.494438.58157COMPLETEDUniversity of California Davis Medical CenterSacramentoCaliforniaUnited States NCT04060199-87.6500541.85003COMPLETEDAnn and Robert H. Lurie Children's Hospital of ChicagoChicagoIllinoisUnited States NCT04060199153.02809-27.46794COMPLETEDQueensland Children's HospitalBrisbaneAustralia NCT04060199115.8073-31.98184COMPLETEDPerth Children's HospitalNedlandsAustralia NCT04060199150.98768-33.80383COMPLETEDThe Childrens Hospital at WestmeadWestmeadAustralia NCT04060199-79.3986443.70643COMPLETEDThe Hospital for Sick Children (SickKids)TorontoOntarioCanada NCT04060199-114.0852951.05011COMPLETEDAlberta Children's HospitalCalgaryCanada NCT04060199-71.2145446.81228COMPLETEDCHU de Quebec Research CentreQuébecCanada NCT04060199-70.64827-33.45694COMPLETEDHospital de Niños Roberto del RioSantiagoChile NCT04060199-70.64827-33.45694COMPLETEDPontificia Universidad Católica de ChileSantiagoChile NCT04060199116.3972339.9075COMPLETEDChinese PLA General HospitalBeijingChina NCT04060199116.3972339.9075COMPLETEDThe Third Medical Center of PLA General HospitalBeijingChina NCT04060199112.9708728.19874COMPLETEDHunan Children's HospitalChangshaChina NCT04060199121.4580631.22222COMPLETEDChildren's Hospital of Fudan UniversityShanghaiChina NCT04060199114.068322.54554COMPLETEDShenzhen Children's HospitalShenzhenChina NCT0406019923.7278437.98376COMPLETEDAgia Sofia Children's HospitalAthensGreece NCT0406019922.9349340.64072COMPLETEDHippokration General Hospital of ThessalonikiThessalonikiGreece NCT04060199114.2077722.32662COMPLETEDHong Kong Children's HospitalKowloon BayHong Kong NCT0406019912.5113341.89193COMPLETEDFondazione Policlinico Universitario A. Gemelli - Universita Cattolica del Sacro CuoreRomeItaly NCT04060199-106.0888928.63528COMPLETEDHospital Angeles ChihuahuaChihuahua CityMexico NCT04060199-99.1276619.42847COMPLETEDInstituto Nacional de PediatriaMexico CityMexico NCT040601995.8527851.8425COMPLETEDRadboud Universitair Medisch CentrumNijmegenGelderlandNetherlands NCT040601994.4930652.15833COMPLETEDLeids Universitair Medisch CentrumLeidenNetherlands NCT04060199174.76349-36.84853COMPLETEDNew Zealand Clinical Research LtdAucklandNew Zealand NCT0406019910.7460959.91273COMPLETEDRikshospitaletOsloNorway NCT0406019937.6178155.75204COMPLETEDRussian National Research Medical University n.a. N.I.Pirogov, structural branch - Research Clinical Institute of Pediatrics n.a. Academician Yu. E. VeltishchevMoscowRussia NCT0406019930.3141359.93863COMPLETED"Saint Petersburg State Paediatric Medical University" based at Consultative and Diagnostic CentreSaint PetersburgRussia NCT0406019984.9821656.50049COMPLETEDTomsk National Research Medical Center of Russian Academy of SciencesTomskRussia NCT04060199128.0252435.70128COMPLETEDPusan National University Yangsan HospitalPusanSouth Korea NCT04060199126.978437.566COMPLETEDSeoul National University HospitalSeoulSouth Korea NCT040601992.1589941.38879COMPLETEDHospital Sant Joan de DeuBarcelonaSpain NCT04060199-3.7025640.4165COMPLETEDHospital Universitario La PazMadridSpain NCT04060199120.3133322.61626COMPLETEDKaohsiung Medical University Chung-Ho Memorial HospitalKaohsiung CityTaiwan NCT04060199121.5263925.05306COMPLETEDNational Taiwan University HospitalTaipeiTaiwan NCT0406019928.9496641.01384COMPLETEDYeditepe University Kosuyolu HospitalIstanbulTurkey (Türkiye) NCT0406019930.523850.45466COMPLETEDState Institution "Ukrainian Medical rehabilitation Center for Children with organic disorders of the nervous system of the Ministry of Health of Ukraine"KyivUkraine NCT04060199-1.8998352.48142COMPLETEDBirmingham Heartlands HospitalBirminghamUnited Kingdom NCT04060199-4.2576355.86515COMPLETEDRoyal Hospital for Children - GlasgowGlasgowUnited Kingdom NCT04060199-0.1257451.50853COMPLETEDUniversity College London Institute of Child HealthLondonUnited Kingdom NCT04060199-2.2374353.48095COMPLETEDRoyal Manchester Children's HospitalManchesterUnited Kingdom NCT0502923231.6947826.55695UNKNOWNSohag University HospitalSohagEgyptName: Osama R ElSherif, professor, Role: CONTACT, Phone: , Email: NCT06274983-1.465953.38297COMPLETEDSheffield Childrens NHS FTSheffieldSouth YorkshireUnited Kingdom NCT05249361126.978437.566RECRUITINGUNKNOWNSamsung Medical CenterSeoulSouth KoreaName: Yumi Choe, Role: CONTACT, Phone: +8231732671, Email: yumi.choe@sbri.co.kr NCT05249361126.978437.566RECRUITINGUNKNOWNSamsung Medical CenterSeoulSouth KoreaName: JEONG-YI KWON, MD, PHD, Role: CONTACT, Phone: +8210-4591-1039, Email: jeongyi.kwon@samsung.com Name: JEONG-YI KWON, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT05313295-2.4597436.83814COMPLETEDMaría del Mar Sánchez-JoyaAlmeríaSpain NCT07250737-92.2895934.74648AVAILABLEAVAILABLEArkansas Children's HospitalLittle RockArkansasUnited States NCT07250737-81.4166728.30468AVAILABLEAVAILABLERare Disease ResearchKissimmeeFloridaUnited States NCT07250737-84.3879833.749AVAILABLEAVAILABLERare Disease ResearchAtlantaGeorgiaUnited States NCT07250737-94.6274639.11417AVAILABLEAVAILABLEUniversity of Kansas Medical CenterKansas CityKansasUnited States NCT07250737-71.8022942.26259AVAILABLEAVAILABLEUMass Memorial Health CareWorcesterMassachusettsUnited States NCT07250737-93.0932744.94441AVAILABLEAVAILABLEGillette Children'sSaint PaulMinnesotaUnited States NCT07250737-82.9987939.96118AVAILABLEAVAILABLENationwide Children's HospitalColumbusOhioUnited States NCT07250737-81.0348134.00071AVAILABLEAVAILABLEPrisma Health-Midlands Children's HospitalColumbiaSouth CarolinaUnited States NCT07250737-73.2120744.47588AVAILABLEAVAILABLEUniversity of Vermont Medical CenterBurlingtonVermontUnited States NCT002966213.0551250.63391COMPLETEDCentre d'Investigation Clinique, Hôpital Cardiologique, CHR&U de LilleLilleFrance NCT002966213.0551250.63391COMPLETEDService d'Hépato Gastro Entérologie, Hôpital Jeanne de Flandre, CHR&U de LilleLilleFrance NCT002966213.0551250.63391COMPLETEDService de Neuropédiatrie, Hôpital Roger Salengro, CHR&U de LilleLilleFrance NCT002966212.348848.85341COMPLETEDCentre d'Investigation Clinique (CIC9202), Hôpital Robert Debré, Assistance Publique-Hôpitaux de ParisParisFrance NCT002966210.3434846.58261COMPLETEDPédiatrie Multidisciplinaire et Nutrition de l'Enfant, Centre Hospitalier Universitaire de PoitiersPoitiersFrance NCT00243789-77.0363738.89511COMPLETEDChildren's National Medical CenterWashington D.C.District of ColumbiaUnited States NCT00243789-92.469944.02163COMPLETEDMayo ClinicRochesterMinnesotaUnited States NCT00243789-90.1978938.62727COMPLETEDWashington University, St. LouisSt LouisMissouriUnited States NCT00243789-79.9958940.44062COMPLETEDChildren's Hospital of PittsburghPittsburghPennsylvaniaUnited States NCT00243789-90.0489835.14953COMPLETEDUniversity of TennesseeMemphisTennesseeUnited States NCT00243789-58.37723-34.61315COMPLETEDHospital FrancesBuenos AiresArgentina NCT00243789144.96332-37.814COMPLETEDChildren's HospitalMelbourneVictoriaAustralia NCT00243789-114.0852951.05011COMPLETEDAlberta Children's HospitalCalgaryAlbertaCanada NCT00243789-113.4687153.55014COMPLETEDUniversity of AlbertaEdmontonAlbertaCanada NCT0024378935.2163331.76904COMPLETEDHadassah Hospital, Mt. ScopusJerusalemIsrael NCT002437899.1591745.19205COMPLETEDIRCCS C Mondino FoundationPaviaItalyItaly NCT03917589-1.65147.21154COMPLETEDHôpital LAENNECSaint-HerblainNantesFrance NCT039175894.8478945.74906COMPLETEDCHU LyonLyonFrance NCT039175897.2660843.70313COMPLETEDHôpital Pasteur 2 - CHU NiceNiceFrance NCT03917589-1.6743148.11109COMPLETEDCHU RennesRennesFrance NCT039175897.7455348.58392COMPLETEDCHU StrasbourgStrasbourgFrance NCT04386304-118.2436834.05223COMPLETEDUCLA Dept of Human GeneticsLos AngelesCaliforniaUnited States NCT04386304-121.494438.58157COMPLETEDUniversity of California - Davis Department of Physical Medicine and RehabilitationSacramentoCaliforniaUnited States NCT04386304-90.1978938.62727COMPLETEDWashington University School of MedicineSt LouisMissouriUnited States NCT00110669-77.0363738.89511COMPLETEDChildren's National Medical CenterWashington D.C.District of ColumbiaUnited States NCT03796637-118.2436834.05223COMPLETEDUniversity of California, Los Angeles (UCLA)Los AngelesCaliforniaUnited States NCT02056808-1.8998352.48142COMPLETEDHeart of England NHS Foundation Trust - Heart Lands HospitalBirminghamUnited Kingdom NCT02056808-2.9779453.41058COMPLETEDAlder Hey Children's NHS Foundation TrustLiverpoolUnited Kingdom NCT02056808-0.1257451.50853COMPLETEDGreat Ormond Street for Children NHS Foundation TrustLondonUnited Kingdom NCT02056808-2.2374353.48095COMPLETEDCentral Manchester University Hospitals NHS Foundation Trust- Royal Manchester Children's HospitalManchesterUnited Kingdom NCT04607824-46.63611-23.5475COMPLETEDComitê de ética da Faculdade de Medicina da Universidade de São PauloSão PauloSão PauloBrazil NCT07160634151.20732-33.86785RECRUITINGRECRUITINGThe Children's Hospital of WestmeadSydneyNew South WalesAustraliaName: CHW CRC clinical trials team, Role: CONTACT, Phone: (02) 7825 1387, Email: SCHN-ClinicalTrials@health.nsw.gov.au Name: Michelle Lorentzos, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT07160634-123.1193449.24966RECRUITINGRECRUITINGBC Children's HospitalVancouverBritish ColumbiaCanadaName: Nela Martic, Role: CONTACT, Phone: 604-875-2345, Email: nmartic3@cw.bc.ca Name: Kathryn Selby, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT06606340-92.2895934.74648ENROLLING_BY_INVITATIONArkansas Children's Hospital Research InstituteLittle RockArkansasUnited States NCT06606340-118.2436834.05223ENROLLING_BY_INVITATIONChildren's Hospital Los AngelesLos AngelesCaliforniaUnited States NCT06606340-121.494438.58157ENROLLING_BY_INVITATIONUniversity of California Davis Medical CenterSacramentoCaliforniaUnited States NCT06606340-77.0363738.89511ENROLLING_BY_INVITATIONChildren's National HospitalWashington D.C.District of ColumbiaUnited States NCT06606340-82.3248329.65163ENROLLING_BY_INVITATIONUniversity of FloridaGainesvilleFloridaUnited States NCT06606340-91.5301741.66113ENROLLING_BY_INVITATIONUniversity Of Iowa Hospitals And ClinicsIowa CityIowaUnited States NCT06606340-76.6121939.29038ENROLLING_BY_INVITATIONKennedy Krieger InstituteBaltimoreMarylandUnited States NCT06606340-90.1978938.62727ENROLLING_BY_INVITATIONWashington UniversitySt LouisMissouriUnited States NCT06606340-74.0059740.71427ENROLLING_BY_INVITATIONColumbia University Medical Center - PINNew YorkNew YorkUnited States NCT06606340-78.8986235.99403ENROLLING_BY_INVITATIONDuke Lenox Baker Children's HospitalDurhamNorth CarolinaUnited States NCT06606340-80.2442236.09986ENROLLING_BY_INVITATIONAtrium Health Wake Forest University Health SciencesWinston-SalemNorth CarolinaUnited States NCT06606340-84.5143939.12711ENROLLING_BY_INVITATIONChildren's Hospital Medical CenterCincinnatiOhioUnited States NCT06606340-82.9987939.96118ENROLLING_BY_INVITATIONNationwide Children's HospitalColumbusOhioUnited States NCT06606340-76.6502540.28592ENROLLING_BY_INVITATIONPenn State Health Milton S. Hershey Medical CenterHersheyPennsylvaniaUnited States NCT06606340-75.1636239.95238ENROLLING_BY_INVITATIONChildren's Hospital of PhiladelphiaPhiladelphiaPennsylvaniaUnited States NCT06606340-79.9958940.44062ENROLLING_BY_INVITATIONUPMC Children's Hospital of PittsburghPittsburghPennsylvaniaUnited States NCT06606340-97.3208532.72541ENROLLING_BY_INVITATIONCook Children's HospitalFort WorthTexasUnited States NCT06606340-95.3632729.76328ENROLLING_BY_INVITATIONTexas Children's HospitalHoustonTexasUnited States NCT06606340-78.4766838.02931ENROLLING_BY_INVITATIONUVA Children's HospitalCharlottesvilleVirginiaUnited States NCT06606340-122.3320747.60621ENROLLING_BY_INVITATIONSeattle Children's HospitalSeattleWashingtonUnited States NCT06224660-94.6274639.11417RECRUITINGRECRUITINGThe University of Kansas Medical CenterKansas CityKansasUnited StatesName: Jillian Bruenn, Role: CONTACT, Phone: 913-588-9720, Email: jfrick2@kumc.edu Name: Pradeep Mammen, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT06224660-84.5143939.12711RECRUITINGRECRUITINGCincinnati Children's Hospital Medical CenterCincinnatiOhioUnited StatesName: Heart Institute Neuromuscular Intake Line, Role: CONTACT, Phone: 513-803-3000, Email: Name: Chet Villa, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT06224660-82.9987939.96118RECRUITINGRECRUITINGNationwide Children's HospitalColumbusOhioUnited StatesName: Kelsey Craig, Role: CONTACT, Phone: 614-722-2715, Email: kelsey.craig@nationwidechildrens.org Name: Deipanjan Nandi, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT04336826-84.3879833.749COMPLETEDRare Disease Research, LLCAtlantaGeorgiaUnited States NCT02434627-118.2436834.05223COMPLETEDCedars-Sinai Medical CenterLos AngelesCaliforniaUnited States NCT02592941-112.0740433.44838APPROVED_FOR_MARKETINGPhoenix Children's HospitalPhoenixArizonaUnited States NCT02592941-92.2895934.74648APPROVED_FOR_MARKETINGArkansas Children's HospitalLittle RockArkansasUnited States NCT02592941-118.2436834.05223APPROVED_FOR_MARKETINGUCLA HealthLos AngelesCaliforniaUnited States NCT02592941-117.8531133.78779APPROVED_FOR_MARKETINGChildrens Hospital of Orange CountyOrangeCaliforniaUnited States NCT02592941-121.494438.58157APPROVED_FOR_MARKETINGUC Davis Medical CenterSacramentoCaliforniaUnited States NCT02592941-104.8319239.72943APPROVED_FOR_MARKETINGChildren's Hospital ColoradoAuroraColoradoUnited States NCT02592941-77.0363738.89511APPROVED_FOR_MARKETINGChildren's National Medical CenterWashington D.C.District of ColumbiaUnited States NCT02592941-82.3248329.65163APPROVED_FOR_MARKETINGUniversity of Florida Clinical Research CenterGainesvilleFloridaUnited States NCT02592941-80.1936625.77427APPROVED_FOR_MARKETINGNicklaus Children's HospitalMiamiFloridaUnited States NCT02592941-82.4584327.94752APPROVED_FOR_MARKETINGShriner's Hospital for Children - TampaTampaFloridaUnited States NCT02592941-84.3879833.749APPROVED_FOR_MARKETINGChildren's Healthcare of Atlanta- Scottish RiteAtlantaGeorgiaUnited States NCT02592941-87.6500541.85003APPROVED_FOR_MARKETINGAnn & Robert H. Lurie Children's Hospital of ChicagoChicagoIllinoisUnited States NCT02592941-87.6500541.85003APPROVED_FOR_MARKETINGRush University Medical CenterChicagoIllinoisUnited States NCT02592941-87.6500541.85003APPROVED_FOR_MARKETINGShriner's Hospital for Children - ChicagoChicagoIllinoisUnited States NCT02592941-88.2072740.11059APPROVED_FOR_MARKETINGCarle Foundation HospitalUrbanaIllinoisUnited States NCT02592941-86.1580439.76838APPROVED_FOR_MARKETINGRiley Hospital for Children at IU HealthIndianapolisIndianaUnited States NCT02592941-91.5301741.66113APPROVED_FOR_MARKETINGUniversity of Iowa Hospitals and ClinicsIowa CityIowaUnited States NCT02592941-94.6274639.11417APPROVED_FOR_MARKETINGUniversity of Kansas Medical CenterKansas CityKansasUnited States NCT02592941-76.6121939.29038APPROVED_FOR_MARKETINGKennedy Krieger InstituteBaltimoreMarylandUnited States NCT02592941-71.0597742.35843APPROVED_FOR_MARKETINGBoston Children's HospitalBostonMassachusettsUnited States NCT02592941-83.7408842.27756APPROVED_FOR_MARKETINGUniversity of Michigan Health SystemAnn ArborMichiganUnited States NCT02592941-83.0457542.33143APPROVED_FOR_MARKETINGWayne State University- Children's Hospital of MichiganDetroitMichiganUnited States NCT02592941-85.6680942.96336APPROVED_FOR_MARKETINGHelen DeVos Children's Hospital Neurology ClinicGrand RapidsMichiganUnited States NCT02592941-93.0932744.94441APPROVED_FOR_MARKETINGGillette Children's Specialty HealthcareSaint PaulMinnesotaUnited States NCT02592941-115.1372236.17497APPROVED_FOR_MARKETINGLas Vegas ClinicLas VegasNevadaUnited States NCT02592941-80.8431335.22709APPROVED_FOR_MARKETINGNeurosciences Institute, Neurology-CharlotteCharlotteNorth CarolinaUnited States NCT02592941-80.2442236.09986APPROVED_FOR_MARKETINGWake Forest School of MedicineWinston-SalemNorth CarolinaUnited States NCT02592941-122.6762145.52345APPROVED_FOR_MARKETINGOregon Health & Science UniversityPortlandOregonUnited States NCT02592941-122.6762145.52345APPROVED_FOR_MARKETINGShriner's Hospital for ChildrenPortlandOregonUnited States NCT02592941-76.6502540.28592APPROVED_FOR_MARKETINGPenn State Milton S. Hershey Medical CenterHersheyPennsylvaniaUnited States NCT02592941-79.9958940.44062APPROVED_FOR_MARKETINGChildren's Hospital of Pittsburgh of UPMCPittsburghPennsylvaniaUnited States NCT02592941-82.3940134.85262APPROVED_FOR_MARKETINGGreenville Health SystemGreenvilleSouth CarolinaUnited States NCT02592941-89.776235.15565APPROVED_FOR_MARKETINGWesley Neurology ClinicCordovaTennesseeUnited States NCT02592941-86.7844436.16589APPROVED_FOR_MARKETINGVanderbilt University Medical CenterNashvilleTennesseeUnited States NCT02592941-96.8066732.78306APPROVED_FOR_MARKETINGChildren's Medical CenterDallasTexasUnited States NCT02592941-97.3208532.72541APPROVED_FOR_MARKETINGCook Children's Medical CenterFort WorthTexasUnited States NCT02592941-95.3632729.76328APPROVED_FOR_MARKETINGTexas Children's HospitalHoustonTexasUnited States NCT02592941-98.4936329.42412APPROVED_FOR_MARKETINGUniversity of Texas Health Science Center - San AntonioSan AntonioTexasUnited States NCT02592941-78.4766838.02931APPROVED_FOR_MARKETINGUniversity of Virginia Children's HospitalCharlottesvilleVirginiaUnited States NCT02592941-76.2852236.84681APPROVED_FOR_MARKETINGChildren's Specialty GroupNorfolkVirginiaUnited States NCT02592941-77.4602637.55376APPROVED_FOR_MARKETINGVirginia Commonwealth UniversityRichmondVirginiaUnited States NCT02592941-122.3320747.60621APPROVED_FOR_MARKETINGSeattle Children's HospitalSeattleWashingtonUnited States NCT06594094121.4580631.22222COMPLETEDShanghai Children s Medical Center Affiliated to Shanghai Jiao Tong University School of MedicalShanghaiShanghai MunicipalityChina NCT02740972-121.494438.58157COMPLETEDUC DavisSacramentoCaliforniaUnited States NCT02740972-82.3248329.65163COMPLETEDUniversity of Florida HealthGainesvilleFloridaUnited States NCT02740972-87.6500541.85003COMPLETEDLurie Children's HospitalChicagoIllinoisUnited States NCT02740972-90.1978938.62727COMPLETEDWashington UniversitySt LouisMissouriUnited States NCT02740972-78.8986235.99403COMPLETEDDuke University Medical CenterDurhamNorth CarolinaUnited States NCT02740972-77.4602637.55376COMPLETEDChildren's Hospital of Richmond at VCURichmondVirginiaUnited States NCT02740972-114.0852951.05011COMPLETEDAlberta Children's HospitalCalgaryAlbertaCanada NCT0546444632.8542739.91987COMPLETEDLokman Hekim UniversityAnkaraTurkey (Türkiye) NCT0466984730.6955636.90812COMPLETEDGokce Yagmur Gunes GencerAntalyaTurkey (Türkiye) NCT06304064-82.3248329.65163COMPLETEDUniversity of FloridaGainesvilleFloridaUnited States NCT06304064-84.5143939.12711COMPLETEDCincinnati Children's Medical CenterCincinnatiOhioUnited States NCT04240314-82.9987939.96118COMPLETEDNationwide Children's HospitalColumbusOhioUnited States NCT00104078-77.0363738.89511COMPLETEDWashington D.C.District of ColumbiaUnited States NCT00104078-94.6274639.11417COMPLETEDKansas CityKansasUnited States NCT00104078-76.6121939.29038COMPLETEDBaltimoreMarylandUnited States NCT00104078-71.0597742.35843COMPLETEDBostonMassachusettsUnited States NCT00104078-90.1978938.62727COMPLETEDSt LouisMissouriUnited States NCT00104078-77.6155643.15478COMPLETEDRochesterNew YorkUnited States NCT00104078-82.9987939.96118COMPLETEDColumbusOhioUnited States NCT00104078-96.8066732.78306COMPLETEDDallasTexasUnited States NCT00104078-111.8910540.76078COMPLETEDSalt Lake CityUtahUnited States NCT0154060418.0687159.32938COMPLETEDStockholmSweden NCT0668258532.8542739.91987COMPLETEDDMD Aileleri DerneğiAnkaraÇankayaTurkey (Türkiye) NCT0081984512.5113341.89193RECRUITINGUNKNOWNUnione Italiana lotta Distrofia MuscolareRomeItalyName: Vincenzo Giglio, MD, PhD, Role: CONTACT, Phone: 39-6-6604881, Email: giglio.echo@libero.it Name: Fortunato Mangiola, MD, Role: CONTACT, Phone: 39-6-6604881, Email: fortunato.mangiola@uildmlazio.org Name: Vincenzo Giglio, MD, PhD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT0657491931.6947826.55695RECRUITINGRECRUITINGSohag university HospitalSohagEgyptName: Marwa Nasser, resident, Role: CONTACT, Phone: 01280593352, Email: marawa.nasser@med.sohag.edu.eg Name: Abdelrahim Abdrabou Sadek, professor, Role: CONTACT, Phone: 01065067057, Email: NCT0657491931.6947826.55695RECRUITINGRECRUITINGSohag UniversitySohagEgyptName: Magdy Amin, Professor, Role: CONTACT, Phone: 0934602963, Email: portal@med.sohag.edu.eg NCT0657491931.6947826.55695RECRUITINGRECRUITINGSohag University HospitalSohagEgyptName: Magdy Amin, professor, Role: CONTACT, Phone: 0934602963, Email: portal@med.sohag.edu.eg NCT0743737830.7581328.09193COMPLETEDDeraya university, faculty of physical therapyMinyaMenia GovernorateEgypt NCT01027884-121.494438.58157COMPLETEDUniversity of California Davis Medical CenterSacramentoCaliforniaUnited States NCT01027884-104.8319239.72943COMPLETEDChildren's Hospital ColoradoAuroraColoradoUnited States NCT01027884-82.3248329.65163COMPLETEDUniversity of FloridaGainesvilleFloridaUnited States NCT01027884-80.8431335.22709COMPLETEDCarolinas Medical Center, Neurosciences and Spine InstituteCharlotteNorth CarolinaUnited States NCT01027884-75.1636239.95238COMPLETEDThe Children's Hospital of PhiladelphiaPhiladelphiaPennsylvaniaUnited States NCT01027884-86.7844436.16589COMPLETEDMonroe Carell, Jr. Children's Hospital at VanderbiltNashvilleTennesseeUnited States NCT01027884-96.8066732.78306COMPLETEDUniversity of Texas Southwestern Medical CenterDallasTexasUnited States NCT01027884-95.3632729.76328COMPLETEDMethodist Neurological InstituteHoustonTexasUnited States NCT01027884-122.3320747.60621COMPLETEDSeattle Children's HospitalSeattleWashingtonUnited States NCT0102788416.3720848.20849COMPLETEDDr. Günther Bernert, Prim. Univ. Doz.ViennaAustria NCT010278844.7009350.87959COMPLETEDUniversity Hospitals Leuven- Children HospitalLeuvenBelgium NCT010278843.0551250.63391COMPLETEDHôpital Roger Salengro, CHRU LilleLilleFrance NCT010278842.348848.85341COMPLETEDProf. Thomas Voit , MD, PhDParisFrance NCT010278847.0122851.45657COMPLETEDUniversitätsklinikum Essen, Zentrum für KinderheikundeEssenGermany NCT010278847.8522247.9959COMPLETEDUniversitätsklinik Freiburg Zentrum für Kinderheilkunde und JugendmedizinFreiburg im BreisgauGermany NCT010278849.1895145.46427COMPLETEDAzienda Ospedaliera Niguarda Ca' Granda Centro Clinico NemoMilanItaly NCT0102788414.2681140.85216COMPLETEDAzienda Ospedaliera Universitaria della Seconda Università degli Studi di NapoliNaplesItaly NCT010278844.4930652.15833COMPLETEDAss. Prof. Jan Verschuuren , MD, PhDLeidenP.O. Box 9600Netherlands NCT01027884-3.7025640.4165COMPLETEDHospital Universitario 12 de OctubreMadridSpain NCT01027884-0.3796639.47391COMPLETEDHospital Universitario y Politécnico La FeValenciaSpain NCT0102788418.0687159.32938COMPLETEDProf. Thomas Sejersen, MD, PhDStockholmSweden NCT010278846.6328246.516COMPLETEDCHUV Lausanne NeuropediatrieLausanneSwitzerland NCT07282652116.3972339.9075ACTIVE_NOT_RECRUITINGPeking Union Medical College HospitalBeijingChina NCT07015632126.978437.566RECRUITINGRECRUITINGSeoul National University HospitalSeoulJongnoSouth KoreaName: junghyun kim, Ph. D., Role: CONTACT, Phone: 82+1021740890, Email: kiking0@naver.com NCT0640294232.8542739.91987RECRUITINGRECRUITINGLokman Hekim UniversityAnkaraTurkey (Türkiye)Name: Başak Çağla Arslan, Master's Degree, Role: CONTACT, Phone: , Email: NCT0556496230.5522237.76444COMPLETEDGüllü Aydın YağcıoğluIspartaTurkey (Türkiye) NCT04708314-84.3879833.749TERMINATEDRare Disease Research, LLCAtlantaGeorgiaUnited States NCT04708314-79.9958940.44062TERMINATEDChildren's Hospital of Pittsburgh of UPMCPittsburghPennsylvaniaUnited States NCT0352127132.8542739.91987COMPLETEDHacettepe UniversityAnkaraSamanpazarı/AnkaraTurkey (Türkiye) NCT01633866-84.5143939.12711ACTIVE_NOT_RECRUITINGCincinnati Children'sCincinnatiOhioUnited States NCT05693142-92.2895934.74648RECRUITINGRECRUITINGArkansas Children's HospitalLittle RockArkansasUnited StatesName: Amber Evans, Role: CONTACT, Phone: 501-364-2259, Email: evansa17@archildrens.org Name: Aravindhan Veerapandiyan, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT05693142-122.1430237.44188RECRUITINGRECRUITINGStanford School of Medicine /Division of Neuromuscular MedicinePalo AltoCaliforniaUnited StatesName: , Role: CONTACT, Phone: 650-725-4341, Email: neuromuscularresearch@stanford.edu Name: Carolina Tesi-Rocha, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT05693142-104.8319239.72943RECRUITINGRECRUITINGChildren's Hospital ColoradoAuroraColoradoUnited StatesName: Michele Yang, Role: CONTACT, Phone: 720-777-6895, Email: Michele.Yang@childrenscolorado.org Name: Hannah Kleiner, Role: CONTACT, Phone: 720-777-1377, Email: Hannah.Kleiner@childrenscolorado.org Name: Michele Yang, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT05693142-82.3248329.65163RECRUITINGRECRUITINGUniversity of FloridaGainesvilleFloridaUnited StatesName: Melissa Lewis, Role: CONTACT, Phone: 352-273-8218, Email: melissa.lewis@peds.ufl.edu Name: Barry Byrne, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT05693142-84.3879833.749RECRUITINGRECRUITINGRare Disease ResearchAtlantaGeorgiaUnited StatesName: Lily Goggans, Role: CONTACT, Phone: 470-600-9134, Email: lily.goggans@rarediseaseresearch.com Name: Maureen Ikpeoha, Role: CONTACT, Phone: 470-666-1884, Email: maureen.ikpeoha@rarediseaseresearch.com Name: Han Phan, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT05693142-87.6500541.85003RECRUITINGRECRUITINGAnn & Robert H. Lurie Children's Hospital of ChicagoChicagoIllinoisUnited StatesName: Nicole Geanous, Role: CONTACT, Phone: 312-227-3019, Email: ngeanous@luriechildrens.org Name: Nancy L Kuntz, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT05693142-91.5301741.66113RECRUITINGRECRUITINGUniversity of IowaIowa CityIowaUnited StatesName: Laura Knosp, Role: CONTACT, Phone: 319-384-6277, Email: laura-knosp@uiowa.edu Name: Dimah Saade, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT05693142-71.8022942.26259RECRUITINGRECRUITINGUniversity of Massachusetts Chan Medical SchoolWorcesterMassachusettsUnited StatesName: Tyler Mola, Role: CONTACT, Phone: 978-503-9219, Email: tyler.mola@umassmed.edu Name: Eleonora D'Ambrosio, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT05693142-84.5143939.12711RECRUITINGRECRUITINGCincinnati Children'sCincinnatiOhioUnited StatesName: Angela Edmondson, Role: CONTACT, Phone: 513-636-9285, Email: Angela.Edmondson@cchmc.org Name: Cuixia Tian, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT05693142-122.6762145.52345RECRUITINGRECRUITINGOregon Health & Science UniversityPortlandOregonUnited StatesName: Beata Dyar, Role: CONTACT, Phone: 503-494-8216, Email: dyar@ohsu.edu Name: Erika Finanger, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT05693142-96.8066732.78306RECRUITINGRECRUITINGThe University of Texas Southwestern Medical CenterDallasTexasUnited StatesName: Elaine Most, Role: CONTACT, Phone: 214-456-2463, Email: elaine.most@utsouthwestern.edu Name: Susan Iannaccone, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT05693142-76.2852236.84681RECRUITINGRECRUITINGChildren's Hospital of the King's DaughtersNorfolkVirginiaUnited StatesName: Erika Paradiso, Role: CONTACT, Phone: 757-668-6981, Email: proud.research@chkd.org Name: Crystal Proud, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT05693142-77.4602637.55376RECRUITINGRECRUITINGChildren's Hospital of Richmond at Virginia Commonwealth UniversityRichmondVirginiaUnited StatesName: Falgun Patel, Role: CONTACT, Phone: (804) 827-9731, Email: Falgun.Patel@vcuhealth.org Name: Amy Harper, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT05693142-114.0852951.05011NOT_YET_RECRUITINGRECRUITINGAlberta Children's HospitalCalgaryAlbertaCanadaName: Israt Yasmeen, MBT, Role: CONTACT, Phone: 587-943-0851, Email: Israt.Yasmeen@ahs.ca Name: Jean Mah, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT05693142-123.1193449.24966RECRUITINGRECRUITINGBC Children's HospitalVancouverBritish ColumbiaCanadaName: Nela Martic, Role: CONTACT, Phone: 604-875-2345, Email: NMartic3@cw.bc.ca Name: Kathryn Selby, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT05693142-81.2330442.98339RECRUITINGRECRUITINGChildren's Hospital London Health Science CentreLondonOntarioCanadaName: Rhiannon Hicks, Role: CONTACT, Phone: 519-685-8500, Email: rhiannon.hicks@lhsc.on.ca Name: Craig Campbell, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT05693142-75.6981245.41117RECRUITINGRECRUITINGChildren's Hospital of Eastern OntarioOttawaOntarioCanadaName: Laura Thompson, Role: CONTACT, Phone: 613-737-7600, Email: lathompson@cheo.on.ca Name: Hugh McMillan, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT043843542.1823248.84226COMPLETEDCICIT805GarchesFrance NCT03375255-121.494438.58157COMPLETEDNeuromuscular Research CenterSacramentoCaliforniaUnited States NCT03375255-87.1638630.35714COMPLETEDNW FL Clinical Research Group, LLCGulf BreezeFloridaUnited States NCT03375255-84.3879833.749COMPLETEDRare Disease Research, LLCAtlantaGeorgiaUnited States NCT03375255-87.6500541.85003COMPLETEDAnn & Robert H. Lurie Children's Hospital of ChicagoChicagoIllinoisUnited States NCT03375255-94.6274639.11417COMPLETEDUniversity of Kansas Medical CenterKansas CityKansasUnited States NCT03375255-79.9958940.44062COMPLETEDChildren's Hospital of Pittsburgh of UPMCPittsburghPennsylvaniaUnited States NCT03375255-96.8066732.78306COMPLETEDChildren's Medical Center DallasDallasTexasUnited States NCT03375255-81.2330442.98339COMPLETEDLondon Health Sciences CentreLondonOntarioCanada NCT032189953.7166751.05COMPLETEDUniversitair ziekenhuis GentGhentBelgium NCT032189952.348848.85341COMPLETEDArmand-Trousseau HospitalParisFrance NCT0321899511.1064244.99364COMPLETEDSite Fondazione Policlinico Universitario Agostino GemelliRomaItaly NCT03218995-0.1257451.50853COMPLETEDUCL Great Ormond Street Institute of Child HealthLondonUnited Kingdom NCT03648827-112.0740433.44838COMPLETEDPhoenix Childrens HospitalPhoenixArizonaUnited States NCT03648827-118.2436834.05223COMPLETEDUniversity of California, Los Angeles (UCLA)Los AngelesCaliforniaUnited States NCT03648827-121.494438.58157COMPLETEDUniversity of California (UC) Davis Medical CenterSacramentoCaliforniaUnited States NCT03648827-94.6274639.11417COMPLETEDUniversity of Kansas Medical CenterKansas CityKansasUnited States NCT03648827-93.2638444.97997COMPLETEDUniversity of MinnesotaMinneapolisMinnesotaUnited States NCT03648827-74.0059740.71427COMPLETEDColumbia University College of Physicians & SurgeonsNew YorkNew YorkUnited States NCT03648827-95.3632729.76328COMPLETEDTexas Children's HospitalHoustonTexasUnited States NCT03648827-98.4936329.42412COMPLETEDUniversity of Texas Heath Science Center at San AntonioSan AntonioTexasUnited States NCT03648827-76.2852236.84681COMPLETEDChildren's Hospital of the King's DaughtersNorfolkVirginiaUnited States NCT038828274.3487850.85045RECRUITINGRECRUITINGCentre Hospitalier Universitaire BrugmannBrusselsBelgium NCT038828274.7009350.87959RECRUITINGRECRUITINGUZ LeuvenLeuvenBelgium NCT038828275.5674950.63373NOT_YET_RECRUITINGRECRUITINGCHR Hôpital de la CitadelleLiègeBelgium NCT03882827-0.5804644.84124RECRUITINGRECRUITINGUniversity Hospital of BordeauxBordeauxFrance NCT03882827-4.4862848.39029RECRUITINGRECRUITINGBrest University Hospital CentreBrestFrance NCT038828274.9130345.73865RECRUITINGRECRUITINGHopital Femme Mere EnfantBronFrance NCT038828273.0551250.63391RECRUITINGRECRUITINGCHU LilleLilleFrance NCT038828275.3810743.29695RECRUITINGRECRUITINGHopital la Timone EnfantsMarseilleFrance NCT038828273.8763543.61093NOT_YET_RECRUITINGRECRUITINGCentre Hospitalier Universitaire - Hôpital Gui de ChauliacMontpellierFrance NCT038828272.348848.85341RECRUITINGRECRUITINGHôpital Armand TrousseauParisFrance NCT038828277.7455348.58392RECRUITINGRECRUITINGHôpital HautepierreStrasbourgFrance NCT038828272.0880941.37732RECRUITINGRECRUITINGHospital Sant Joan de Deu Esplugues de LlobregatEsplugues de LlobregatSpain NCT03882827-0.3796639.47391ACTIVE_NOT_RECRUITINGRECRUITINGHospital La Fe de ValenciaValenciaSpain NCT03882827-0.1257451.50853RECRUITINGRECRUITINGGreat Ormond Street Hospital & University College London HospitalLondonUnited Kingdom NCT03882827-5.8897954.21804RECRUITINGRECRUITINGInstitute of Genetic MedicineNewcastleUnited Kingdom NCT0378691331.184230.45977COMPLETEDBenha University HospitalBanhāQalyubia GovernorateEgypt NCT0554999930.5522237.76444COMPLETEDGüllü Aydın YağcıoğluIspartaTurkey (Türkiye) NCT0596779331.2496730.06263RECRUITINGUNKNOWNNoha ElsertyCairoEgyptName: Noha Elserty, Role: CONTACT, Phone: , Email: NCT03769116-118.2436834.05223COMPLETEDDavid Geffen School of Medicine at UCLALos AngelesCaliforniaUnited States NCT03769116-82.9987939.96118COMPLETEDNationwide Children's HospitalColumbusOhioUnited States NCT0183404073.8553518.51957RECRUITINGUNKNOWNChaitanya HospitalPuneMaharashtraIndiaName: Sachin S Jamadar, D ORTHO, Role: CONTACT, Phone: +918888788880, Email: sac2751982@gmail.com NCT03508947-84.3879833.749COMPLETEDRare Disease Research, LLC.AtlantaGeorgiaUnited States NCT035089473.7166751.05COMPLETEDUZ GentGhentBelgium NCT035089474.7009350.87959COMPLETEDUniversitaire Ziekenhuizen LeuvenLeuvenBelgium NCT035089475.5674950.63373COMPLETEDCHR de la CitadelleLiègeBelgium NCT03508947-81.2330442.98339COMPLETEDLondon Health Sciences Centre - HospitalLondonOntarioCanada NCT035089472.348848.85341COMPLETEDHôpital Armand TrousseauParisFrance NCT0350894715.5525638.19394COMPLETEDU.O.C di Neurologia e Malattie Neuromuscolari Centro Clinico Nemo SudMessinaItaly NCT0350894712.5983642.78235COMPLETEDU.O. Immunologia PediatricaMilanItaly NCT035089475.8527851.8425COMPLETEDRadbound University Nijmegen Medical CareNijmegenNetherlands NCT03508947-2.5966551.45523COMPLETEDUniversity Hospitals Bristol NHS Foundation TrustBristolUnited Kingdom NCT03508947-2.9779453.41058COMPLETEDAlder Hey Children's HospitalLiverpoolUnited Kingdom NCT03508947-0.1257451.50853COMPLETEDEvelina London Children's HospitalLondonUnited Kingdom NCT03508947-0.1257451.50853COMPLETEDUCL Institute of Child Health & Great Ormond Street Hospital for ChildrenLondonUnited Kingdom NCT0171215216.3720848.20849COMPLETED2nd Medical Dept., RudolfstiftungViennaAustria NCT027804922.348848.85341COMPLETEDInstitut de Myologie, Groupe Hospitalier Pitié SalpêtrièreParisFrance NCT027804924.4930652.15833COMPLETEDLeiden University Medical CentreLeidenNetherlands NCT027804925.8527851.8425COMPLETEDRadboud University Medical CentreNijmegenNetherlands NCT02780492-0.1257451.50853COMPLETEDDubowitz Neuromuscular Centre, UCL-Institute of Child HealthLondonUnited Kingdom NCT02780492-5.8897954.21804COMPLETEDJohn Walton Muscular Dystrophy Research Centre, Newcastle UniversityNewcastleUnited Kingdom NCT0733881231.2496730.06263COMPLETEDCairo universityCairoEgypt NCT0733881231.2086130.00944COMPLETEDCairo universityGizaEgypt NCT0560198628.9496641.01384RECRUITINGUNKNOWNBiruni UniversityIstanbulTurkey (Türkiye)Name: Gülsena Utku Umut, Role: CONTACT, Phone: +905370664646, Email: gulsenautkuumut@gmail.com NCT0412016835.3253136.98615COMPLETEDAdana City HospitalAdanaTurkey (Türkiye) NCT0412016835.3253136.98615COMPLETEDBaskent University Adana HospitalAdanaTurkey (Türkiye) NCT0412016835.3253136.98615COMPLETEDÇukurova University Faculty of Medicine, Pediatric GastroenterologyAdanaTurkey (Türkiye) NCT0412016830.5433338.75667COMPLETEDAfyonkarahisar Health Sciences UniversityAfyonkarahisarTurkey (Türkiye) NCT0412016832.8542739.91987COMPLETEDAnkara HospitalAnkaraTurkey (Türkiye) NCT0412016832.8542739.91987COMPLETEDAnkara University Faculty of Medicine, Pediatric GastroenterologyAnkaraTurkey (Türkiye) NCT0412016832.8542739.91987COMPLETEDAnkara Yıldırım Beyazıt University, Yenimahalle Training and Research HospitalAnkaraTurkey (Türkiye) NCT0412016832.8542739.91987COMPLETEDBaskent University Faculty of Medicine, Department of Pediatric GastroenterologyAnkaraTurkey (Türkiye) NCT0412016832.8542739.91987COMPLETEDGazi University Faculty of Medicine, Pediatric GastroenterologyAnkaraTurkey (Türkiye) NCT0412016832.8542739.91987COMPLETEDGülhane Training and Research HospitalAnkaraTurkey (Türkiye) NCT0412016832.8542739.91987COMPLETEDHacettepe University Faculty of Medicine, Pediatric GastroenterologyAnkaraTurkey (Türkiye) NCT0412016832.8542739.91987COMPLETEDKeçiören Training and Research HospitalAnkaraTurkey (Türkiye) NCT0412016830.6955636.90812COMPLETEDSBU Antalya Training and Research HospitalAntalyaTurkey (Türkiye) NCT0412016829.0601340.19559COMPLETEDBursa Yüksek İhtisas Training and Research HospitalBursaTurkey (Türkiye) NCT0412016829.0601340.19559COMPLETEDFatih Ünal, Bursa (Pediatric Gastroenterology Specialist)BursaTurkey (Türkiye) NCT0412016829.0601340.19559COMPLETEDUludag University, Faculty of Medicine, Pediatric GastroenterologyBursaTurkey (Türkiye) NCT0412016834.9533340.54889COMPLETEDHitit University Education and Research HospitalÇorumTurkey (Türkiye) NCT0412016829.087537.77417COMPLETEDPamukkale University School of MedicineDenizliTurkey (Türkiye) NCT0412016839.2232138.67431COMPLETEDFırat University Faculty of Medicine, Pediatric GastroenterologyElâzığTurkey (Türkiye) NCT0412016841.2769439.90861COMPLETEDAtatürk University School of MedicineErzurumTurkey (Türkiye) NCT0412016830.5205639.77667COMPLETEDEskisehir Osmangazi University School of Medicine, Pediatric GastroenterologyEskişehirTurkey (Türkiye) NCT0412016837.382537.05944COMPLETEDGaziantep University School of MedicineGaziantepTurkey (Türkiye) NCT0412016830.5522237.76444COMPLETEDIsparta City HospitalIspartaTurkey (Türkiye) NCT0412016830.5522237.76444COMPLETEDSüleyman Demirel University Faculty of MedicineIspartaTurkey (Türkiye) NCT0412016828.9496641.01384COMPLETEDBiruni University School of MedicineIstanbulTurkey (Türkiye) NCT0412016828.9496641.01384COMPLETEDHealth Sciences University Istanbul Umraniye Health Application and Research CenterIstanbulTurkey (Türkiye) NCT0412016828.9496641.01384COMPLETEDHealth Sciences University Şişli Etfal Training and Research HospitalIstanbulTurkey (Türkiye) NCT0412016828.9496641.01384COMPLETEDIstanbul Altunizade Acıbadem HospitalIstanbulTurkey (Türkiye) NCT0412016828.9496641.01384COMPLETEDIstanbul Haseki Training and Research HospitalIstanbulTurkey (Türkiye) NCT0412016828.9496641.01384COMPLETEDIstanbul Medeniyet University School of MedicineIstanbulTurkey (Türkiye) NCT0412016828.9496641.01384COMPLETEDIstanbul Okmeydani Training and Research HospitalIstanbulTurkey (Türkiye) NCT0412016828.9496641.01384COMPLETEDIstinye University Faculty of MedicineIstanbulTurkey (Türkiye) NCT0412016828.9496641.01384COMPLETEDİstanbul Bakırköy Sadi Konuk Training and Research HospitalIstanbulTurkey (Türkiye) NCT0412016828.9496641.01384COMPLETEDKanuni Sultan Süleyman Training and Research HospitalIstanbulTurkey (Türkiye) NCT0412016828.9496641.01384COMPLETEDKoç University HospitalIstanbulTurkey (Türkiye) NCT0412016828.9496641.01384COMPLETEDMarmara University School of Medicine, Pediatric GastroenterologyIstanbulTurkey (Türkiye) NCT0412016828.9496641.01384COMPLETEDMedipol University, IstanbulIstanbulTurkey (Türkiye) NCT0412016828.9496641.01384COMPLETEDYeditepe University Faculty of Medicine, Department of Pediatric GastroenterologyIstanbulTurkey (Türkiye) NCT0412016827.1383838.41273COMPLETEDDr. Behçet Uz Children's HospitalIzmirTurkey (Türkiye) NCT0412016827.1383838.41273COMPLETEDHealth Sciences University, İzmir Tepecik Training and Research HospitalIzmirTurkey (Türkiye) NCT0412016832.6276841.20488COMPLETEDKarabuk University Faculty of MedicineKarabükTurkey (Türkiye) NCT0412016835.4852838.73222COMPLETEDErciyes University School of Medicine, Pediatric GasrtroenterologyKayseriTurkey (Türkiye) NCT0412016827.5114539.62497COMPLETEDKocaeli University School of MedicineKocaeliTurkey (Türkiye) NCT0412016832.4846437.87135COMPLETEDSelcuk University Faculty of Medicine, Pediatric GastroenterologyKonyaTurkey (Türkiye) NCT0412016838.3166738.35018COMPLETEDInonu University School of Medicine, Pediatric GastroenterologyMalatyaTurkey (Türkiye) NCT0412016838.3166738.35018COMPLETEDMalatya Training and Research HospitalMalatyaTurkey (Türkiye) NCT0412016834.6388636.81196COMPLETEDMersin City Hospital, Pediatric GastroenterologyMersinTurkey (Türkiye) NCT0412016836.336141.27976COMPLETEDSamsun Ondokuz Mayıs University Faculty of MedicineSamsunTurkey (Türkiye) NCT0412016843.3832338.49457COMPLETEDSBU Van Regional Training and Research HospitalVanTurkey (Türkiye) NCT0412016843.3832338.49457COMPLETEDVan 100. Yıl University School of MedicineVanTurkey (Türkiye) NCT0412016831.7930541.45139COMPLETEDBulent Ecevit University, Faculty of MedicineZonguldakTurkey (Türkiye) NCT04428476-121.494438.58157ACTIVE_NOT_RECRUITINGUniversity of California, DavisSacramentoCaliforniaUnited States NCT04428476-104.8319239.72943ACTIVE_NOT_RECRUITINGChildren's Hospital ColoradoAuroraColoradoUnited States NCT04428476-90.1978938.62727ACTIVE_NOT_RECRUITINGWashington UniversitySt LouisMissouriUnited States NCT04428476-84.5143939.12711ACTIVE_NOT_RECRUITINGCincinnati Children's Hospital Medical CenterCincinnatiOhioUnited States NCT04428476-87.9064743.0389ACTIVE_NOT_RECRUITINGChildren's Hospital WisconsinMilwaukeeWisconsinUnited States NCT0712995410.993845.43854RECRUITINGRECRUITINGAzienda Ospedaliera Universitaria Integrata Verona - UOC di NeuroriabilitazioneVeronaveronaItalyName: Valentina Varalta, Doctor, Role: CONTACT, Phone: 045 8124956, Email: valentina.varalta@univr.it NCT0413946017.2517549.59552UNKNOWNUniversity hospital OlomoucOlomoucČeská RepublikaCzechiaName: Irena Opavska, Mgr., Role: CONTACT, Phone: +420 588 44 3201, Email: irena.opavska@fnol.cz Name: Beata Brosova, Mgr., Role: CONTACT, Phone: +420 588 44 3201, Email: Beata.Brosova@fnol.cz Name: Tomas Skala, MD, PhD, Role: SUB_INVESTIGATOR, Phone: , Email: Name: Milos Taborsky, MD, PhD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT019570594.7009350.87959TERMINATEDUZ Leuven, Campus GasthuisbergLeuvenBelgium NCT019570592.348848.85341TERMINATEDInstitut de MyologieParisFrance NCT0195705912.5113341.89193TERMINATEDPoliclinico Universitario Agostino GemelliRomeItaly NCT019570594.4930652.15833TERMINATEDLeids Universitair Medisch CentrumLeidenNetherlands NCT01957059-0.1257451.50853TERMINATEDGreat Ormond Street Hospital for ChildrenLondonUnited Kingdom NCT01957059-5.8897954.21804TERMINATEDInstitute of Genetic Medicine International Centre for LifeNewcastleUnited Kingdom NCT0368966027.1383838.41273COMPLETEDDokuz Eylul UniversityIzmirBalcovaTurkey (Türkiye) NCT00759876-84.5143939.12711TERMINATEDCincinnati Children's Hospital Medical CenterCincinnatiOhioUnited States NCT00759876-75.1636239.95238TERMINATEDChildren's Hospital of PhiladelphiaPhiladelphiaPennsylvaniaUnited States NCT00759876-111.8910540.76078TERMINATEDUniversity of UtahSalt Lake CityUtahUnited States NCT02485938-118.2436834.05223COMPLETEDCedars-Sinai Medical CenterLos AngelesCaliforniaUnited States NCT02485938-82.3248329.65163COMPLETEDUniversity of FloridaGainesvilleFloridaUnited States NCT02485938-84.5143939.12711COMPLETEDCincinnati Children's Hospital Medical CenterCincinnatiOhioUnited States NCT02653833-118.2436834.05223TERMINATEDCedars-Sinai Medical CenterLos AngelesCaliforniaUnited States NCT06579352-97.1330733.21484AVAILABLEAVAILABLENeurology Rare Disease CenterDentonTexasUnited StatesName: Diana Castro, MD, Role: CONTACT, Phone: 972-982-7411, Email: drcastro@neuromdcenter.com Name: Diana Castro, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT027105912.348848.85341COMPLETEDI-Motion - Hôpital Armand TrousseauParisÎle-de-France RegionFrance NCT0271059112.5983642.78235COMPLETEDSan Raffaele HospitalMilanItaly NCT027105912.1589941.38879COMPLETEDSanta Creu i Sant Pau HospitalBarcelonaSpain NCT02710591-0.1257451.50853COMPLETEDUCL Institute of Child Health and Great Ormond Street HospitalLondonUnited Kingdom NCT06328725126.978437.566UNKNOWNSamsung Medical CenterSeoulSouth KoreaName: Jeehun Lee, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT06328725126.978437.566UNKNOWNSeoul National University HospitalSeoulSouth KoreaName: Jong-Hee Chae, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT03789734126.7691737.58944COMPLETEDBioLeaders Co., Ltd.Gyeonggi-doYongin-siSouth Korea NCT012540194.7009350.87959COMPLETEDGSK Investigational SiteLeuvenBelgium NCT01254019-49.27306-25.42778COMPLETEDGSK Investigational SiteCuritibaParanáBrazil NCT01254019-51.23019-30.03283COMPLETEDGSK Investigational SitePorto AlegreRio Grande do SulBrazil NCT01254019-47.81028-21.1775COMPLETEDGSK Investigational SiteRibeirão PretoSão PauloBrazil NCT01254019-46.53833-23.66389COMPLETEDGSK Investigational SiteSanto AndréSão PauloBrazil NCT01254019-43.18223-22.90642COMPLETEDGSK Investigational SiteRio de JaneiroBrazil NCT01254019-46.63611-23.5475COMPLETEDGSK Investigational SiteSão PauloBrazil NCT01254019-123.1193449.24966COMPLETEDGSK Investigational SiteVancouverBritish ColumbiaCanada NCT01254019-81.2330442.98339COMPLETEDGSK Investigational SiteLondonOntarioCanada NCT01254019-73.5878145.50884COMPLETEDGSK Investigational SiteMontrealQuebecCanada NCT01254019-70.64827-33.45694COMPLETEDGSK Investigational SiteSantiagoRegión Metro de SantiagoChile NCT01254019-70.64827-33.45694COMPLETEDGSK Investigational SiteSantiagoRegión Metro de SantiagoChile NCT01254019-70.64827-33.45694COMPLETEDGSK Investigational SiteSantiagoChile NCT0125401916.6079649.19522COMPLETEDGSK Investigational SiteBrnoCzechia NCT0125401914.4207650.08804COMPLETEDGSK Investigational SitePragueCzechia NCT012540193.0551250.63391COMPLETEDGSK Investigational SiteLilleFrance NCT012540195.3810743.29695COMPLETEDGSK Investigational SiteMarseilleFrance NCT01254019-1.5533647.21725COMPLETEDGSK Investigational SiteNantesFrance NCT012540192.348848.85341COMPLETEDGSK Investigational SiteParisFrance NCT012540191.4436743.60426COMPLETEDGSK Investigational SiteToulouseFrance NCT012540197.8522247.9959COMPLETEDGSK Investigational SiteFreiburg im BreisgauBaden-WurttembergGermany NCT0125401911.5754948.13743COMPLETEDGSK Investigational SiteMunichBavariaGermany NCT012540199.9322851.53443COMPLETEDGSK Investigational SiteGöttingenLower SaxonyGermany NCT012540197.0122851.45657COMPLETEDGSK Investigational SiteEssenNorth Rhine-WestphaliaGermany NCT0125401910.1348954.32133COMPLETEDGSK Investigational SiteKielSchleswig-HolsteinGermany NCT0125401919.0404547.49835COMPLETEDGSK Investigational SiteBudapestHungary NCT0125401911.6205744.83804COMPLETEDGSK Investigational SiteFerraraEmilia-RomagnaItaly NCT0125401912.5113341.89193COMPLETEDGSK Investigational SiteRomeLazioItaly NCT0125401912.5113341.89193COMPLETEDGSK Investigational SiteRomeLazioItaly NCT012540199.1895145.46427COMPLETEDGSK Investigational SiteMilanLombardyItaly NCT0125401915.5525638.19394COMPLETEDGSK Investigational SiteMessinaSicilyItaly NCT01254019144.4333343.36667COMPLETEDGSK Investigational SiteHyōgoJapan NCT01254019130.6918132.80589COMPLETEDGSK Investigational SiteKumamotoJapan NCT01254019139.6565735.90807COMPLETEDGSK Investigational SiteSaitamaJapan NCT01254019139.6917135.6895COMPLETEDGSK Investigational SiteTokyoJapan NCT012540194.4930652.15833COMPLETEDGSK Investigational SiteLeidenNetherlands NCT0125401910.7460959.91273COMPLETEDGSK Investigational SiteOsloNorway NCT0125401921.0117852.22977COMPLETEDGSK Investigational SiteWarsawPoland NCT0125401937.6178155.75204COMPLETEDGSK Investigational SiteMoscowRussia NCT01254019126.978437.566COMPLETEDGSK Investigational SiteSeoulSouth Korea NCT01254019-3.7025640.4165COMPLETEDGSK Investigational SiteMadridSpain NCT01254019-0.3796639.47391COMPLETEDGSK Investigational SiteValenciaSpain NCT01254019120.3133322.61626COMPLETEDGSK Investigational SiteKaohsiung CityTaiwan NCT0125401932.8542739.91987COMPLETEDGSK Investigational SiteAnkaraTurkey (Türkiye) NCT023153396.9550.93333TERMINATEDLungen Klinik - Chefarzt Abt. Pneumologie Kliniken der StadtKölng GmbHCologneGermany NCT05670730-92.2895934.74648COMPLETEDArkansas Children'sLittle RockArkansasUnited States NCT05670730-117.274232.84727COMPLETEDUCSDLa JollaCaliforniaUnited States NCT05670730-122.1430237.44188COMPLETEDStanford UniversityPalo AltoCaliforniaUnited States NCT05670730-84.3879833.749COMPLETEDRare Disease Research - AtlantaAtlantaGeorgiaUnited States NCT05670730-91.5301741.66113COMPLETEDUniversity of IowaIowa CityIowaUnited States NCT05670730-71.8022942.26259COMPLETEDUniversity of Massachusetts Chan Medical SchoolWorcesterMassachusettsUnited States NCT05670730-93.0932744.94441COMPLETEDGillette Children'sSaint PaulMinnesotaUnited States NCT05670730-79.0997336.07542COMPLETEDRare Disease Research NCHillsboroughNorth CarolinaUnited States NCT05670730-82.9987939.96118COMPLETEDAbigail Research Institute at Nationwide Children's HospitalColumbusOhioUnited States NCT05670730-98.4936329.42412COMPLETEDWorldwide Clinical Trials (Part A only)San AntonioTexasUnited States NCT02810028-0.1257451.50853COMPLETEDKing's College Hospital; The Royal London Hospital; University Hospital Southampton; King's College LondonLondonUnited Kingdom NCT02606136-118.2436834.05223TERMINATEDDavid Geffen School of Medicine at UCLALos AngelesCaliforniaUnited States NCT02606136-122.4194237.77493TERMINATEDUniversity of California San Francisco - Benioff Children's HospitalSan FranciscoCaliforniaUnited States NCT02606136-104.8319239.72943TERMINATEDChildren's Hospital ColoradoAuroraColoradoUnited States NCT02606136-84.3879833.749TERMINATEDRare Disease ResearchAtlantaGeorgiaUnited States NCT02606136-71.0597742.35843TERMINATEDBoston Children's HospitalBostonMassachusettsUnited States NCT02606136-90.1978938.62727TERMINATEDWashington University in St. Louis School of MedicineSt LouisMissouriUnited States NCT02606136-84.5143939.12711TERMINATEDCincinnati Children's Hospital Medical CenterCincinnatiOhioUnited States NCT02606136-122.6762145.52345TERMINATEDShriner's Hospital for Children - PortlandPortlandOregonUnited States NCT02606136-75.1636239.95238TERMINATEDThe Children's Hospital of PhiladelphiaPhiladelphiaPennsylvaniaUnited States NCT02606136-96.8066732.78306TERMINATEDChildren's Medical Center Ambulatory Care PavilionDallasTexasUnited States NCT06124196-86.7844436.16589RECRUITINGRECRUITINGVanderbilt University Medical CenterNashvilleTennesseeUnited StatesName: Jaclyn Tamaroff, MD, Role: CONTACT, Phone: 615-875-7853, Email: Jaclyn.tamaroff@vumc.org Name: Andrea Lee, MA, MLS, Role: CONTACT, Phone: 615-875-9602, Email: Andrea.e.lee@vumc.org NCT0686878432.8542739.91987ENROLLING_BY_INVITATIONLokman Hekim UniversityAnkaraÇankayaTurkey (Türkiye) NCT04972604-92.2895934.74648RECRUITINGRECRUITINGArkansas Children's HospitalLittle RockArkansasUnited StatesName: Aravindhan Veerapandiyan, MD, Role: CONTACT, Phone: 501-364-7373, Email: aveerapandiyan@uams.edu NCT04972604-117.9289533.61891RECRUITINGRECRUITINGCureDuchenneNewport BeachCaliforniaUnited StatesName: CD Link Staff, Role: CONTACT, Phone: 888-235-4655, Email: support@cureduchennelink.org Name: Debra Miller, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT04972604-117.8531133.78779RECRUITINGRECRUITINGChildren's Hospital of Orange CountyOrangeCaliforniaUnited StatesName: Linda Do, Role: CONTACT, Phone: 714-509-8945, Email: linh.do@choc.org Name: Amanda Fernandez, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT04972604-84.3879833.749RECRUITINGRECRUITINGRare Disease ResearchAtlantaGeorgiaUnited StatesName: Julia Zhu, Role: CONTACT, Phone: , Email: julia.zhu@rarediseaseresearch.com Name: Han Phan, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT04972604-91.5301741.66113RECRUITINGRECRUITINGUniversity of IowaIowa CityIowaUnited StatesName: Katherine Matthews, Role: CONTACT, Phone: , Email: katherine-matthews@uiowa.edu NCT04972604-94.631939.02223RECRUITINGRECRUITINGKansas University Clinical Research CenterFairwayKansasUnited StatesName: Cassidy Nelson, Role: CONTACT, Phone: , Email: cnelson15@kumc.edu Name: Jeffrey Statland, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT04972604-85.6680942.96336RECRUITINGRECRUITINGCorewell HealthGrand RapidsMichiganUnited StatesName: Abby Setterington, Role: CONTACT, Phone: , Email: abigail.setterington@corewellhealth.org Name: Jena Krueger, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT04972604-79.0997336.07542RECRUITINGRECRUITINGRare Disease Research CenterHillsboroughNorth CarolinaUnited StatesName: Annette Babu, Role: CONTACT, Phone: , Email: annette.babu@rarediseaseresearch.com Name: Edward Smith, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT04972604-76.6502540.28592RECRUITINGRECRUITINGPenn State HealthHersheyPennsylvaniaUnited StatesName: Ellen Stoute, Role: CONTACT, Phone: , Email: estoute@pennstatehealth.psu.edu Name: Ashutosh Kumar, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT04972604-97.1330733.21484RECRUITINGRECRUITINGNeurology Rare Disease CenterDentonTexasUnited StatesName: Guillermo Saldaña, Role: CONTACT, Phone: , Email: guillermo.saldana@Neuromdcenter.com Name: Diana Castro, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT034431152.348848.85341RECRUITINGUNKNOWNCochin Reference Center for Neuromuscular DiseasesParisFranceName: Karim Wahbi, MD, PhD, Role: CONTACT, Phone: +33158411653, Email: karim.wahbi@aphp.fr NCT03368742-118.2436834.05223ACTIVE_NOT_RECRUITINGDavid Geffen School of Medicine at UCLALos AngelesCaliforniaUnited States NCT03368742-82.3248329.65163ACTIVE_NOT_RECRUITINGUniversity of FloridaGainesvilleFloridaUnited States NCT01826422-99.1276619.42847COMPLETEDUnit of Medical Researcha in Nutrition, Pediatric Hospital, IMSS.Mexico CityMexico NCT00981266-119.6981934.42083WITHDRAWNMentor Worldwide LLCSanta BarbaraCaliforniaUnited States NCT01462292-121.494438.58157COMPLETEDGSK Investigational SiteSacramentoCaliforniaUnited States NCT01462292-122.1660837.42411COMPLETEDGSK Investigational SiteStanfordCaliforniaUnited States NCT01462292-87.1638630.35714COMPLETEDGSK Investigational SiteGulf BreezeFloridaUnited States NCT01462292-91.5301741.66113COMPLETEDGSK Investigational SiteIowa CityIowaUnited States NCT01462292-94.6274639.11417COMPLETEDGSK Investigational SiteKansas CityKansasUnited States NCT01462292-76.6121939.29038COMPLETEDGSK Investigational SiteBaltimoreMarylandUnited States NCT01462292-93.2638444.97997COMPLETEDGSK Investigational SiteMinneapolisMinnesotaUnited States NCT01462292-90.1978938.62727COMPLETEDGSK Investigational SiteSt LouisMissouriUnited States NCT01462292-74.0059740.71427COMPLETEDGSK Investigational SiteNew YorkNew YorkUnited States NCT01462292-78.8986235.99403COMPLETEDGSK Investigational SiteDurhamNorth CarolinaUnited States NCT01462292-84.5143939.12711COMPLETEDGSK Investigational SiteCincinnatiOhioUnited States NCT01462292-82.9987939.96118COMPLETEDGSK Investigational SiteColumbusOhioUnited States NCT01462292-122.6762145.52345COMPLETEDGSK Investigational SitePortlandOregonUnited States NCT01462292-96.8066732.78306COMPLETEDGSK Investigational SiteDallasTexasUnited States NCT00264888-84.5143939.12711COMPLETEDCincinnati Children's Hospital Medical CenterCincinnatiOhioUnited States NCT00264888-75.1636239.95238COMPLETEDChildren's Hospital of PhiladelphiaPhiladelphiaPennsylvaniaUnited States NCT00264888-111.8910540.76078COMPLETEDUniversity of UtahSalt Lake CityUtahUnited States NCT0228567328.9496641.01384RECRUITINGUNKNOWNAcibadem LabcellIstanbulUskudarTurkey (Türkiye)Name: Ercument Ovali, Prof. Dr., Role: CONTACT, Phone: +905325729174, Email: ercument.ovali@acibadem.com.tr NCT0183406673.8553518.51957RECRUITINGUNKNOWNChaitnany HospitalPuneMaharashtraIndiaName: Sachin P Jamadar, D ORTHO, Role: CONTACT, Phone: +918888788880, Email: sac2751982@gmail.com Name: ANANT E BAGUL, MS ORTHO, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT04129294139.4850835.72603COMPLETEDNational Center of Neurology and PsychiatryKodairaTokyoJapan NCT05257473-117.8531133.78779ACTIVE_NOT_RECRUITINGUniversity of California, IrvineOrangeCaliforniaUnited States NCT05257473-104.8319239.72943ACTIVE_NOT_RECRUITINGUniversity of Colorado Anschutz Medical CampusAuroraColoradoUnited States NCT05257473-91.5301741.66113ACTIVE_NOT_RECRUITINGUniversity of IowaIowa CityIowaUnited States NCT05257473-94.6274639.11417ACTIVE_NOT_RECRUITINGUniversity of Kansas Medical CenterKansas CityKansasUnited States NCT05257473-76.6121939.29038ACTIVE_NOT_RECRUITINGKennedy Krieger InstituteBaltimoreMarylandUnited States NCT05257473-93.2638444.97997ACTIVE_NOT_RECRUITINGUniversity of MinnesotaMinneapolisMinnesotaUnited States NCT05257473-90.1978938.62727ACTIVE_NOT_RECRUITINGWashington University School of MedicineSt LouisMissouriUnited States NCT05257473-82.9987939.96118ACTIVE_NOT_RECRUITINGNationwide Children's HospitalColumbusOhioUnited States NCT05257473-77.4602637.55376ACTIVE_NOT_RECRUITINGVirginia Commonwealth UniversityRichmondVirginiaUnited States NCT05257473174.76349-36.84853ACTIVE_NOT_RECRUITINGUniversity of AucklandAucklandNew Zealand NCT05257473-1.6139654.97328ACTIVE_NOT_RECRUITINGJohn Walton Muscular Dystrophy Research CentreNewcastle upon TyneUnited Kingdom NCT020209542.348848.85341RECRUITINGUNKNOWNInstitut de MyologieParisÎle-de-France RegionFranceName: Nawal Berber, PhD, Role: CONTACT, Phone: , Email: n.benammar@institut-myologie.org Name: Karim Wahbi, MD, PhD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT05185622-114.0852951.05011COMPLETEDAlberta's Children HospitalCalgaryAlbertaCanada NCT05185622-123.1193449.24966COMPLETEDBritish Columbia Children's HospitalVancouverBritish ColumbiaCanada NCT05185622-75.6981245.41117COMPLETEDChildren's Hospital of Eastern OntarioOttawaOntarioCanada NCT05185622-79.3986443.70643COMPLETEDThe Hospital for Sick ChildrenTorontoOntarioCanada NCT05185622-73.5878145.50884COMPLETEDMontreal Childrens HospitalMontrealCanada NCT029582024.7009350.87959TERMINATEDUniversitair Ziekenhuis LeuvenLeuvenBelgium NCT0295820211.6205744.83804TERMINATEDS.Anna HospitalFerraraItaly NCT0295820212.5113341.89193TERMINATEDPoliclinico Univsersitario Agostino GemelliRomeItaly NCT029582024.4930652.15833TERMINATEDLeiden University Medical CenterLeidenNetherlands NCT0295820211.9667957.70716TERMINATEDDrottning Silvias Barn- ochungdomssjukhusGothenburgSweden NCT074021227.0122851.45657NOT_YET_RECRUITINGUniversitätsklinikum Essen Klinik für Kinderheilkunde IEssenGermanyName: Ulrike Schara-Schmidt, Prof. Dr. med., Role: CONTACT, Phone: 0049 201 723 2508, Email: Ulrike.Schara-Schmidt@uk-essen.de Name: , Role: CONTACT, Phone: , Email: Ulrike.Schara-Schmidt@uk-essen.de Name: Ulrike Schara-Schmidt, Prof. Dr. med., Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT074021228.6907949.40768NOT_YET_RECRUITINGUniversitätsklinik Heidelberg, Zentrum für Kinder- und JugendmedizinHeidelbergGermanyName: Andreas Ziegler, Dr. med., Role: CONTACT, Phone: 004962215632207, Email: Andreas.Ziegler@med.uni-heidelberg.de Name: Andreas Ziegler, Dr. med., Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT01540409-118.1892333.76696COMPLETEDMiller Children's HospitalLong BeachCaliforniaUnited States NCT01540409-82.3248329.65163COMPLETEDUniversity of Florida Clinical Research CenterGainesvilleFloridaUnited States NCT01540409-87.6500541.85003COMPLETEDRush University Medical CenterChicagoIllinoisUnited States NCT01540409-71.0597742.35843COMPLETEDMassachusetts General HospitalBostonMassachusettsUnited States NCT01540409-90.1978938.62727COMPLETEDWashington University Medical SchoolSt LouisMissouriUnited States NCT01540409-76.217743.10646COMPLETEDSummerwood Pediatrics/Infusacare Medical ServicesLiverpoolNew YorkUnited States NCT01540409-80.8431335.22709COMPLETEDLevine Children's HospitalCharlotteNorth CarolinaUnited States NCT01540409-82.9987939.96118COMPLETEDNationwide Children's HospitalColumbusOhioUnited States NCT01540409-79.9958940.44062COMPLETEDChildren's Hospital of Pittsburgh of UPMCPittsburghPennsylvaniaUnited States NCT01540409-76.2852236.84681COMPLETEDChildren's Specialty Group, Pediatric NeurologyNorfolkVirginiaUnited States NCT01540409-92.7049345.32052COMPLETEDOsceola Medical CenterOsceolaWisconsinUnited States NCT0657985914.1649442.34827NOT_YET_RECRUITINGASL LANCIANO VASTO CHIETI, Laboratorio di Patologie Neuromuscolari del Centro di Riferimento Regionale per le Malattie NeuromuscolariChietiChItalyName: antonio di muzio, Role: CONTACT, Phone: , Email: antoniodimuzio1@gmail.com NCT0657985912.5983642.78235NOT_YET_RECRUITINGASST Grande Ospedale Metropolitano Niguarda, Centro Clinico Nemo MilanoMilanMIItalyName: valeria sansone, Role: CONTACT, Phone: , Email: valeria.sansone@centrocliniconemo.it NCT0657985915.5525638.19394NOT_YET_RECRUITINGAzienda Ospedaliera Universitaria "G. Martino"UOC di Neurologia e Malattie NeuromuscolariMessinaItalyName: sonia messina, Role: CONTACT, Phone: , Email: smessina@unime.it NCT0657985911.1064244.99364NOT_YET_RECRUITINGFondazione Policlinico Universitario A. Gemelli IRCCS, UOC NEMO PediatricoRomaItalyName: Marika Pane, Role: CONTACT, Phone: +0630158221, Email: marika.pane@policlinicogemelli.it Name: Daniela Leone, Role: CONTACT, Phone: , Email: daniela.leone@policlinicogemelli.it Name: Marika Pane, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: Name: Claudia Brogna, Role: SUB_INVESTIGATOR, Phone: , Email: Name: Beatrice Berti, Role: SUB_INVESTIGATOR, Phone: , Email: NCT03236662-121.494438.58157COMPLETEDUC Davis Medical CenterSacramentoCaliforniaUnited States NCT024709628.5547.36667COMPLETEDChildren's HospitalZurichCanton of ZurichSwitzerland NCT00033813-77.0363738.89511COMPLETEDChildren's National Medical CenterWashington D.C.District of ColumbiaUnited States NCT02251600-118.2436834.05223COMPLETEDUCLALos AngelesCaliforniaUnited States NCT02251600-87.6500541.85003COMPLETEDLurie Children's HospitalChicagoIllinoisUnited States NCT02251600-77.6155643.15478COMPLETEDUniversity of Rochester Medical CenterRochesterNew YorkUnited States NCT02251600-111.8910540.76078COMPLETEDUniversity of UtahSalt Lake CityUtahUnited States NCT018264744.7009350.87959TERMINATEDUZ LeuvenLeuvenBelgium NCT018264742.348848.85341TERMINATEDInstitut de MyologieParisFrance NCT0182647411.1064244.99364TERMINATEDPoliclinico Universitario Agostino GemelliRomaItaly NCT018264744.4930652.15833TERMINATEDLeids Universitair Medisch CentrumLeidenNetherlands NCT01826474-0.1257451.50853TERMINATEDGreat Ormond Street Hospital for ChildrenLondonUnited Kingdom NCT01826474-5.8897954.21804TERMINATEDInstitute of Genetic Medicine International Centre for LifeNewcastleUnited Kingdom NCT0133529515.5525638.19394COMPLETEDDepartment of Neuroscience, Psychiatry and Anestesiology, Policlinico of MessinaMessinaMEItaly NCT061474142.348848.85341RECRUITINGRECRUITINGHôpital Cochin, Maternité Port-Royal, service de Gynécologie obstétriqueParisFranceName: Vassilis TSATSARIS, MD, PhD, Role: CONTACT, Phone: , Email: vassilis.tsatsaris@aphp.fr NCT03655223-78.8602935.89709ENROLLING_BY_INVITATIONRTI InternationalResearch Triangle ParkNorth CarolinaUnited States NCT06445985-2.7045253.76282ACTIVE_NOT_RECRUITINGLancashire Teaching Hospitals NHS Foundation TrustPrestonLancashireUnited Kingdom NCT06054971-75.5138140.03622COMPLETEDRed Nucleus SolutionsMalvernPennsylvaniaUnited States NCT01865084-118.2436834.05223TERMINATEDCedars Sinai Medical CenterLos AngelesCaliforniaUnited States NCT01865084-121.494438.58157TERMINATEDUniversity of California, Davis - Health SystemsSacramentoCaliforniaUnited States NCT01865084-104.8319239.72943TERMINATEDChildren's HospitalAuroraColoradoUnited States NCT01865084-82.3248329.65163TERMINATEDUniversity of Florida Health Science CenterGainesvilleFloridaUnited States NCT01865084-87.1638630.35714TERMINATEDNW Florida Clinical Research GroupGulf BreezeFloridaUnited States NCT01865084-81.3792428.53834TERMINATEDNemours Children's HospitalOrlandoFloridaUnited States NCT01865084-87.6500541.85003TERMINATEDAnn and Robert Lurie Children's Hospital of ChicagoChicagoIllinoisUnited States NCT01865084-91.5301741.66113TERMINATEDUniversity of IowaIowa CityIowaUnited States NCT01865084-94.6274639.11417TERMINATEDUniversity of Kansas Medical CenterKansas CityKansasUnited States NCT01865084-90.1978938.62727TERMINATEDWashington University Medical CenterSt LouisMissouriUnited States NCT01865084-80.8431335.22709TERMINATEDCarolinas Healthcare SystemCharlotteNorth CarolinaUnited States NCT01865084-78.8986235.99403TERMINATEDDuke University Medical CenterDurhamNorth CarolinaUnited States NCT01865084-84.5143939.12711TERMINATEDChildrens Hospital Medical CenterCincinnatiOhioUnited States NCT01865084-122.6762145.52345TERMINATEDOregon Health and Science UniversityPortlandOregonUnited States NCT01865084-76.6502540.28592TERMINATEDPennsylvania State University College of MedicineHersheyPennsylvaniaUnited States NCT01865084-75.1636239.95238TERMINATEDChildrens Hospital of PhiladelphiaPhiladelphiaPennsylvaniaUnited States NCT01865084-79.9958940.44062TERMINATEDChildrens Hospital of PittsburghPittsburghPennsylvaniaUnited States NCT01865084-86.7844436.16589TERMINATEDVanderbilt University Medical CenterNashvilleTennesseeUnited States NCT01865084-96.8066732.78306TERMINATEDChildren's Medical Center DallasDallasTexasUnited States NCT01865084-98.4936329.42412TERMINATEDUniv of Texas Health Science Center at San AntonioSan AntonioTexasUnited States NCT01865084-111.8910540.76078TERMINATEDUniversity of Utah School of MedicineSalt Lake CityUtahUnited States NCT01865084-76.2852236.84681TERMINATEDChildren of the King's DaughtersNorfolkVirginiaUnited States NCT01865084-122.3320747.60621TERMINATEDSeattle Children's Hospital Research FoundationSeattleWashingtonUnited States NCT018650843.7166751.05TERMINATEDFor additional information regarding investigative sites for this trial, contact 1-877-CTLILLY (1-877-285-4559, 1-317-615-4559) Mon - Fri from 9 AM to 5 PM Eastern Time (UTC/GMT - 5 hours, EST), or speak with your personal physician.GhentBelgium NCT018650844.7009350.87959TERMINATEDFor additional information regarding investigative sites for this trial, contact 1-877-CTLILLY (1-877-285-4559, 1-317-615-4559) Mon - Fri from 9 AM to 5 PM Eastern Time (UTC/GMT - 5 hours, EST), or speak with your personal physician.LeuvenBelgium NCT018650845.5674950.63373TERMINATEDFor additional information regarding investigative sites for this trial, contact 1-877-CTLILLY (1-877-285-4559, 1-317-615-4559) Mon - Fri from 9 AM to 5 PM Eastern Time (UTC/GMT - 5 hours, EST), or speak with your personal physician.LiègeBelgium NCT01865084-114.0852951.05011TERMINATEDFor additional information regarding investigative sites for this trial, contact 1-877-CTLILLY (1-877-285-4559, 1-317-615-4559) Mon - Fri from 9 AM to 5 PM Eastern Time (UTC/GMT - 5 hours, EST), or speak with your personal physician.CalgaryAlbertaCanada NCT01865084-123.1193449.24966TERMINATEDFor additional information regarding investigative sites for this trial, contact 1-877-CTLILLY (1-877-285-4559, 1-317-615-4559) Mon - Fri from 9 AM to 5 PM Eastern Time (UTC/GMT - 5 hours, EST), or speak with your personal physician.VancouverBritish ColumbiaCanada NCT01865084-97.1470449.8844TERMINATEDFor additional information regarding investigative sites for this trial, contact 1-877-CTLILLY (1-877-285-4559, 1-317-615-4559) Mon - Fri from 9 AM to 5 PM Eastern Time (UTC/GMT - 5 hours, EST), or speak with your personal physician.WinnipegManitobaCanada NCT01865084-63.5768844.64269TERMINATEDFor additional information regarding investigative sites for this trial, contact 1-877-CTLILLY (1-877-285-4559, 1-317-615-4559) Mon - Fri from 9 AM to 5 PM Eastern Time (UTC/GMT - 5 hours, EST), or speak with your personal physician.HalifaxNova ScotiaCanada NCT01865084-81.2330442.98339TERMINATEDFor additional information regarding investigative sites for this trial, contact 1-877-CTLILLY (1-877-285-4559, 1-317-615-4559) Mon - Fri from 9 AM to 5 PM Eastern Time (UTC/GMT - 5 hours, EST), or speak with your personal physician.LondonOntarioCanada NCT01865084-75.6981245.41117TERMINATEDFor additional information regarding investigative sites for this trial, contact 1-877-CTLILLY (1-877-285-4559, 1-317-615-4559) Mon - Fri from 9 AM to 5 PM Eastern Time (UTC/GMT - 5 hours, EST), or speak with your personal physician.OttawaOntarioCanada NCT01865084-0.5520247.47156TERMINATEDFor additional information regarding investigative sites for this trial, contact 1-877-CTLILLY (1-877-285-4559, 1-317-615-4559) Mon - Fri from 9 AM to 5 PM Eastern Time (UTC/GMT - 5 hours, EST), or speak with your personal physician.AngersFrance NCT01865084-1.5533647.21725TERMINATEDFor additional information regarding investigative sites for this trial, contact 1-877-CTLILLY (1-877-285-4559, 1-317-615-4559) Mon - Fri from 9 AM to 5 PM Eastern Time (UTC/GMT - 5 hours, EST), or speak with your personal physician.NantesFrance NCT0186508413.7383251.05089TERMINATEDFor additional information regarding investigative sites for this trial, contact 1-877-CTLILLY (1-877-285-4559, 1-317-615-4559) Mon - Fri from 9 AM to 5 PM Eastern Time (UTC/GMT - 5 hours, EST), or speak with your personal physician.DresdenGermany NCT018650847.0122851.45657TERMINATEDFor additional information regarding investigative sites for this trial, contact 1-877-CTLILLY (1-877-285-4559, 1-317-615-4559) Mon - Fri from 9 AM to 5 PM Eastern Time (UTC/GMT - 5 hours, EST), or speak with your personal physician.EssenGermany NCT018650847.8522247.9959TERMINATEDFor additional information regarding investigative sites for this trial, contact 1-877-CTLILLY (1-877-285-4559, 1-317-615-4559) Mon - Fri from 9 AM to 5 PM Eastern Time (UTC/GMT - 5 hours, EST), or speak with your personal physician.Freiburg im BreisgauGermany NCT018650849.9322851.53443TERMINATEDFor additional information regarding investigative sites for this trial, contact 1-877-CTLILLY (1-877-285-4559, 1-317-615-4559) Mon - Fri from 9 AM to 5 PM Eastern Time (UTC/GMT - 5 hours, EST), or speak with your personal physician.GöttingenGermany NCT0186508411.5754948.13743TERMINATEDFor additional information regarding investigative sites for this trial, contact 1-877-CTLILLY (1-877-285-4559, 1-317-615-4559) Mon - Fri from 9 AM to 5 PM Eastern Time (UTC/GMT - 5 hours, EST), or speak with your personal physician.MunichGermany NCT0186508411.8721145.21604TERMINATEDFor additional information regarding investigative sites for this trial, contact 1-877-CTLILLY (1-877-285-4559, 1-317-615-4559) Mon - Fri from 9 AM to 5 PM Eastern Time (UTC/GMT - 5 hours, EST), or speak with your personal physician.GenovaItaly NCT0186508412.5983642.78235TERMINATEDFor additional information regarding investigative sites for this trial, contact 1-877-CTLILLY (1-877-285-4559, 1-317-615-4559) Mon - Fri from 9 AM to 5 PM Eastern Time (UTC/GMT - 5 hours, EST), or speak with your personal physician.MilanItaly NCT0186508411.1426144.38225TERMINATEDFor additional information regarding investigative sites for this trial, contact 1-877-CTLILLY (1-877-285-4559, 1-317-615-4559) Mon - Fri from 9 AM to 5 PM Eastern Time (UTC/GMT - 5 hours, EST), or speak with your personal physician.PadovaItaly NCT0186508412.5113341.89193TERMINATEDFor additional information regarding investigative sites for this trial, contact 1-877-CTLILLY (1-877-285-4559, 1-317-615-4559) Mon - Fri from 9 AM to 5 PM Eastern Time (UTC/GMT - 5 hours, EST), or speak with your personal physician.RomeItaly NCT01865084130.6215832.51879TERMINATEDFor additional information regarding investigative sites for this trial, contact 1-877-CTLILLY (1-877-285-4559, 1-317-615-4559) Mon - Fri from 9 AM to 5 PM Eastern Time (UTC/GMT - 5 hours, EST), or speak with your personal physician.AichiJapan NCT01865084138.1833336.65TERMINATEDFor additional information regarding investigative sites for this trial, contact 1-877-CTLILLY (1-877-285-4559, 1-317-615-4559) Mon - Fri from 9 AM to 5 PM Eastern Time (UTC/GMT - 5 hours, EST), or speak with your personal physician.NaganoJapan NCT01865084139.6565735.90807TERMINATEDFor additional information regarding investigative sites for this trial, contact 1-877-CTLILLY (1-877-285-4559, 1-317-615-4559) Mon - Fri from 9 AM to 5 PM Eastern Time (UTC/GMT - 5 hours, EST), or speak with your personal physician.SaitamaJapan NCT01865084139.6917135.6895TERMINATEDFor additional information regarding investigative sites for this trial, contact 1-877-CTLILLY (1-877-285-4559, 1-317-615-4559) Mon - Fri from 9 AM to 5 PM Eastern Time (UTC/GMT - 5 hours, EST), or speak with your personal physician.TokyoJapan NCT018650844.4930652.15833TERMINATEDFor additional information regarding investigative sites for this trial, contact 1-877-CTLILLY (1-877-285-4559, 1-317-615-4559) Mon - Fri from 9 AM to 5 PM Eastern Time (UTC/GMT - 5 hours, EST), or speak with your personal physician.LeidenNetherlands NCT018650845.8527851.8425TERMINATEDFor additional information regarding investigative sites for this trial, contact 1-877-CTLILLY (1-877-285-4559, 1-317-615-4559) Mon - Fri from 9 AM to 5 PM Eastern Time (UTC/GMT - 5 hours, EST), or speak with your personal physician.NijmegenNetherlands NCT01865084-66.1057218.46633TERMINATEDUniversity of Puerto Rico, Medical Sciences CampusSan JuanPuerto Rico NCT0186508437.6178155.75204TERMINATEDFor additional information regarding investigative sites for this trial, contact 1-877-CTLILLY (1-877-285-4559, 1-317-615-4559) Mon - Fri from 9 AM to 5 PM Eastern Time (UTC/GMT - 5 hours, EST), or speak with your personal physician.MoscowRussia NCT01865084126.978437.566TERMINATEDFor additional information regarding investigative sites for this trial, contact 1-877-CTLILLY (1-877-285-4559, 1-317-615-4559) Mon - Fri from 9 AM to 5 PM Eastern Time (UTC/GMT - 5 hours, EST), or speak with your personal physician.SeoulSouth Korea NCT018650842.1589941.38879TERMINATEDFor additional information regarding investigative sites for this trial, contact 1-877-CTLILLY (1-877-285-4559, 1-317-615-4559) Mon - Fri from 9 AM to 5 PM Eastern Time (UTC/GMT - 5 hours, EST), or speak with your personal physician.BarcelonaSpain NCT01865084-1.9749943.31283TERMINATEDFor additional information regarding investigative sites for this trial, contact 1-877-CTLILLY (1-877-285-4559, 1-317-615-4559) Mon - Fri from 9 AM to 5 PM Eastern Time (UTC/GMT - 5 hours, EST), or speak with your personal physician.Donostia / San SebastianSpain NCT01865084-3.7025640.4165TERMINATEDFor additional information regarding investigative sites for this trial, contact 1-877-CTLILLY (1-877-285-4559, 1-317-615-4559) Mon - Fri from 9 AM to 5 PM Eastern Time (UTC/GMT - 5 hours, EST), or speak with your personal physician.MadridSpain NCT01865084-0.3796639.47391TERMINATEDFor additional information regarding investigative sites for this trial, contact 1-877-CTLILLY (1-877-285-4559, 1-317-615-4559) Mon - Fri from 9 AM to 5 PM Eastern Time (UTC/GMT - 5 hours, EST), or speak with your personal physician.ValenciaSpain NCT01865084120.3133322.61626TERMINATEDFor additional information regarding investigative sites for this trial, contact 1-877-CTLILLY (1-877-285-4559, 1-317-615-4559) Mon - Fri from 9 AM to 5 PM Eastern Time (UTC/GMT - 5 hours, EST), or speak with your personal physician.Kaohsiung CityTaiwan NCT01865084121.5263925.05306TERMINATEDFor additional information regarding investigative sites for this trial, contact 1-877-CTLILLY (1-877-285-4559, 1-317-615-4559) Mon - Fri from 9 AM to 5 PM Eastern Time (UTC/GMT - 5 hours, EST), or speak with your personal physician.TaipeiTaiwan NCT0186508435.3253136.98615TERMINATEDFor additional information regarding investigative sites for this trial, contact 1-877-CTLILLY (1-877-285-4559, 1-317-615-4559) Mon - Fri from 9 AM to 5 PM Eastern Time (UTC/GMT - 5 hours, EST), or speak with your personal physician.AdanaTurkey (Türkiye) NCT0186508432.8542739.91987TERMINATEDFor additional information regarding investigative sites for this trial, contact 1-877-CTLILLY (1-877-285-4559, 1-317-615-4559) Mon - Fri from 9 AM to 5 PM Eastern Time (UTC/GMT - 5 hours, EST), or speak with your personal physician.AnkaraTurkey (Türkiye) NCT01865084-1.2559651.75222TERMINATEDFor additional information regarding investigative sites for this trial, contact 1-877-CTLILLY (1-877-285-4559, 1-317-615-4559) Mon - Fri from 9 AM to 5 PM Eastern Time (UTC/GMT - 5 hours, EST), or speak with your personal physician.OxfordOxfordshireUnited Kingdom NCT0758174331.2086130.00944NOT_YET_RECRUITINGRehamGizaEgypt NCT021096923.8763543.61093RECRUITINGUNKNOWNMontpellier HospitalMontpellierFranceName: Francois Rivier, Professor, Role: CONTACT, Phone: , Email: NCT06363526-4.4203436.72016ENROLLING_BY_INVITATIONRocío Martín-ValeroMálagaSpain NCT04281485-92.2895934.74648ACTIVE_NOT_RECRUITINGArkansas Children's HospitalLittle RockArkansasUnited States NCT04281485-92.2895934.74648ACTIVE_NOT_RECRUITINGArkansas Children'sLittle RockArkansasUnited States NCT04281485-118.2436834.05223ACTIVE_NOT_RECRUITINGUCLA Medical CenterLos AngelesCaliforniaUnited States NCT04281485-82.3248329.65163ACTIVE_NOT_RECRUITINGUniversity of FloridaGainesvilleFloridaUnited States NCT04281485-91.5301741.66113ACTIVE_NOT_RECRUITINGUniversity of Iowa Hospitals and ClinicsIowa CityIowaUnited States NCT04281485-94.631939.02223ACTIVE_NOT_RECRUITINGKU Clinical Research Center - Clinical and Translational Science Unit (CTSU) - FairwayFairwayKansasUnited States NCT04281485-94.6274639.11417ACTIVE_NOT_RECRUITINGKU Clinical Research Center - Clinical and Translational Science Unit (CTSU) - RainbowKansas CityKansasUnited States NCT04281485-94.6274639.11417ACTIVE_NOT_RECRUITINGUniversity of Kansas Hospital - Investigational PharmacyKansas CityKansasUnited States NCT04281485-94.6274639.11417ACTIVE_NOT_RECRUITINGUniversity of Kansas Hospital - Pediatric and Pediatric ICU - Operating RoomKansas CityKansasUnited States NCT04281485-94.6274639.11417ACTIVE_NOT_RECRUITINGUniversity of Kansas Medical CenterKansas CityKansasUnited States NCT04281485-94.6335738.99167ACTIVE_NOT_RECRUITINGPediatric CardiologyPrairie VillageKansasUnited States NCT04281485-78.8986235.99403ACTIVE_NOT_RECRUITINGLenox Baker Children's HospitalDurhamNorth CarolinaUnited States NCT04281485-75.1636239.95238ACTIVE_NOT_RECRUITINGThe Children's Hospital of PhiladelphiaPhiladelphiaPennsylvaniaUnited States NCT04281485-111.8910540.76078ACTIVE_NOT_RECRUITINGPrimary Childrens HospitalSalt Lake CityUtahUnited States NCT04281485-111.8910540.76078ACTIVE_NOT_RECRUITINGUniversity of Utah Clinical Neurosciences CenterSalt Lake CityUtahUnited States NCT04281485-111.8910540.76078ACTIVE_NOT_RECRUITINGUniversity of Utah HospitalSalt Lake CityUtahUnited States NCT04281485-122.3320747.60621ACTIVE_NOT_RECRUITINGSeattle Children'sSeattleWashingtonUnited States NCT04281485150.98768-33.80383ACTIVE_NOT_RECRUITINGThe Children's Hospital at WestmeadWestmeadNew South WalesAustralia NCT04281485144.95-37.78333ACTIVE_NOT_RECRUITINGThe Royal Children's Hospital MelbourneParkvilleVictoriaAustralia NCT04281485115.8073-31.98184ACTIVE_NOT_RECRUITINGPerth Children's HospitalNedlandsWestern AustraliaAustralia NCT042814853.7166751.05ACTIVE_NOT_RECRUITINGUZ GentGhentBelgium NCT042814854.7009350.87959ACTIVE_NOT_RECRUITINGUZ leuvenLeuvenBelgium NCT04281485-114.0852951.05011ACTIVE_NOT_RECRUITINGAlberta Children's HospitalCalgaryAlbertaCanada NCT04281485-81.2330442.98339ACTIVE_NOT_RECRUITINGChildren's Hospital - London Health Sciences CentreLondonOntarioCanada NCT04281485-75.6981245.41117ACTIVE_NOT_RECRUITINGChildrens Hospital of Eastern OntarioOttawaOntarioCanada NCT04281485-79.3986443.70643ACTIVE_NOT_RECRUITINGThe Hospital For Sick ChildrenTorontoOntarioCanada NCT04281485-1.5533647.21725ACTIVE_NOT_RECRUITINGCHU de Nantes- Hotel DieuNantesFrance NCT042814852.348848.85341ACTIVE_NOT_RECRUITINGHopital NeckerParisFrance NCT0428148513.4105352.52437ACTIVE_NOT_RECRUITINGCharité - Universitätsmedizin BerlinBerlinGermany NCT042814857.0122851.45657ACTIVE_NOT_RECRUITINGUniversitatsklinikum EssenEssenGermany NCT0428148535.2163331.76904ACTIVE_NOT_RECRUITINGHadassah University Medical Center, Ein KeremJerusalemIsrael NCT0428148511.1064244.99364ACTIVE_NOT_RECRUITINGFondazione Policlinico Universitario Agostino Gemelli IRCCSRomaItaly NCT0428148512.5113341.89193ACTIVE_NOT_RECRUITINGIRCCS Ospedale Pediatrico Bambino GesùRomeItaly NCT04281485136.9064135.18147ACTIVE_NOT_RECRUITINGNagoya City University HospitalNagoyaAichi-kenJapan NCT04281485135.3319934.71562ACTIVE_NOT_RECRUITINGHyogo College of Medicine College HospitalNishinomiyaHyōgoJapan NCT04281485139.6917135.6895ACTIVE_NOT_RECRUITINGNational Center of Neurology and PsychiatryTokyoJapan NCT0428148530.3141359.93863ACTIVE_NOT_RECRUITINGSaint Petersburg State Paediatric Medical UniversitySaint PetersburgRussia NCT0428148560.6152956.85733ACTIVE_NOT_RECRUITINGState Autonomous Healthcare Institution of Sverdlovsk Region Children's City Clinical Hospital No 9YekaterinburgRussia NCT04281485129.0335835.34199ACTIVE_NOT_RECRUITINGPusan National University Yangsan HospitalYangsanGyeongsangnam-doSouth Korea NCT04281485126.978437.566ACTIVE_NOT_RECRUITINGSeoul National University HospitalSeoulSouth Korea NCT04281485126.978437.566ACTIVE_NOT_RECRUITINGSamsung Medical CenterSeoulSouth Korea NCT042814852.0880941.37732ACTIVE_NOT_RECRUITINGHospital Sant Joan de DéuEsplugues de LlobregatBarcelonaSpain NCT042814852.1589941.38879ACTIVE_NOT_RECRUITINGHospital Universitario Vall d'HebronBarcelonaSpain NCT04281485-0.3796639.47391ACTIVE_NOT_RECRUITINGHospital Universitari i Politecnic La Fe de ValenciaValenciaSpain NCT042814857.4474446.94809ACTIVE_NOT_RECRUITINGInselspital, University Children's Hospital BerneBernSwitzerland NCT042814858.5547.36667ACTIVE_NOT_RECRUITINGUniversitaets-Kinderspital ZuerichZurichSwitzerland NCT04281485120.3133322.61626ACTIVE_NOT_RECRUITINGKaohsiung Medical University Chung-Ho Memorial HospitalKaohsiung CityTaiwan NCT04281485121.5263925.05306ACTIVE_NOT_RECRUITINGNational Taiwan University HospitalTaipeiTaiwan NCT04281485121.5263925.05306ACTIVE_NOT_RECRUITINGTaipei Veterans General HospitalTaipeiTaiwan NCT04281485-1.6139654.97328ACTIVE_NOT_RECRUITINGThe Newcastle upon Tyne Hospitals NHS Foundation Trust, Royal Victoria InfirmaryNewcastle upon TyneEnglandUnited Kingdom NCT04281485-2.9779453.41058ACTIVE_NOT_RECRUITINGAlder Hey Children's NHS Foundation TrustLiverpoolMerseysideUnited Kingdom NCT04281485-0.1257451.50853ACTIVE_NOT_RECRUITINGGreat Ormond Street Institute of Child HealthLondonUnited Kingdom NCT05409079-93.0932744.94441RECRUITINGUNKNOWNGillette Children'sSaint PaulMinnesotaUnited StatesName: Research, Role: CONTACT, Phone: , Email: research@gillettechildrens.com NCT0664392332.8542739.91987NOT_YET_RECRUITINGLokman Hekim UniversityAnkaraÇankayaTurkey (Türkiye)Name: Demet Öztürk, M.Sc., Role: CONTACT, Phone: +0312 444 85 48, Email: demet.ozturk@lokmanhekim.edu.tr NCT067739884.7009350.87959RECRUITINGRECRUITINGUniversitaire Ziekenhuizen KU LeuvenLeuvenVlaams-BrabantBelgiumName: Bart Vrijsen, PhD, Role: CONTACT, Phone: 32 16 342522, Email: bart.vrijsen@uzleuven.be NCT0533019532.8542739.91987COMPLETEDHacettepe University, Faculty of Physical Therapy and RehabilitationAnkaraAltındağTurkey (Türkiye) NCT05429372-82.3248329.65163TERMINATEDUF Health Shands HospitalGainesvilleFloridaUnited States NCT05429372-82.3248329.65163TERMINATEDUniversity of FloridaGainesvilleFloridaUnited States NCT05429372-75.1636239.95238TERMINATEDThe Children's Hospital of PhiladelphiaPhiladelphiaPennsylvaniaUnited States NCT05429372-75.1636239.95238TERMINATEDThe Children's Hospital of PhiladelphiaPhiladelphiaPennsylvaniaUnited States NCT05429372-111.8910540.76078TERMINATEDCTSI Clinical Research CenterSalt Lake CityUtahUnited States NCT05429372-111.8910540.76078TERMINATEDUniversity of Utah Imaging and Neurosciences CenterSalt Lake CityUtahUnited States NCT05429372-111.8910540.76078TERMINATEDUniversity of Utah Hospital & Clinics Investigational Drug ServicesSalt Lake CityUtahUnited States NCT05429372-111.8910540.76078TERMINATEDPrimary Children's HospitalSalt Lake CityUtahUnited States NCT05429372-111.8910540.76078TERMINATEDUniversity of Utah Clinical Neurosciences CenterSalt Lake CityUtahUnited States NCT05429372-111.8910540.76078TERMINATEDUniversity of Utah HospitalSalt Lake CityUtahUnited States NCT05429372150.98768-33.80383TERMINATEDThe Children's Hospital at WestmeadWestmeadNew South WalesAustralia NCT05429372144.95-37.78333TERMINATEDThe Royal Children's Hospital MelbourneParkvilleVictoriaAustralia NCT05429372115.8073-31.98184TERMINATEDPerth Children's HospitalNedlandsWestern AustraliaAustralia NCT01856868-121.494438.58157COMPLETEDUniversity of California, DavisSacramentoCaliforniaUnited States NCT01168908-76.6121939.29038TERMINATEDKennedy Krieger Institute, Johns Hopkins School of MedicineBaltimoreMarylandUnited States NCT05160415-84.3879833.749COMPLETEDRare Disease ResearchAtlantaGeorgiaUnited States NCT03373968-121.494438.58157COMPLETEDRECRUITINGUniversity of California - Davis Medical Center - Devis Physical Medicine & RehabilitationSacramentoCaliforniaUnited States NCT03373968-117.1647232.71571COMPLETEDRECRUITINGRady Children's Hospital center - UCSD Department of NeuroscienceSan DiegoCaliforniaUnited States NCT03373968-72.6850941.76371COMPLETEDRECRUITINGConnecticut Children's Medical Center, Neurology DivisionHartfordConnecticutUnited States NCT03373968-82.3248329.65163COMPLETEDRECRUITINGChild Health Research InstituteGainesvilleFloridaUnited States NCT03373968-84.3879833.749ENROLLING_BY_INVITATIONRECRUITINGMD Rare Disease Research, LLCAtlantaGeorgiaUnited States NCT03373968-91.5301741.66113ENROLLING_BY_INVITATIONRECRUITINGUniversity of Iowa Children's HospitalIowa CityIowaUnited States NCT03373968-90.1978938.62727COMPLETEDRECRUITINGWashington University School of Medicine in St Louis Department of Neurology 660 S.Euclid Avenue, Campus Box 8111St LouisMissouriUnited States NCT03373968-122.6762145.52345COMPLETEDRECRUITINGShriners Hospitals for ChildrenPortlandOregonUnited States NCT03373968-75.1636239.95238COMPLETEDRECRUITINGThe Children's Hospital of Philadelphia Colket Translational Research BuildingPhiladelphiaPennsylvaniaUnited States NCT03373968-77.4602637.55376COMPLETEDRECRUITINGVirginia Commonwealth University Childrens Hospital of Richmond atRichmondVirginiaUnited States NCT033739684.7009350.87959ENROLLING_BY_INVITATIONRECRUITINGUniversity Hospitals Leuven, Neuromuscular Reference Centre, Child NeurologyLeuvenBelgium NCT033739685.5674950.63373ENROLLING_BY_INVITATIONRECRUITINGHospital de La Citadelle, Centre de Référence des Maladies Neuromuscolaires (CRMN)LiègeBelgium NCT03373968-114.0852951.05011ENROLLING_BY_INVITATIONRECRUITINGKinsmen Research Centre - Alberta Children's HospitalCalgaryAlbertaCanada NCT03373968-123.1193449.24966ENROLLING_BY_INVITATIONRECRUITINGThe University of British Columbia, Children's and Womens Health Centre of BC BranchVancouverBritish ColumbiaCanada NCT03373968-79.3986443.70643ENROLLING_BY_INVITATIONRECRUITINGHolland Bloorview Kids Rehabilitation HospitalTorontoOntarioCanada NCT03373968-1.5533647.21725ENROLLING_BY_INVITATIONRECRUITINGCHU de Nantes - Hotel-Dieu - Hopital Nord Laennec, rez-de-chausse haut ail OuestNantesFrance NCT033739682.348848.85341ENROLLING_BY_INVITATIONRECRUITINGHôpital Armand Trousseau I-Motion - Plateforme d'essais cliniques pédiatriques Bâtiment Lemariey - Porte 20 * 2ème étage 26 Avenue du Dr Arnold NetteParisFrance NCT033739687.0122851.45657ENROLLING_BY_INVITATIONRECRUITINGUniversitätsklinikum Essen - Kinder-und Jugendmedizin NeuropadiatrieEssenGermany NCT033739689.9930253.55073ENROLLING_BY_INVITATIONRECRUITINGKlinik- und Poliklinik fur Kinder- und Jugendmedizin, Universitatsklinikum HamburgEppendorf, Martinistr. 52HamburgGermany NCT0337396813.3124351.60698ACTIVE_NOT_RECRUITINGRECRUITINGKlinikum der Universitat Munchen, Campus Innenstadt, Lindwurmstr. 4MünchenGermany NCT0337396834.8874732.08707ENROLLING_BY_INVITATIONRECRUITINGInstitute of Neurology - Schneider Children's Medical Center of Israel Kaplan, 14Petah TikvaIsrael NCT0337396811.8721145.21604RECRUITINGRECRUITINGU.O.S.D. Centro Traslazionale di Miologia e Patologie Neurodegenerative, Building 16 - ground floor IRCCS Istituto Giannina Gaslini,GenovaItalyName: Claudio Bruno, MD, Role: CONTACT, Phone: +39 010 56362 2620, Email: claudio2246@gmail.com Name: Claudio Bruno, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT0337396815.5525638.19394ENROLLING_BY_INVITATIONRECRUITINGA.O.U. Policlinico G. Martino, U.O.C. Neurologia e Malattie NeuromuscolariMessinaItaly NCT033739689.1895145.46427ACTIVE_NOT_RECRUITINGRECRUITINGFondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico di Milano, UOS di Neurologia PediatricaMilanItaly NCT0337396812.5983642.78235ENROLLING_BY_INVITATIONRECRUITINGIRCCS Istituto Neurologico Carlo BestaMilanItaly NCT0337396812.5983642.78235ENROLLING_BY_INVITATIONRECRUITINGCentro Clinico NeMO Fondazione Serena ONLUS Area SUDMilanItaly NCT0337396811.1064244.99364RECRUITINGRECRUITINGOspedale Pediatrico Bambino Gesù, Malattie Neuromuscolari e NeurodegenerativeRomaItalyName: Enrico Bertini, MD, Role: CONTACT, Phone: , Email: enricosilvio.bertini@opbg.net Name: Enrico Bertini, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT0337396811.1064244.99364ENROLLING_BY_INVITATIONRECRUITINGFondazione Policlinico Universitario "A.Gemelli", UOC Neuropsichiatria InfantileRomaItaly NCT033739684.4930652.15833ENROLLING_BY_INVITATIONRECRUITINGLeiden University Medical Center LUMC, Albinusdreef 2LeidenNetherlands NCT033739685.8527851.8425ENROLLING_BY_INVITATIONRECRUITINGRadboud University Medical CentreNijmegenNetherlands NCT0337396820.4651344.80401ENROLLING_BY_INVITATIONRECRUITINGClinic of Neurology and Psychiatry for Children and Youth - Neurology Department Dr. Subotic 6a,BelgradeSerbia NCT033739682.0880941.37732ENROLLING_BY_INVITATIONRECRUITINGNeuromuscular Pathology Unit - Hospital Sant Joan de DéuEsplugues de LlobregatBarcellonaSpain NCT033739682.1589941.38879RECRUITINGRECRUITINGHospital Materno-InfantilBarcelonaSpainName: Francina Munell, MD, Role: CONTACT, Phone: , Email: francina.munell@vhir.org Name: Francina Munell, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT03373968-5.9731737.38283ENROLLING_BY_INVITATIONRECRUITINGHospital Universitario Virgen del RocioSevilleSpain NCT03373968-0.3796639.47391ENROLLING_BY_INVITATIONRECRUITINGHospital Universitari i Politècnic La Fe - Servicio NeurologiaValenciaSpain NCT03373968-2.9779453.41058ENROLLING_BY_INVITATIONRECRUITINGAlder Hey Children's Hospital NHS TrustLiverpoolUKUnited Kingdom NCT03373968-3.0368652.89615ENROLLING_BY_INVITATIONRECRUITINGThe Robert Jones and Agnes Hunt Orthopaedic Hospital NHS Foundation TrustGobowenUnited Kingdom NCT03373968-0.1257451.50853ENROLLING_BY_INVITATIONRECRUITINGUCL Great Ormond Street Institute of Child Health, Dubowitz Neuromuscular Centre and MRC Centre for NMDLondonUnited Kingdom NCT03373968-1.6139654.97328ENROLLING_BY_INVITATIONRECRUITINGThe John Walton Muscular Dystrophy Research CentreNewcastle upon TyneUnited Kingdom NCT02310763-118.2436834.05223TERMINATEDRonald Reagan UCLA Medical CenterLos AngelesCaliforniaUnited States NCT02310763-118.2436834.05223TERMINATEDRonald Reagan UCLA PharmacyLos AngelesCaliforniaUnited States NCT02310763-118.2436834.05223TERMINATEDUCLA (David Geffen School of Medicine)Los AngelesCaliforniaUnited States NCT02310763-121.494438.58157TERMINATEDUniversity of California, Davis Medical CenterSacramentoCaliforniaUnited States NCT02310763-104.8319239.72943TERMINATEDChildren's Hospital ColoradoAuroraColoradoUnited States NCT02310763-82.4584327.94752TERMINATEDShriners Hospitals for Children - TampaTampaFloridaUnited States NCT02310763-87.6500541.85003TERMINATEDAnn & Robert H. Lurie Children's Hospital of ChicagoChicagoIllinoisUnited States NCT02310763-91.5301741.66113TERMINATEDUniversity of Iowa ICTSIowa CityIowaUnited States NCT02310763-94.631939.02223TERMINATEDKU Clinical Research Center, Clinical and Translational Science Unit(CTSU)FairwayKansasUnited States NCT02310763-94.631939.02223TERMINATEDUniversity of Kansas-Clinical Research Center, Investigational PharmacyFairwayKansasUnited States NCT02310763-94.6274639.11417TERMINATEDUniversity of Kansas Medical Center, Landon Center on AgingKansas CityKansasUnited States NCT02310763-94.6274639.11417TERMINATEDUniversity of Kansas Medical CenterKansas CityKansasUnited States NCT02310763-76.6121939.29038TERMINATEDKennedy Krieger Institute Out-patient centerBaltimoreMarylandUnited States NCT02310763-76.6121939.29038TERMINATEDKennedy Krieger InstituteBaltimoreMarylandUnited States NCT02310763-76.6121939.29038TERMINATEDJohns Hopkins HospitalBaltimoreMarylandUnited States NCT02310763-76.6121939.29038TERMINATEDJohns Hopkins Investigational Drug ServiceBaltimoreMarylandUnited States NCT02310763-71.0597742.35843TERMINATEDMassachusetts General HospitalBostonMassachusettsUnited States NCT02310763-93.2638444.97997TERMINATEDUniversity of Minnesota Masonic Children's HospitalMinneapolisMinnesotaUnited States NCT02310763-90.1978938.62727TERMINATEDSt Louis Children's HospitalSt LouisMissouriUnited States NCT02310763-78.8986235.99403TERMINATEDDuke University Medical Center,Lenox Baker Children's HospitalDurhamNorth CarolinaUnited States NCT02310763-78.8986235.99403TERMINATEDDuke University, Investigational Drug PharmacyDurhamNorth CarolinaUnited States NCT02310763-84.5143939.12711TERMINATEDCincinnati Children's Hospital Medical CenterCincinnatiOhioUnited States NCT02310763-75.1636239.95238TERMINATEDThe Children's Hospital of PhiladelphiaPhiladelphiaPennsylvaniaUnited States NCT02310763-79.9958940.44062TERMINATEDChildren's Hospital of Pittsburgh of UPMCPittsburghPennsylvaniaUnited States NCT02310763-111.8910540.76078TERMINATEDCenter for Clinical and Translational SciencesSalt Lake CityUtahUnited States NCT02310763-111.8910540.76078TERMINATEDUtah Center for Advanced Imaging and Research (UCAIR)Salt Lake CityUtahUnited States NCT02310763-111.8910540.76078TERMINATEDInvestigational Drug ServicesSalt Lake CityUtahUnited States NCT02310763-111.8910540.76078TERMINATEDUniversity of Utah, Department of NeurologySalt Lake CityUtahUnited States NCT02310763-111.8910540.76078TERMINATEDUniversity of Utah Medical CenterSalt Lake CityUtahUnited States NCT02310763-111.8910540.76078TERMINATEDUniversity of Utah School of MedicineSalt Lake CityUtahUnited States NCT02310763153.02049-27.48034TERMINATEDLady Cilento Children's HospitalSouth BrisbaneQueenslandAustralia NCT0231076323.3241542.69751TERMINATEDClinical Densitometry and Bone Metabolic Disease Department, General and Clinical Pathology ClinicSofiaBulgaria NCT0231076323.3241542.69751TERMINATEDHospital Pharmacy, UMHAT AlexandrovskaSofiaBulgaria NCT0231076323.3241542.69751TERMINATEDImaging Diagnostic Clinic,UMHAT AlexandrovskaSofiaBulgaria NCT0231076323.3241542.69751TERMINATEDNeurology Disease Clinic,UMHAT AlexandrovskaSofiaBulgaria NCT0231076323.3241542.69751TERMINATEDUMHAT Alexandrovska Cardiology Department,Internal Diseases Propaedeutic ClinicSofiaBulgaria NCT02310763-114.0852951.05011TERMINATEDAlberta Children's HospitalCalgaryAlbertaCanada NCT02310763-123.1193449.24966TERMINATEDUBC Children's and Women's Health Center of British ColumbiaVancouverBritish ColumbiaCanada NCT02310763-81.2330442.98339TERMINATEDChildren's Hospital- London Health Sciences CentreLondonOntarioCanada NCT02310763-73.5878145.50884TERMINATEDCHU Sainte-JustineMontrealQuebecCanada NCT0231076311.8721145.21604TERMINATEDUOC Farmacia-Istituto Gianna Gaslini, Istituto Pediatrico di Ricovero e Cura a Carattere ScientificoGenovaItaly NCT0231076311.8721145.21604TERMINATEDUOC Medicina Fisica RiabilitativaGenovaItaly NCT0231076311.8721145.21604TERMINATEDUOC Neurologia Pediatrica e Malattie MuscolariGenovaItaly NCT0231076311.8721145.21604TERMINATEDUOC Radiologia-Istituto Gianna. Gaslini, Istituto Pediatrico di Ricovero e Cura a CarattereGenovaItaly NCT0231076311.8721145.21604TERMINATEDUOS Dipartimentale Endocrinologia Clinica SperimentaleGenovaItaly NCT0231076312.5113341.89193TERMINATEDDipartimento Pediatrico Universitario-Ospedaliero EndocrinologiaRomeItaly NCT0231076312.5113341.89193TERMINATEDFarmacia Ospedaliera, IRCCS Ospedale Pediatrico Bambino Gesù, Padiglione Sant'OnofrioRomeItaly NCT0231076312.5113341.89193TERMINATEDMalattie Neuromuscolari e Neurodegenerative, IRCCS Ospedale Pediatrico Bambino GesùRomeItaly NCT0231076312.5113341.89193TERMINATEDOspedale Pediatrico Bambino Gesù - Centro Trial, DPUO - Padiglione SalviatiRomeItaly NCT0231076312.5113341.89193TERMINATEDU.O.C FarmaciaRomeItaly NCT0231076312.5113341.89193TERMINATEDU.O.C. Neuropsichiatria Infantile, Fondazione PoliclinicoRomeItaly NCT02310763144.4333343.36667TERMINATEDHyogo college of medicine hospitalHyōgoJapan NCT02310763139.6917135.6895TERMINATEDNational Center of Neurology and PsychiatryTokyoJapan NCT0231076321.0117852.22977TERMINATEDSamodzielny Publiczny Centralny Szpital Kliniczny w Warszawie Apteka Szpitalna Blok FWarsawPoland NCT0231076321.0117852.22977TERMINATEDSamodzielny Publiczny Centralny Szpital Kliniczny w Warszawie, I Katedra i Klinika KardiologiiWarsawPoland NCT0231076321.0117852.22977TERMINATEDSamodzielny Publiczny Centralny Szpital Kliniczny w Warszawie, II Zaklad Radiologii KlinicznejWarsawPoland NCT0231076321.0117852.22977TERMINATEDSamodzielny Publiczny Centralny Szpital Kliniczny w Warszawie, Klinika NeurologiiWarsawPoland NCT0231076321.0117852.22977TERMINATEDSamodzielny Publiczny Centralny Szpital Kliniczny w Warszawie, Laboratorium CentralneWarsawPoland NCT0231076321.0117852.22977TERMINATEDMTZ Clinical Research Sp.z o.o.WarsawPoland NCT02310763-2.9779453.41058TERMINATEDAlder Hey Children's NHS Foundation TrustLiverpoolUnited Kingdom NCT02310763-2.9779453.41058TERMINATEDAlder Hey Children's NHS Foundation TrustLiverpoolUnited Kingdom NCT02310763-0.1257451.50853TERMINATEDDubowitz Neuromuscular Centre Institute of Child HealthLondonUnited Kingdom NCT02310763-0.1257451.50853TERMINATEDGreat Ormond Street HospitalLondonUnited Kingdom NCT02310763-1.6139654.97328TERMINATEDInstitute of Genetic Medicine, Muscle TeamNewcastle upon TyneUnited Kingdom NCT02310763-1.6139654.97328TERMINATEDClinical Research FacilityNewcastle upon TyneUnited Kingdom NCT02310763-1.6139654.97328TERMINATEDRoyal Victoria Infirmary Research PharmacyNewcastle upon TyneUnited Kingdom NCT03703882-92.2895934.74648COMPLETEDArkansas Children's HospitalLittle RockArkansasUnited States NCT03703882-118.2436834.05223COMPLETEDChildren's Hospital of Los AngelesLos AngelesCaliforniaUnited States NCT03703882-121.494438.58157COMPLETEDUC DavisSacramentoCaliforniaUnited States NCT03703882-81.3792428.53834COMPLETEDNemours Children's HospitalOrlandoFloridaUnited States NCT03703882-84.3879833.749COMPLETEDRare Disease Research, LLCAtlantaGeorgiaUnited States NCT03703882-87.6500541.85003COMPLETEDRush University Children's HospitalChicagoIllinoisUnited States NCT03703882-91.5301741.66113COMPLETEDUniversity of Iowa Children's HospitalIowa CityIowaUnited States NCT03703882-94.631939.02223COMPLETEDUniversity of Kansas Medical CenterFairwayKansasUnited States NCT03703882-76.6121939.29038COMPLETEDKennedy Krieger InstituteBaltimoreMarylandUnited States NCT03703882-76.6121939.29038COMPLETEDJohns Hopkins School of MedicineBaltimoreMarylandUnited States NCT03703882-71.0597742.35843COMPLETEDBoston Children's HospitalBostonMassachusettsUnited States NCT03703882-83.7408842.27756COMPLETEDUniversity of MichiganAnn ArborMichiganUnited States NCT03703882-93.2638444.97997COMPLETEDUniversity of MinnesotaMinneapolisMinnesotaUnited States NCT03703882-115.1372236.17497COMPLETEDLas Vegas ClinicLas VegasNevadaUnited States NCT03703882-84.5143939.12711COMPLETEDCincinnati Children's HospitalCincinnatiOhioUnited States NCT03703882-81.6954141.4995COMPLETEDMetroHealth Medical CenterClevelandOhioUnited States NCT03703882-122.6762145.52345COMPLETEDShriners Hospitals for ChildrenPortlandOregonUnited States NCT03703882-75.1636239.95238COMPLETEDChildren's Hospital of PhiladelphiaPhiladelphiaPennsylvaniaUnited States NCT03703882-86.7844436.16589COMPLETEDVanderbilt University Medical CenterNashvilleTennesseeUnited States NCT03703882-97.3208532.72541COMPLETEDCook Children's Medical CenterFort WorthTexasUnited States NCT03703882-98.4936329.42412COMPLETEDUniversity of Texas Health Science Center at San AntonioSan AntonioTexasUnited States NCT03703882-111.8910540.76078COMPLETEDUniversity of UtahSalt Lake CityUtahUnited States NCT03703882-76.2852236.84681COMPLETEDChildren's Hospital of the King's DaughtersNorfolkVirginiaUnited States NCT03703882-77.4602637.55376COMPLETEDChildren's Hospital of Richmond at VCURichmondVirginiaUnited States NCT03703882150.98768-33.80383COMPLETEDThe Children's Hospital at WestmeadWestmeadNew South WalesAustralia NCT03703882153.02049-27.48034COMPLETEDChildren's Health Queensland Children's Hospital and Health ServiceSouth BrisbaneQueenslandAustralia NCT03703882144.95-37.78333COMPLETEDRoyal Children's HospitalParkvilleVictoriaAustralia NCT03703882-114.0852951.05011COMPLETEDAlberta Children's HospitalCalgaryAlbertaCanada NCT03703882-81.2330442.98339COMPLETEDLondon Health Sciences Centre - Children's HospitalLondonOntarioCanada NCT03703882-75.6981245.41117COMPLETEDChildren's Hospital of Eastern OntarioOttawaOntarioCanada NCT03703882-73.5878145.50884COMPLETEDCHU Sainte-JustineMontrealQuebecCanada NCT037038829.9930253.55073COMPLETEDUniversity of HamburgHamburgGermany NCT0370388211.5754948.13743COMPLETEDUniversity of MunichMunichGermany NCT03703882-6.2488953.33306COMPLETEDChildren's University HospitalDublinIreland NCT0370388235.2163331.76904COMPLETEDHadassah Medical CenterJerusalemIsrael NCT0370388211.9667957.70716COMPLETEDQueen Silvia Children's HospitalGothenburgSweden NCT03703882-2.5966551.45523COMPLETEDBristol Children's HospitalBristolUnited Kingdom NCT03703882-0.1257451.50853COMPLETEDEvelina Children's HospitalLondonUnited Kingdom NCT03703882-0.1257451.50853COMPLETEDGreat Ormond Street Hospital (GOSH)LondonUnited Kingdom NCT03703882-2.2374353.48095COMPLETEDRoyal Manchester Children's HospitalManchesterUnited Kingdom NCT04768062153.02809-27.46794UNKNOWNQueensland Children's HospitalBrisbaneAustralia NCT04768062150.98768-33.80383UNKNOWNThe Childrens Hospital at WestmeadWestmeadAustralia NCT04768062-71.2145446.81228UNKNOWNCHU de Quebec Research CentreQuébecCanada NCT04768062-70.64827-33.45694UNKNOWNHospital de Niños Roberto del RioSantiagoChile NCT04768062-70.64827-33.45694UNKNOWNPontificia Universidad Católica de ChileSantiagoChile NCT04768062116.3972339.9075UNKNOWNChinese PLA General HospitalBeijingChina NCT04768062112.9708728.19874UNKNOWNHunan Children's HospitalChangshaChina NCT04768062121.4580631.22222UNKNOWNChildren's Hospital of Fudan UniversityShanghaiChina NCT04768062114.068322.54554UNKNOWNShenzhen Children's HospitalShenzhenChina NCT0476806215.8538750.18185UNKNOWNFakultni nemocnice Hradec KraloveNový Hradec KrálovéCzechia NCT0476806223.7278437.98376UNKNOWNAgia Sofia Children's HospitalAthensGreece NCT0476806222.9349340.64072UNKNOWNHippokration General Hospital of ThessalonikiThessalonikiGreece NCT0476806212.5113341.89193UNKNOWNFondazione Policlinico Universitario A. Gemelli - Universita Cattolica del Sacro CuoreRomeItaly NCT04768062139.6917135.6895UNKNOWNNational Center of Neurology and PsychiatryTokyoJapan NCT04768062-99.1276619.42847UNKNOWNInstituto Nacional de PediatríaMexico CityMexico NCT047680624.4930652.15833UNKNOWNLeids Universitair Medisch CentrumLeidenNetherlands NCT047680625.8527851.8425UNKNOWNRadboud Universitair Medisch CentrumNijmegenNetherlands NCT04768062174.76349-36.84853UNKNOWNNew Zealand Clinical Research Ltd.AucklandNew Zealand NCT0476806210.7460959.91273UNKNOWNRikshospitaletOsloNorway NCT0476806237.6178155.75204UNKNOWNRussian National Research Medical UniversityMoscowRussia NCT0476806230.3141359.93863UNKNOWN"Saint Petersburg State Paediatric Medical University" based at Consultative and Diagnostic CentreSaint PetersburgRussia NCT0476806284.9821656.50049UNKNOWNTomsk National Research Medical Center of Russian Academy of SciencesTomskRussia NCT04768062128.0252435.70128UNKNOWNPusan National University Yangsan HospitalPusanSouth Korea NCT04768062126.978437.566UNKNOWNSeoul National University HospitalSeoulSouth Korea NCT047680622.1589941.38879UNKNOWNHospital Sant Joan de DeuBarcelonaSpain NCT04768062-3.7025640.4165UNKNOWNHospital Universitario La PazMadridSpain NCT0476806228.9496641.01384UNKNOWNYeditepe University Kosuyolu HospitalIstanbulTurkey (Türkiye) NCT04768062-1.8998352.48142UNKNOWNBirmingham Heartlands HospitalBirminghamUnited Kingdom NCT04768062-4.2576355.86515UNKNOWNRoyal Hospital for ChildrenGlasgowUnited Kingdom NCT04768062-4.2576355.86515UNKNOWNRoyal Manchester Children's HospitalGlasgowUnited Kingdom NCT04768062-0.1257451.50853UNKNOWNUniversity College London Institute of Child HealthLondonUnited Kingdom NCT03879304-4.4203436.72016COMPLETEDUniversidad de MálagaMálagaSpain NCT010373094.7009350.87959COMPLETEDUZ LeuvenLeuvenBelgium NCT0103730911.6205744.83804COMPLETEDS.Anna HospitalFerraraItaly NCT010373094.4930652.15833COMPLETEDLeiden University Medical CenterLeidenNetherlands NCT0103730911.9667957.70716COMPLETEDThe Queen Silvia Children's HospitalGothenburgSweden NCT061285645.5674950.63373ACTIVE_NOT_RECRUITINGChr de La CitadelleLiègeBelgium NCT061285642.348848.85341ACTIVE_NOT_RECRUITINGHôpital Necker-Enfants MaladesParisFrance NCT061285647.0122851.45657ACTIVE_NOT_RECRUITINGUniversitätsklinikum EssenEssenGermany NCT0612856412.5113341.89193ACTIVE_NOT_RECRUITINGPU A. Gemelli, Università Cattolica del Sacro CuoreRomeLazioItaly NCT06128564-0.1257451.50853ACTIVE_NOT_RECRUITINGGreat Ormond Street Hospital for ChildrenLondonUnited Kingdom NCT06128564-1.2559651.75222ACTIVE_NOT_RECRUITINGJohn Radcliffe HospitalOxfordUnited Kingdom NCT04433234139.6917135.6895ACTIVE_NOT_RECRUITINGNational Center of Neurology and PsychiatryTokyoKodaira-ShiJapan NCT04433234144.4333343.36667ACTIVE_NOT_RECRUITINGKobe University HospitalHyōgoJapan NCT014780229.1895145.46427COMPLETEDClinical Phase 1 Unit - Luigi Sacco HospitalMilanItaly NCT03057002-96.8066732.78306COMPLETEDUT Southwestern Medical Center - Advanced Imaging Research CenterDallasTexasUnited States NCT0610910332.8542739.91987UNKNOWNHacettepe UniversityAnkaraTurkey (Türkiye)Name: Merve Bora zereyak, PT, Role: CONTACT, Phone: 05058625335, Email: mervebora95@gmail.com NCT03917719-121.494438.58157TERMINATEDUC DavisSacramentoCaliforniaUnited States NCT03917719-84.3879833.749TERMINATEDRare Disease Research, LLCAtlantaGeorgiaUnited States NCT03917719-91.5301741.66113TERMINATEDUniversity of Iowa Children's HospitalIowa CityIowaUnited States NCT03917719-94.631939.02223TERMINATEDUniversity of Kansas Medical CenterFairwayKansasUnited States NCT03917719-76.6121939.29038TERMINATEDKennedy Krieger InstituteBaltimoreMarylandUnited States NCT03917719-76.6121939.29038TERMINATEDJohns Hopkins School of MedicineBaltimoreMarylandUnited States NCT03917719-71.0597742.35843TERMINATEDBoston Children's HospitalBostonMassachusettsUnited States NCT03917719-83.7408842.27756TERMINATEDUniversity of MichiganAnn ArborMichiganUnited States NCT03917719-115.1372236.17497TERMINATEDLas Vegas ClinicLas VegasNevadaUnited States NCT03917719-122.6762145.52345TERMINATEDShriners Hospital for ChildrenPortlandOregonUnited States NCT03917719-75.1636239.95238TERMINATEDChildren's Hospital of PhiladelphiaPhiladelphiaPennsylvaniaUnited States NCT03917719-86.7844436.16589TERMINATEDVanderbilt University Medical CenterNashvilleTennesseeUnited States NCT03917719-97.3208532.72541TERMINATEDCook Children's Medical CenterFort WorthTexasUnited States NCT03917719-98.4936329.42412TERMINATEDUniversity of Texas Health Science Center at San AntonioSan AntonioTexasUnited States NCT03917719-111.8910540.76078TERMINATEDUniversity of UtahSalt Lake CityUtahUnited States NCT03917719144.95-37.78333TERMINATEDRoyal Children's HospitalParkvilleVictoriaAustralia NCT03917719-75.6981245.41117TERMINATEDChildren's Hospital of Eastern OntarioOttawaOntarioCanada NCT039177199.9930253.55073TERMINATEDUniversity of HamburgHamburgGermany NCT0391771911.5754948.13743TERMINATEDUniversity of MunichMunichGermany NCT0391771911.9667957.70716TERMINATEDQueen Silvia Children's HospitalGothenburgSweden NCT03917719-2.5966551.45523TERMINATEDBristol Children's HospitalBristolUnited Kingdom NCT03917719-0.1257451.50853TERMINATEDGreat Ormond Street Hospital (GOSH)LondonUnited Kingdom NCT03917719-2.2374353.48095TERMINATEDRoyal Manchester Children's HospitalManchesterUnited Kingdom NCT0493480016.5232747.84565COMPLETEDKH der Barmherzige Brüder Eisenstadt - NeurologyEisenstadtAustria NCT0493480014.3602846.76806COMPLETEDDr. Reinhard Krendl-HeadSankt Veit an der GlanAustria NCT0493480016.3720848.20849COMPLETEDKlinik FlorisdorfViennaAustria NCT0493480025.8764440.84995COMPLETEDUniversity of Thrace, Medical School - Neurology DepartmentAlexandroupoliGreece NCT0493480023.7278437.98376COMPLETED251 General Air Force HospitalAthensGreece NCT0493480023.7278437.98376COMPLETED417 NIMITS HospitalAthensGreece NCT0493480023.7278437.98376COMPLETEDAeginiteion Hospital, University of Athens - A' Neurology DepartmentAthensGreece NCT0493480023.7278437.98376COMPLETEDAttikon University HospitalAthensGreece NCT0493480023.7278437.98376COMPLETEDEvangelismos Hospital - Neurology DepartmentAthensGreece NCT0493480023.7278437.98376COMPLETEDGenaral Hospital of Elefsina "Thriasio"AthensGreece NCT0493480023.7278437.98376COMPLETEDGeneral Hospital of Athens "Evangelismos"AthensGreece NCT0493480020.8518739.66341COMPLETEDUniversity of Ioannina - Neurology Department, IoanninaIoanninaGreece NCT0493480022.4211239.62847COMPLETEDUniversity General Hospital of Larissa - Rheumatology ClinicLarissaGreece NCT0493480023.7010537.92812COMPLETEDIatriko Palaioy Faliroy, Medical Center - Neurology DepartmentPalaió FáliroGreece NCT0493480021.7350838.2462COMPLETEDGeneral Hospital of Patra "Agios Andreas"PátraiGreece NCT0493480021.7350838.2462COMPLETEDUniversity General Hospital of PatraPátraiGreece NCT0493480022.9349340.64072COMPLETEDAHEPA General Hospital of ThessalonikiThessalonikiGreece NCT0493480022.9349340.64072COMPLETEDGeneral Hospital of Thessaloniki "G. Papanikolaou"ThessalonikiGreece NCT0493480022.9349340.64072COMPLETEDInterbalkan Hospital of ThessalonikiThessalonikiGreece NCT0493480022.9349340.64072COMPLETEDPapageorgiou General Hospital ThessalonikiThessalonikiGreece NCT0493480022.9349340.64072COMPLETEDSt Luke's HospitalThessalonikiGreece NCT049348009.6672145.69601COMPLETEDAzienda Socio Sanitaria Territoriale Papa Giovanni XXIII (Presidio Papa Giovanni XXIII) - Dipartimento di NeurologiaBergamoItaly NCT0493480014.0228538.03856COMPLETEDFondazione Istituto G.Giglio di Cefalù - Neurologia-Centro Sclerosi MultiplaCefalùItaly NCT0493480014.1649442.34827COMPLETEDUniversità degli Studi G. D'AnnunzioChietiItaly NCT0493480011.706944.80583COMPLETEDAzienda Ospedaliera Universitaria Arcispedale Sant'Anna - NeurologiaConaItaly NCT0493480015.5518841.45845COMPLETEDOspedali Riuniti di Foggia - NeurologyFoggiaItaly NCT049348008.7916445.66019COMPLETEDAzienda Socio Sanitaria Territoriale della Valle Olona (presidio di Gallarate) - Neurologia 2 - Sclerosi MultiplaGallarateItaly NCT0493480010.5044743.84369COMPLETEDOspedale San Luca - S.C.OncologiaLuccaItaly NCT0493480013.3995442.35055COMPLETEDASL 1 Avezzano L'Aquila Sulmona- Ospedale Regionale San Salvatore - Dipartimento di NeurologiaL’AquilaItaly NCT0493480015.5525638.19394COMPLETEDIRCCS Centro Neurolesi Bonino Pulejo - U.O. di Neurofisipatologia ed AmbulatoriMessinaItaly NCT0493480014.2681140.85216COMPLETEDAzienda Ospedaliera di Rilievo Nazionale A. Cardarelli - U.O.S. Malattie Degenerative del S.N.C.NaplesItaly NCT049348008.6211845.44694COMPLETEDOspedale Maggiore della carità - NovaraNovaraItaly NCT049348007.5381345.00547COMPLETEDCentro di Riferimento Regionale per la Sclerosi Multipla (CRESM) - SCDO NeurologiaOrbassanoItaly NCT0493480013.363638.1166COMPLETEDAzienda Ospedaliero Universitaria Policlinico Paolo Giaccone - Dipartimento di NeuroscienzePalermoItaly NCT0493480012.3887843.1122COMPLETEDAzienda Ospedaliera di Udine Ospedale S. Maria della Misericordia - UO NeurologiaPerugiaItaly NCT0493480015.6612938.11047COMPLETEDGrande Ospedale Metropolitano "Bianchi Melacrino Morelli - Centro Regionale EpilessiaReggio CalabriaItaly NCT0493480011.1064244.99364COMPLETEDAzienda Ospedaliera San Filippo Neri - NeurologiaRomaItaly NCT0493480011.1064244.99364COMPLETEDAzienda Ospedaliera Universitaria Policlinico Umberto I - Università di Roma La Sapienza - Dip. di Neurologia e Psichiatria (servizio EMG)RomaItaly NCT0493480014.7932840.67545COMPLETEDA. O. U. San Giovanni Di Dio e Ruggi D'Aragona - Struttura Complessa di OculisticaSalernoItaly NCT0493480010.993845.43854COMPLETEDAzienda Ospedaliera Universitaria Integrata Verona (Ospedale Borgo Roma) - D.U.NeurologiaVeronaItaly NCT0493480010.2044959.74389COMPLETEDVestre Viken HF Drammen Sykehus - former Sykehuset BuskerudDrammenNorway NCT0493480011.4957264.46624COMPLETEDSykehuset NamsosNamsosNorway NCT0493480010.7460959.91273COMPLETEDOslo Universitetssykehus HF - UllevålOsloNorway NCT0493480023.1643353.13333COMPLETEDUniwersytecki Szpital Kliniczny w Bialymstoku - Dept of NeurologyBialystokPoland NCT0493480019.9365850.06143COMPLETEDSzpital Specjalistyczny im. L.Rydygiera w Krakowie - Neurology DepartmentKrakowPoland NCT0493480019.9365850.06143COMPLETEDSzpital Uniwersytecki w Krakowie - Uniwersytet Jagiellonski Collegium MedicumKrakowPoland NCT0493480016.9299352.40692COMPLETEDSzpital Kliniczny im.Heliodora Swiecickiego Uniwersytetu Medycznego im.K. Marcinkowskiego w Poznaniu - Dept of NeurologyPoznanPoland NCT0493480014.5530253.42894COMPLETEDPomorski Uniwersytet Medyczny - Klinika NeurologiiSzczecinPoland NCT0493480021.0117852.22977COMPLETEDWojskowy Instytut Medyczny - Klinika NeurologicznaWarsawPoland NCT0493480018.7006250.04523COMPLETEDSPZOZ Wojewodzki Szpital Specjalistyczny nr 3 w RybnikuŻoryPoland NCT04934800-9.149838.72509COMPLETEDCentro Hospitalar de Lisboa Ocidental, E.P.E. - Hospital de Egas Moniz - Serviço de NeurologiaLisbonPortugal NCT04934800-8.6890841.18207COMPLETEDUnidade Local de Saúde de Matosinhos, EPE (Hospital Pedro Hispano) - Serviço de NeurologiaMatosinhos MunicipalityPortugal NCT04934800-8.6109741.1485COMPLETEDCentro Hospitalar de São João, E.P.E. - Serviço de NeurologiaPortoPortugal NCT04934800-9.1698138.67459COMPLETEDHospital Garcia de Orta, EPE - Serviço de NeurologiaPragalPortugal NCT04934800-8.888238.5244COMPLETEDCentro Hospitalar de Setubal, EPE - Hospital São BernardoSetúbalPortugal NCT049348007.4474446.94809COMPLETEDInselspital - Universitaetsspital Bern - Neuropsychologische Rehabilitation, NeurologieBernSwitzerland NCT049348006.6328246.516COMPLETED(CHUV), Centre Hospitalier Universitaire Vaudois - Departement des Neurosciences CliniquesLausanneSwitzerland NCT049348008.3063547.05048COMPLETEDLuzerner Kantonsspital - Zentrum fuer Neurologie und NeurorehabilitationLucerneSwitzerland NCT049348008.9600446.01008COMPLETEDOspedale Regionale di Lugano - NeurologiaLuganoSwitzerland NCT049348007.3555946.22739COMPLETEDHôpital Régional Sion-Hérens-Conthey - NeurologieSionSwitzerland NCT05412394-87.6500541.85003RECRUITINGRECRUITINGLurie Children's Hospital of ChicagoChicagoIllinoisUnited States NCT05412394-84.5143939.12711RECRUITINGRECRUITINGUniversity of CincinnatiCincinnatiOhioUnited States NCT05412394-82.9987939.96118RECRUITINGRECRUITINGNationwide Children's HospitalColumbusOhioUnited StatesName: Kevin Warf, BS, Role: CONTACT, Phone: (614) 355-2765, Email: kevin.warf@nationwidechildrens.org Name: Anne Connolly, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT05412394-96.8066732.78306RECRUITINGRECRUITINGUniversity of Texas SouthwesternDallasTexasUnited StatesName: Shahera Ranjha, MS, Role: CONTACT, Phone: 214-456-5959, Email: shahera.ranjha@utsouthwestern.edu NCT05514249-71.8022942.26259UNKNOWNUMass Chan Medical SchoolWorcesterMassachusettsUnited States NCT02246478139.6917135.6895COMPLETEDNational Center of Neurology and PsychiatryTokyoJapan NCT05016908-71.0597742.35843ACTIVE_NOT_RECRUITINGRECRUITINGBoston Children's HospitalBostonMassachusettsUnited States NCT05016908-71.0597742.35843RECRUITINGRECRUITINGMassachusetts General HospitalBostonMassachusettsUnited StatesName: Tamkin Shahraki, MD, Role: CONTACT, Phone: 617-726-7506, Email: tshahraki@mgh.harvard.edu Name: Thurman M. Wheeler, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT013859172.348848.85341RECRUITINGUNKNOWNMyology InstituteParisFranceName: Laurent Servais, MD, Role: CONTACT, Phone: 01 42 16 66 47, Email: l.servais@institut-myologie.org Name: Laurent SERVAIS, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT01385917-0.1257451.50853RECRUITINGUNKNOWNGreat ormond Street Hospital & University College London HospitalLondonUnited KingdomName: Francesco Muntoni, Pr, HD, Role: CONTACT, Phone: +44 1 02079052111, Email: f.muntoni@ich.ucl.ac.uk NCT02472990-4.4862848.39029RECRUITINGUNKNOWNCHRUBrestBrittannyFranceName: Sylvain Brochard, Dr, Role: CONTACT, Phone: 02 98 22 31 52, Email: sylvain.brochard@chu-brest.fr Name: Sylvain Brochard, Dr, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: Name: Sylviane Peudenier, Dr, Role: SUB_INVESTIGATOR, Phone: , Email: Name: Juliette Ropars, Dr, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT024729903.0551250.63391NOT_YET_RECRUITINGUNKNOWNCHRULilleNorthFranceName: Jean-Marie CUISSET, Dr, Role: CONTACT, Phone: , Email: Name: Jean-Marie CUISSET, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT02472990-0.5520247.47156NOT_YET_RECRUITINGUNKNOWNCHRUAngersFranceName: Julien DURIGNEUX, Dr, Role: CONTACT, Phone: , Email: Name: Julien DURIGNEUX, Dr, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT024729900.2025148.0021NOT_YET_RECRUITINGUNKNOWNCH Le MansLe MansFranceName: Denis Colin, Dr, Role: CONTACT, Phone: 02 43 51 72 67, Email: Name: Denis Colin, Dr, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT024729904.8478945.74906RECRUITINGUNKNOWNCHULyonFranceName: Carole Vuillerot, Dr, Role: CONTACT, Phone: 07 89 22 02 92, Email: carole.vuillerot@gmail.com Name: Carole Vuillerot, Dr, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: Name: Stéphanie Fontaine, Dr, Role: SUB_INVESTIGATOR, Phone: , Email: NCT02472990-1.5533647.21725RECRUITINGUNKNOWNCHU de NantesNantesFranceName: Yann PEREON, Role: CONTACT, Phone: 02 40 08 36 17, Email: Name: Yann PEREON, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: Name: Raphaël GROSS, Role: SUB_INVESTIGATOR, Phone: , Email: NCT024729900.3434846.58261NOT_YET_RECRUITINGUNKNOWNCHUPoitiersFranceName: Karoline LODE-KOLZ, Dr, Role: CONTACT, Phone: 05 49 44 44 44, Email: Name: Karoline LODE-KOLZ, Dr, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT02472990-1.6743148.11109NOT_YET_RECRUITINGUNKNOWNCHURennesFranceName: Hélène Rauscent, Dr, Role: CONTACT, Phone: , Email: Name: Hélène Rauscent, Dr, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT024729900.7039847.39484NOT_YET_RECRUITINGUNKNOWNCHRUToursFranceName: Emmanuelle Lagrue, Dr, Role: CONTACT, Phone: , Email: Name: Emmanuelle Lagrue, Dr, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT02472990-2.7620547.65688NOT_YET_RECRUITINGUNKNOWNCHBAVannesFranceName: Hubert Journel, Dr, Role: CONTACT, Phone: , Email: Name: Hubert Journel, Dr, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT0243672012.5113341.89193UNKNOWNCatholic UniversityRomeItaly NCT06066580-92.2895934.74648ENROLLING_BY_INVITATIONArkansas Children's HospitalLittle RockArkansasUnited States NCT06066580-117.274232.84727ENROLLING_BY_INVITATIONUC San DiegoLa JollaCaliforniaUnited States NCT06066580-118.2436834.05223ENROLLING_BY_INVITATIONUCLA Medical CenterLos AngelesCaliforniaUnited States NCT06066580-117.8531133.78779ENROLLING_BY_INVITATIONUC Irvine Medical CenterOrangeCaliforniaUnited States NCT06066580-122.1430237.44188ENROLLING_BY_INVITATIONStanford Neuroscience Health CenterPalo AltoCaliforniaUnited States NCT06066580-121.494438.58157ENROLLING_BY_INVITATIONUC Davis Medical CenterSacramentoCaliforniaUnited States NCT06066580-104.8319239.72943ENROLLING_BY_INVITATIONUC DenverAuroraColoradoUnited States NCT06066580-82.3248329.65163ENROLLING_BY_INVITATIONUniversity of FloridaGainesvilleFloridaUnited States NCT06066580-84.3879833.749ENROLLING_BY_INVITATIONRare Disease ResearchAtlantaGeorgiaUnited States NCT06066580-87.6500541.85003ENROLLING_BY_INVITATIONNorthwestern UniversityChicagoIllinoisUnited States NCT06066580-86.1580439.76838ENROLLING_BY_INVITATIONIndiana University School of MedicineIndianapolisIndianaUnited States NCT06066580-91.5301741.66113ENROLLING_BY_INVITATIONUniversity of IowaIowa CityIowaUnited States NCT06066580-94.6274639.11417ENROLLING_BY_INVITATIONUniversity of Kansas Medical CenterKansas CityKansasUnited States NCT06066580-76.6121939.29038ENROLLING_BY_INVITATIONKennedy Krieger InstituteBaltimoreMarylandUnited States NCT06066580-71.8022942.26259ENROLLING_BY_INVITATIONUniversity of Massachusetts Memorial Medical CenterWorcesterMassachusettsUnited States NCT06066580-90.1978938.62727ENROLLING_BY_INVITATIONWashington University School of MedicineSt LouisMissouriUnited States NCT06066580-77.6155643.15478ENROLLING_BY_INVITATIONUniversity of Rochester Medical CenterRochesterNew YorkUnited States NCT06066580-79.0997336.07542ENROLLING_BY_INVITATIONRare Disease Research, LLC NCHillsboroughNorth CarolinaUnited States NCT06066580-84.5143939.12711ENROLLING_BY_INVITATIONUniversity of Cincinnati Gardner Neuroscience InstituteCincinnatiOhioUnited States NCT06066580-82.9987939.96118ENROLLING_BY_INVITATIONNationwide Children's HospitalColumbusOhioUnited States NCT06066580-75.1636239.95238ENROLLING_BY_INVITATIONUniversity of PennsylvaniaPhiladelphiaPennsylvaniaUnited States NCT06066580-97.7430630.26715ENROLLING_BY_INVITATIONNational Neuromuscular Research InstituteAustinTexasUnited States NCT06066580-97.1330733.21484ENROLLING_BY_INVITATIONNeurology Rare Disease CenterDentonTexasUnited States NCT06066580-77.4602637.55376ENROLLING_BY_INVITATIONVirginia Commonwealth University HealthRichmondVirginiaUnited States NCT060665803.7166751.05ENROLLING_BY_INVITATIONUniversity Hospital GentGhentBelgiumBelgium NCT060665804.7009350.87959ENROLLING_BY_INVITATIONUniversitaire Ziekenhuizen LeuvenLeuvenBelgiumBelgium NCT0606658012.5655355.67594ENROLLING_BY_INVITATIONRigshospitaletCopenhagenDenmark NCT060665805.3810743.29695ENROLLING_BY_INVITATIONCentre de Reference des Maladies Neuromusculaires et de la SLA - AP-HM Hopital de La TimoneMarseilleFranceFrance NCT06066580-1.5533647.21725ENROLLING_BY_INVITATIONCHU de NantesNantesFranceFrance NCT060665807.2660843.70313ENROLLING_BY_INVITATIONCHU de Nice - Hopital Pasteur 2 - Centre de reference des Maladies NeuromusculairesNiceFranceFrance NCT060665802.348848.85341ENROLLING_BY_INVITATIONAP-HP Hopital Pitie-SalpetriereParisFranceFrance NCT0606658011.5754948.13743ENROLLING_BY_INVITATIONKlinikum der Ludwig-Maximilians-Universitaet MuenchenMunichGermanyGermany NCT0606658035.2163331.76904ENROLLING_BY_INVITATIONHadassah University HospitalJerusalemIsrael NCT060665809.1895145.46427ENROLLING_BY_INVITATIONFondazione IRCCS Ca'Granda Ospedale MaggioreMilanItalyItaly NCT0606658011.1426144.38225ENROLLING_BY_INVITATIONAzienda Ospedale - Università PadovaPadovaItalyItaly NCT0606658012.5113341.89193ENROLLING_BY_INVITATIONFondazione Policlinico Universitario A. Gemelli IRCCS - Universita Cattolica del Sacro CuoreRomeItalyItaly NCT060665804.4930652.15833ENROLLING_BY_INVITATIONLeids Universitair Medisch CentrumLeidenNetherlands NCT060665802.1589941.38879ENROLLING_BY_INVITATIONHospital Universitario Vall d'HebronBarcelonaSpainSpain NCT060665802.1589941.38879ENROLLING_BY_INVITATIONHospital Universitario de BellvitgeBarcelonaSpainSpain NCT06066580-1.9749943.31283ENROLLING_BY_INVITATIONHospital Universitario DonostiaDonostia / San SebastianSpainSpain NCT06066580-0.3796639.47391ENROLLING_BY_INVITATIONHospital Universitari i Politecnic La FeValenciaSpainSpain NCT06066580-2.2904253.48771ENROLLING_BY_INVITATIONSalford Royal HospitalSalfordUnited KingdomUnited Kingdom NCT06066580-0.1257451.50853ENROLLING_BY_INVITATIONUniversity College London HospitalLondonUnited Kingdom NCT06066580-0.1257451.50853ENROLLING_BY_INVITATIONSt. George's University Hospitals NHS Foundation TrustLondonUnited Kingdom NCT06066580-5.8897954.21804ENROLLING_BY_INVITATIONNewcastle Freeman HospitalNewcastleUnited Kingdom NCT01359670-118.2436834.05223COMPLETEDCedars-Sinai Medical CenterLos AngelesCaliforniaUnited States NCT00873782-79.0558435.9132COMPLETEDUniversity of North Carolina at Chapel HillChapel HillNorth CarolinaUnited States NCT06392724116.3972339.9075ACTIVE_NOT_RECRUITINGPeking Union Medical College HospitalBeijingChina NCT00451074-111.8990333.50921COMPLETEDNeuromuscular Research Institute - Scottsdale Healthcare Hopsital at SheaScottsdaleArizonaUnited States NCT00451074-94.6274639.11417COMPLETEDUniversity of KansasKansas CityKansasUnited States NCT00451074-82.9987939.96118COMPLETEDThe Research Institute at Nationwide Children's HospitalColumbusOhioUnited States NCT01099761-114.0852951.05011TERMINATEDAcceleron Investigative SiteCalgaryAlbertaCanada NCT01099761-123.1193449.24966TERMINATEDAcceleron Investigative SiteVancouverBritish ColumbiaCanada NCT01099761-79.8496343.25011TERMINATEDAcceleron Investigative SiteHamiltonOntarioCanada NCT01099761-81.2330442.98339TERMINATEDAcceleron Investigative SiteLondonOntarioCanada NCT01099761-75.6981245.41117TERMINATEDAcceleron Investigative SiteOttawaOntarioCanada NCT00033189-77.0363738.89511COMPLETEDChildren's National Medical CenterWashington D.C.District of ColumbiaUnited States NCT00033189-90.1978938.62727COMPLETEDWashington University-St. LouisSt LouisMissouriUnited States NCT0743511637.382537.05944ENROLLING_BY_INVITATIONSanko UnıversıtyGaziantepGaziantepTurkey (Türkiye) NCT04585464-98.4936329.42412COMPLETEDWorldwide Clinical TrialsSan AntonioTexasUnited States NCT02235844-97.3375437.69224COMPLETEDAsthma and Allergy ConsultantsWichitaKansasUnited States NCT06839469-122.1430237.44188RECRUITINGRECRUITINGStanford UniversityPalo AltoCaliforniaUnited StatesName: Sally Dunaway Young, PT, DPT, Role: CONTACT, Phone: 650-497-0075, Email: sdy@stanford.edu Name: Constance De Monts, PT, DPT, Role: CONTACT, Phone: 6502502292, Email: cdemonts@stanford.edu Name: John W Day, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: Name: Sally Dunaway Young, PT, DPT, Role: SUB_INVESTIGATOR, Phone: , Email: NCT06839469-71.0597742.35843RECRUITINGRECRUITINGBoston Children's HospitalBostonMassachusettsUnited StatesName: Amy Pasternak, PT, DPT, Role: CONTACT, Phone: 617-355-7212, Email: amy.pasternak@childrens.harvard.edu Name: Maria Fragala Pinkham, PT, DPT, DSc, Role: CONTACT, Phone: 6173557212, Email: maria.pinkham@childrens.harvard.edu Name: Amy Pasternak, PT, DPT, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: Name: Maria F Fragala Pinkham, PT, DPT, Dsc, Role: SUB_INVESTIGATOR, Phone: , Email: NCT06839469-74.0059740.71427RECRUITINGRECRUITINGColumbia University Irving Medical CenterNew YorkNew YorkUnited StatesName: Jacqueline Montes, Role: CONTACT, Phone: 212-305-8916, Email: jm598@cumc.columbia.edu Name: Cara Kanner, DPT, Role: CONTACT, Phone: 516-581-8150, Email: chy2112@cumc.columbia.edu NCT07317063-74.1723740.73566COMPLETEDBiotrial, IncNewarkNew JerseyUnited States NCT00390104-71.0597742.35843RECRUITINGRECRUITINGBoston Children's HospitalBostonMassachusettsUnited StatesName: Elicia A Estrella, MS, LCGC, Role: CONTACT, Phone: 617-919-4552, Email: elicia.estrella@childrens.harvard.edu Name: Casie Genetti, MS, LCGC, Role: CONTACT, Phone: 617-919-2169, Email: Casie.Genetti@childrens.harvard.edu Name: Louis M Kunkel, PhD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT01610440102.7183325.03889RECRUITINGUNKNOWNThe Second Affiliated Hospital of Kunming Medical CollegeKunmingYunnanChinaName: Liqing Yao, Role: CONTACT, Phone: , Email: yaoliqing98731@yahoo.com.cn Name: Liqing Yao, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT068334895.3810743.29695RECRUITINGRECRUITINGHopital TimoneMarseilleFranceName: Svetlana GOROKHOVA Dr, Role: CONTACT, Phone: +33491381927, Email: promotion.interne@ap-hm.fr NCT062419502.1589941.38879TERMINATEDHospital Sant Joan de DéuBarcelonaSpain NCT0641232832.8542739.91987ENROLLING_BY_INVITATIONLokman Hekim UniversiytAnkaraCankayaTurkey (Türkiye) NCT02500381-112.0740433.44838COMPLETEDNeuromuscular Research CenterPhoenixArizonaUnited States NCT02500381-118.2436834.05223COMPLETEDChildren's Hospital Los AngelesLos AngelesCaliforniaUnited States NCT02500381-118.2436834.05223COMPLETEDDavid Geffen School of Medicine, UCLALos AngelesCaliforniaUnited States NCT02500381-117.1647232.71571COMPLETEDRady Children's Hospital San Diego/ UCSDSan DiegoCaliforniaUnited States NCT02500381-122.1660837.42411COMPLETEDStanford University School of Medicine/Medical CenterStanfordCaliforniaUnited States NCT02500381-82.3248329.65163COMPLETEDUniversity of FloridaGainesvilleFloridaUnited States NCT02500381-87.1638630.35714COMPLETEDNW Florida Clinical Research Group, LLCGulf BreezeFloridaUnited States NCT02500381-84.3879833.749COMPLETEDCenter for Integrative Rare Disease Research (CIRDR)AtlantaGeorgiaUnited States NCT02500381-87.6500541.85003COMPLETEDAnn and Robert H. Lurie Children's Hospital of ChicagoChicagoIllinoisUnited States NCT02500381-91.5301741.66113COMPLETEDUniversity of Iowa Children's HospitalIowa CityIowaUnited States NCT02500381-94.6274639.11417COMPLETEDUniversity of Kansas, Medical CenterKansas CityKansasUnited States NCT02500381-71.0597742.35843COMPLETEDBoston Children's HospitalBostonMassachusettsUnited States NCT02500381-90.1978938.62727COMPLETEDSt. Louis Children's HospitalSt LouisMissouriUnited States NCT02500381-115.1372236.17497COMPLETEDLas Vegas ClinicLas VegasNevadaUnited States NCT02500381-77.6155643.15478COMPLETEDUniversity of Rochester Clinical Research CenterRochesterNew YorkUnited States NCT02500381-84.5143939.12711COMPLETEDCincinnati Children's Hospital Medical Center (CCHMC)CincinnatiOhioUnited States NCT02500381-82.9987939.96118COMPLETEDNationwide Children's HospitalColumbusOhioUnited States NCT02500381-122.6762145.52345COMPLETEDShriners Hospital for ChildrenPortlandOregonUnited States NCT02500381-79.9958940.44062COMPLETEDChildren's Hospital of Pittsburgh of UPMCPittsburghPennsylvaniaUnited States NCT02500381-96.8066732.78306COMPLETEDChildren's Medical Center DallasDallasTexasUnited States NCT02500381-111.8910540.76078COMPLETEDUniversity of UtahSalt Lake CityUtahUnited States NCT02500381-76.2852236.84681COMPLETEDChildren's Hospital of the King's DaughtersNorfolkVirginiaUnited States NCT02500381-87.9064743.0389COMPLETEDChildren's Hospital of WisconsinMilwaukeeWisconsinUnited States NCT02500381-58.37723-34.61315COMPLETEDDOM Centro de ReumatologiaBuenos AiresArgentina NCT02500381144.95-37.78333COMPLETEDRoyal Children's Hospital MelbourneParkvilleVictoriaAustralia NCT02500381153.02049-27.48034COMPLETEDQueensland Children's HospitalSouth BrisbaneAustralia NCT02500381150.98768-33.80383COMPLETEDChildren's Hospital at WestmeadWestmeadAustralia NCT025003813.7166751.05COMPLETEDUniversitair Ziekenhuis GentGhentBelgium NCT025003814.7009350.87959COMPLETEDUniversitair Ziekenhuis LeuvenLeuvenBelgium NCT025003815.5674950.63373COMPLETEDCHR de la CitadelleLiègeBelgium NCT0250038123.3241542.69751COMPLETEDUniversity Multiprofile Hospital for Active Treatment Aleksandrovska EADSofiaSofia-GradBulgaria NCT02500381-114.0852951.05011COMPLETEDAlberta Childrens HospitalCalgaryAlbertaCanada NCT02500381-123.1193449.24966COMPLETEDChildren's and Women's Health Centre of British ColumbiaVancouverBritish ColumbiaCanada NCT02500381-81.2330442.98339COMPLETEDLondon Health Sciences CentreLondonOntarioCanada NCT02500381-75.6981245.41117COMPLETEDChildren's Hospital of Eastern OntarioOttawaOntarioCanada NCT0250038116.6079649.19522COMPLETEDUniversity Hospital BrnoBrnoCzechia NCT0250038114.4207650.08804COMPLETEDFakultni nemocnice v MotolePragueCzechia NCT0250038112.5686255.70968COMPLETEDRigshospitalet Copenhagen University HospitalKøbenhavn ØDenmark NCT025003811.4436743.60426COMPLETEDHôpital Des EnfantsToulouseHaute-GaronneFrance NCT02500381-1.5533647.21725COMPLETEDReference Centre for Neuromuscular DiseasesNantesFrance NCT025003812.348848.85341COMPLETEDHôpital Armand TrousseauParisFrance NCT0250038113.4631448.69668COMPLETEDLMU Klinikum der UniversitätMünchenBavariaGermany NCT0250038113.4105352.52437COMPLETEDCharité - Universitätsmedizin BerlinBerlinGermany NCT025003817.0122851.45657COMPLETEDUniversitätsklinikum EssenEssenGermany NCT025003817.8522247.9959COMPLETEDUniversity Hospital FreiburgFreiburg im BreisgauGermany NCT0250038123.838.05COMPLETEDIASO Children's HospitalMarousiGreece NCT0250038122.9349340.64072COMPLETEDIppokratio General Hospital of ThessalonikiThessalonikiGreece NCT0250038119.0404547.49835COMPLETEDSemmelweis Egyetem Genomikai Medicina és Ritka Betegsegek IntezeteBudapestHungary NCT0250038172.5872723.02579COMPLETEDRoyal Instituite of Child NeurosciencesAhmedabadGujaratIndia NCT0250038173.8553518.51957COMPLETEDDeenanth Mangeshkar HospitalPuneMaharashtraIndia NCT02500381-6.2488953.33306COMPLETEDThe Children's University HospitalDublinIreland NCT0250038111.6205744.83804COMPLETEDAzienda Ospedaliero-Universitaria di Ferrara - Arcispedale Sant' AnnaFerraraItaly NCT025003818.9443944.40478COMPLETEDIstituto Giannina GasliniGenoaItaly NCT0250038115.5525638.19394COMPLETEDAz Ospedaliera Universitaria Policlinico G MartinoMessinaItaly NCT0250038112.5983642.78235COMPLETEDFondazione IRCCS Istituto Neurologico Carlo BestaMilanItaly NCT0250038112.5113341.89193COMPLETEDPoliclinico Universitario A GemelliRomeItaly NCT02500381-107.3942124.80209COMPLETEDNeurociencias Estudios Clínicos S.CCuliacánMexico NCT02500381-104.6575624.02032COMPLETEDInstituto de Investigaciones Clínicas para la Salud A.CDurangoMexico NCT0250038121.0117852.22977COMPLETEDSamodzielny Publiczny Centralny Szpital KlinicznyWarsawMasovian VoivodeshipPoland NCT0250038118.6491254.35227COMPLETEDUniwersyteckie Centrum KliniczneGdanskPoland NCT0250038137.6178155.75204COMPLETEDFederal state budget educational institution of higher education "Russian national research medical university n.a. N.I. Pirogov" of Ministry of healthcare of Russian FederationMoscowRussia NCT0250038160.6152956.85733COMPLETEDState Autonomous Healthcare Institution of Sverdlovsk Region Children's Clinical Hospital No. 9 City of EkaterinburgYekaterinburgRussia NCT0250038120.4651344.80401COMPLETEDClinic for Neurology and Psychiatry for Children and YouthBelgradeSerbia NCT02500381126.978437.566COMPLETEDSeoul National University HospitalSeoulSouth Korea NCT02500381129.0335835.34199COMPLETEDPusan National University Yangsan HospitalYangsanSouth Korea NCT025003812.1589941.38879COMPLETEDHospital de La Santa Creu i Sant PauBarcelonaSpain NCT025003812.1589941.38879COMPLETEDHospital Sant Joan de DeuBarcelonaSpain NCT02500381-0.3796639.47391COMPLETEDHospital Universitari i Politecnic La Fe de ValenciaValenciaSpain NCT0250038111.9667957.70716COMPLETEDDrottning Silvias Barn Och UngdomssjukhusGothenburgSweden NCT02500381-4.2576355.86515COMPLETEDRoyal Hospital for Children (Glasgow)GlasgowUnited Kingdom NCT02500381-1.5478553.79648COMPLETEDLeeds Teaching Hospitals NHS TrustLeedsUnited Kingdom NCT02500381-2.9779453.41058COMPLETEDAlder Hey Childrens HospitalLiverpoolUnited Kingdom NCT02500381-0.1257451.50853COMPLETEDGreat Ormond Street Hospital (GOSH)LondonUnited Kingdom NCT02500381-1.6139654.97328COMPLETEDRoyal Victoria InfirmaryNewcastle upon TyneUnited Kingdom NCT02500381-1.2559651.75222COMPLETEDJohn Radcliffe HospitalOxfordUnited Kingdom NCT02354781-82.9987939.96118COMPLETEDNationwide Children's HospitalColumbusOhioUnited States NCT01645098-82.9987939.96118COMPLETEDNationwide Children's HospitalColumbusOhioUnited States NCT01999075-114.0852951.05011COMPLETEDAlberta Children's HospitalCalgaryAlbertaCanada NCT01999075-113.4687153.55014COMPLETEDStollery Children's HospitalEdmontonAlbertaCanada NCT01999075-123.1193449.24966COMPLETEDBC Children's HospitalVancouverBritish ColumbiaCanada NCT01999075-79.8496343.25011COMPLETEDMcMaster UniversityHamiltonOntarioCanada NCT01999075-81.2330442.98339COMPLETEDLondon Health SciencesLondonOntarioCanada NCT01999075-75.6981245.41117COMPLETEDChildren's Hospital of Eastern OntarioOttawaOntarioCanada NCT01999075-79.3986443.70643COMPLETEDHolland Bloorview Kids Rehabilitation HospitalTorontoOntarioCanada NCT01999075-79.3986443.70643COMPLETEDSickKids HospitalTorontoOntarioCanada NCT01999075-73.5878145.50884COMPLETEDHôpital Ste. JustineMontrealQuebecCanada NCT03319030-87.6500541.85003COMPLETEDAnn and Robert H. Lurie Children's Hospital of ChicagoChicagoIllinoisUnited States NCT06270719-92.2895934.74648ENROLLING_BY_INVITATIONArkansas Children's HospitalLittle RockArkansasUnited States NCT06270719-118.2436834.05223ENROLLING_BY_INVITATIONChildren's Hospital Los Angeles - PINLos AngelesCaliforniaUnited States NCT06270719-104.8319239.72943ENROLLING_BY_INVITATIONUniversity of Colorado - PPDSAuroraColoradoUnited States NCT06270719-72.6850941.76371ENROLLING_BY_INVITATIONConnecticut Children's Medical Center - HartfordHartfordConnecticutUnited States NCT06270719-77.0363738.89511ENROLLING_BY_INVITATIONChildren's National Medical CenterWashington D.C.District of ColumbiaUnited States NCT06270719-80.1936625.77427ENROLLING_BY_INVITATIONNicklaus Children's HospitalMiamiFloridaUnited States NCT06270719-81.3792428.53834ENROLLING_BY_INVITATIONNemours Children's Hospital - OrlandoOrlandoFloridaUnited States NCT06270719-82.6792727.77086ENROLLING_BY_INVITATIONAll Children's Research Institute, IncSt. PetersburgFloridaUnited States NCT06270719-87.6500541.85003ENROLLING_BY_INVITATIONAnn and Robert H Lurie Childrens Hospital of ChicagoChicagoIllinoisUnited States NCT06270719-86.1580439.76838ENROLLING_BY_INVITATIONIndiana Clinical and Translational Science InstituteIndianapolisIndianaUnited States NCT06270719-94.6274639.11417ENROLLING_BY_INVITATIONUniversity of Kansas Medical CenterKansas CityKansasUnited States NCT06270719-83.7408842.27756ENROLLING_BY_INVITATIONUniversity of MichiganAnn ArborMichiganUnited States NCT06270719-78.8986235.99403ENROLLING_BY_INVITATIONDuke Lenox Baker Children's HospitalDurhamNorth CarolinaUnited States NCT06270719-81.5190141.08144ENROLLING_BY_INVITATIONChildrens Hospital Medical Center of AkronAkronOhioUnited States NCT06270719-122.6762145.52345ENROLLING_BY_INVITATIONOHSU Healthcare (Oregon Health and Science University)PortlandOregonUnited States NCT06270719-76.6502540.28592ENROLLING_BY_INVITATIONPenn State Health Milton S. Hershey Medical CenterHersheyPennsylvaniaUnited States NCT06270719-75.1636239.95238ENROLLING_BY_INVITATIONChildren's Hospital of PhiladelphiaPhiladelphiaPennsylvaniaUnited States NCT06270719-90.0489835.14953ENROLLING_BY_INVITATIONLe Bonheur Children's HospitalMemphisTennesseeUnited States NCT06270719-86.7844436.16589ENROLLING_BY_INVITATIONVanderbilt University Medical CenterNashvilleTennesseeUnited States NCT06270719-97.3208532.72541ENROLLING_BY_INVITATIONCook Children's HospitalFort WorthTexasUnited States NCT06270719-78.4766838.02931ENROLLING_BY_INVITATIONUniversity of VirginiaCharlottesvilleVirginiaUnited States NCT06270719-76.2852236.84681ENROLLING_BY_INVITATIONChildren's Hospital of the King's DaughtersNorfolkVirginiaUnited States NCT06270719-122.3320747.60621ENROLLING_BY_INVITATIONSeattle Children's HospitalSeattleWashingtonUnited States NCT06270719-89.4012343.07305ENROLLING_BY_INVITATIONThe Board of Regents of the University of WisconsinMadisonWisconsinUnited States NCT06270719-87.9064743.0389ENROLLING_BY_INVITATIONThe Medical College of WisconsinMilwaukeeWisconsinUnited States NCT00018109-90.1978938.62727COMPLETEDWashington University School of MedicineSt LouisMissouriUnited States NCT07188012121.4580631.22222RECRUITINGRECRUITINGShanghai Children's Medical CenterShanghaiShanghai MunicipalityChinaName: Winston Town, Role: CONTACT, Phone: 212-920-5501, Email: Winston.town@spotbiosystems.com Name: Wang Jiwen, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT03038399-121.7405238.54491COMPLETEDUniversity of California DavisDavisCaliforniaUnited States NCT03038399-82.3248329.65163COMPLETEDUniversity of FloridaGainesvilleFloridaUnited States NCT03038399-81.3792428.53834COMPLETEDNemours Children's HospitalOrlandoFloridaUnited States NCT03038399-87.6500541.85003COMPLETEDAnn & Robert H. Lurie Children's HospitalChicagoIllinoisUnited States NCT03038399-78.8986235.99403COMPLETEDDuke UniversityDurhamNorth CarolinaUnited States NCT03038399-96.8066732.78306COMPLETEDUniversity of Texas Southwestern Medical CenterDallasTexasUnited States NCT03038399144.96332-37.814COMPLETEDRoyal Children's HospitalMelbourneAustralia NCT03038399150.98768-33.80383COMPLETEDSydney Children's HospitalWestmeadAustralia NCT03038399-114.0852951.05011COMPLETEDAlberta Children's HospitalCalgaryAlbertaCanada NCT0303839934.8874732.08707COMPLETEDSchneider Children's Medical CenterPetah TikvaIsrael NCT0303839911.9667957.70716COMPLETEDQueen Silvia Children's HospitalGothenburgSweden NCT03038399-1.6139654.97328COMPLETEDNewcastle upon Tyne Hospitals NHS Foundation TrustNewcastle upon TyneUnited Kingdom NCT01603407-118.2436834.05223COMPLETEDUniversity of California Los Angeles (UCLA) Medical CenterLos AngelesCaliforniaUnited States NCT01603407-121.494438.58157COMPLETEDUniversity of California Davis Medical CenterSacramentoCaliforniaUnited States NCT01603407-77.0363738.89511COMPLETEDChildren's National Medical CenterWashington D.C.District of ColumbiaUnited States NCT01603407-81.3792428.53834COMPLETEDNemours Children's HospitalOrlandoFloridaUnited States NCT01603407-87.6500541.85003COMPLETEDAnn and Robert H. Lurie Children's Hospital of ChicagoChicagoIllinoisUnited States NCT01603407-94.6274639.11417COMPLETEDUniversity of Kansas Medical CenterKansas CityKansasUnited States NCT01603407-71.0597742.35843COMPLETEDBoston Children's HospitalBostonMassachusettsUnited States NCT01603407-106.6511435.08449COMPLETEDUniversity of New Mexico Health Science CenterAlbuquerqueNew MexicoUnited States NCT01603407-77.6155643.15478COMPLETEDUniversity of Rochester Medical CenterRochesterNew YorkUnited States NCT01603407-79.0558435.9132COMPLETEDUniversity of North Carolina at Chapel HillChapel HillNorth CarolinaUnited States NCT01603407-82.9987939.96118COMPLETEDNationwide Children's HospitalColumbusOhioUnited States NCT01603407-76.6502540.28592COMPLETEDPenn State Hershey Medical CenterHersheyPennsylvaniaUnited States NCT01603407-86.7844436.16589COMPLETEDVanderbilt Children's HospitalNashvilleTennesseeUnited States NCT01603407-111.8910540.76078COMPLETEDUniversity of Utah Medical CenterSalt Lake CityUtahUnited States NCT01603407-114.0852951.05011COMPLETEDAlberta Children's HospitalCalgaryAlbertaCanada NCT01603407-81.2330442.98339COMPLETEDChildren's Hospital London Health Sciences CentreLondonOntarioCanada NCT01603407-75.6981245.41117COMPLETEDChildren's Hospital of Eastern Ontario (CHEO)OttawaOntarioCanada NCT0160340713.7383251.05089COMPLETEDChildren's Hospital, Technical University DresdenDresdenGermany NCT016034077.0122851.45657COMPLETEDUniversity Hospital of EssenEssenGermany NCT016034077.8522247.9959COMPLETEDUniversity Medical Center FreiburgFreiburg im BreisgauGermany NCT016034079.9322851.53443COMPLETEDChildren's University Hospital, GöttingenGöttingenGermany NCT0160340715.5525638.19394COMPLETEDUniversity of Messina AOU Policlinico Gaetano MartinoMessinaItaly NCT016034079.1895145.46427COMPLETEDC. Besta Neurological Institute FoundationMilanItaly NCT0160340711.1426144.38225COMPLETEDUniversity of Padova School of MedicinePadovaItaly NCT0160340711.9913844.88856COMPLETEDNeuromuscular Center University of TurinTorinoItaly NCT01603407-1.5478553.79648COMPLETEDThe General Infirmary at LeedsLeedsEnglandUnited Kingdom NCT01603407-4.2576355.86515COMPLETEDGreater Glasgow and Clyde NHS Yorkhill HospitalGlasgowScotlandUnited Kingdom NCT01603407-1.8998352.48142COMPLETEDHeart of England NHS Foundation Trust Birmingham Heartland's HospitalBirminghamUnited Kingdom NCT01603407-2.9779453.41058COMPLETEDAlder Hey Children's Hospital NHS TrustLiverpoolUnited Kingdom NCT01603407-0.1257451.50853COMPLETEDGreat Ormond Street Hospital for Children NHS TrustLondonUnited Kingdom NCT01603407-2.2374353.48095COMPLETEDRoyal Manchester Children's HospitalManchesterUnited Kingdom NCT01603407-1.6139654.97328COMPLETEDInstitute of Human Genetics, International Centre for LifeNewcastle upon TyneUnited Kingdom NCT01125709-77.0363738.89511COMPLETEDChildren's National Medical CenterWashington D.C.District of ColumbiaUnited States NCT01125709-90.1978938.62727COMPLETEDWashington University - St. LouisSt LouisMissouriUnited States NCT01125709-80.8431335.22709COMPLETEDCarolinas Medical CenterCharlotteNorth CarolinaUnited States NCT01125709144.95-37.78333COMPLETEDRoyal Children's HospitalParkvilleVictoriaAustralia NCT0112570912.5983642.78235COMPLETEDCentro Clinico NemoMilanItaly NCT0203724390.4074423.7104COMPLETEDUrban DhakaDhakaDhaka DivisionBangladesh NCT0435316732.8542739.91987COMPLETEDHacettepe UniversityAnkaraSıhhiyeTurkey (Türkiye) NCT02964377-121.494438.58157COMPLETEDUC Davis Medical CenterSacramentoCaliforniaUnited States NCT02814019-86.8024933.52066TERMINATEDUniversity of AlabamaBirminghamAlabamaUnited States NCT02814019-112.0740433.44838TERMINATEDPhoenix Children's HospitalPhoenixArizonaUnited States NCT02814019-110.9264832.22174TERMINATEDBanner University of Arizona Medical CenterTucsonArizonaUnited States NCT02814019-118.2436834.05223TERMINATEDChildrens Hospital of Los AngelesLos AngelesCaliforniaUnited States NCT02814019-118.2436834.05223TERMINATEDDavid Geffen School of Medicine at UCLALos AngelesCaliforniaUnited States NCT02814019-121.494438.58157TERMINATEDUC Davis Department of Physical Medicine and RehabilitationSacramentoCaliforniaUnited States NCT02814019-117.2897734.10834TERMINATEDLoma Linda University HealthcareSan BernardinoCaliforniaUnited States NCT02814019-82.4584327.94752TERMINATEDShriners Hospitals for Children-TampaTampaFloridaUnited States NCT02814019-84.3879833.749TERMINATEDRare Disease ResearchAtlantaGeorgiaUnited States NCT02814019-91.5301741.66113TERMINATEDUniversity of IowaIowa CityIowaUnited States NCT02814019-94.631939.02223TERMINATEDUniversity of KansasFairwayKansasUnited States NCT02814019-76.6121939.29038TERMINATEDJohns Hopkins UniversityBaltimoreMarylandUnited States NCT02814019-71.0597742.35843TERMINATEDChildren's Hospital BostonBostonMassachusettsUnited States NCT02814019-93.0932744.94441TERMINATEDGillette Children's Specialty HealthcareSaint PaulMinnesotaUnited States NCT02814019-77.6155643.15478TERMINATEDUniversity of Rochester Medical CenterRochesterNew YorkUnited States NCT02814019-80.8431335.22709TERMINATEDNeurosciences Institute, Neurology - Charlotte Carolinas Healthcare SystemCharlotteNorth CarolinaUnited States NCT02814019-84.5143939.12711TERMINATEDCincinnati Children's HospitalCincinnatiOhioUnited States NCT02814019-81.6954141.4995TERMINATEDMetroHealth Medical CenterClevelandOhioUnited States NCT02814019-75.1636239.95238TERMINATEDChildren's Hospital of PhiladelphiaPhiladelphiaPennsylvaniaUnited States NCT02814019-97.3208532.72541TERMINATEDCook Children's Medical CenterFort WorthTexasUnited States NCT0281401916.3720848.20849TERMINATEDGottfried von Preyer'sches KinderspitalViennaAustria NCT028140194.7009350.87959TERMINATEDUniversity Hospital LeuvenLeuvenBelgium NCT028140195.5674950.63373TERMINATEDCentre de Référence Neuromusculaire, CHR CitadelleLiègeBelgium NCT0281401923.3241542.69751TERMINATEDSofia Medical UniversitySofiaBulgaria NCT028140193.0551250.63391TERMINATEDService de neuropédiatrie Pôle Pédiatrie CHRU de Lille - Hôpital Jeanne de FlandreLilleFrance NCT028140193.8763543.61093TERMINATEDCHRU de Montpellier - Hôpital Gui de ChauliacMontpellierFrance NCT02814019-1.5533647.21725TERMINATEDHôpital Hôtel DieuNantesFrance NCT028140192.348848.85341TERMINATEDI-Motion - Plateforme d'essais cliniques pédiatriques Hôpital Armand Trousseau bâtiment Lemariey porte 20ParisFrance NCT028140191.4436743.60426TERMINATEDHôpital des enfantsToulouseFrance NCT0281401913.4105352.52437TERMINATEDUniversitätsmedizin Berlin Campus Virchow-KlinikumBerlinGermany NCT028140196.9550.93333TERMINATEDUniklinik KölnCologneGermany NCT028140197.0122851.45657TERMINATEDUniversitätsklinikum EssenEssenGermany NCT028140197.8522247.9959TERMINATEDUniversitätsklinik Freiburg Zentrum für Kinderheilkunde und JugendmedizinFreiburg im BreisgauGermany NCT028140199.9930253.55073TERMINATEDUniversitätsklinikum Hamburg-Eppendorf, Klinik für Kinder- und JugendmedizinHamburgGermany NCT028140198.6907949.40768TERMINATEDUniversitätsklinikum Heidelberg Zentrum für Kinder- und JugendmedizinHeidelbergGermany NCT0281401913.3124351.60698TERMINATEDZentrum für neuromuskuläre ErkrankungenMünchenGermany NCT0281401919.0404547.49835TERMINATEDSemmelweis University 2nd Department of PaediatricsBudapestHungary NCT02814019-6.2488953.33306TERMINATEDChildren's University HospitalDublinIreland NCT0281401934.8874732.08707TERMINATEDInstitute of Neurology at Schneider Children's Medical Center of IsraelPetah TikvaIsrael NCT028140199.2945.80075TERMINATEDFondazione IRCCS Eugenio MedeaBosisio PariniItaly NCT0281401911.8721145.21604TERMINATEDIstituto Giannina GasliniGenovaItaly NCT0281401915.5525638.19394TERMINATEDScientific Coordinator Nemo Sud Clinical CenterMessinaItaly NCT0281401912.5983642.78235TERMINATEDCentro Clinico NEMO (NEuroMuscular Omnicentre), Niguarda HospitalMilanItaly NCT0281401914.2681140.85216TERMINATEDServizio di Cardiomiologia e Genetica Medica, AOU Università degli Studi della Campania "Luigi Vanvitelli"NaplesItaly NCT0281401911.1426144.38225TERMINATEDReparto Di Neurologia dell'Osperdale Di PadovaPadovaItaly NCT028140199.1591745.19205TERMINATEDDipartimento di Clinica Neurologica e Psichiatrica dell'Età Evolutiva della Fondazione IRCCS "C. Mondino" di PaviaPaviaItaly NCT0281401911.1064244.99364TERMINATEDU.O.C. Neuropsichiatria InfantileRomaItaly NCT028140194.4930652.15833TERMINATEDLUMCLeidenNetherlands NCT028140195.8527851.8425TERMINATEDRadboud university medical centreNijmegenNetherlands NCT028140192.1589941.38879TERMINATEDHospital Sant Joan de Déu NeuropediatraBarcelonaSpain NCT028140192.1589941.38879TERMINATEDHospital Universitari Vall D' HebronBarcelonaSpain NCT02814019-3.7025640.4165TERMINATEDHospital Universitario La PazMadridSpain NCT02814019-5.9731737.38283TERMINATEDHospital Universitario Virgen del RocioSevilleSpain NCT02814019-0.3796639.47391TERMINATEDHospital La Fe de ValenciaValenciaSpain NCT0281401911.9667957.70716TERMINATEDSahlgrenska University HospitalGothenburgSweden NCT028140197.5732747.55839TERMINATEDCenter for neuromuscular disorders, Universitäts-Kinderspital beider Basel (UKBB)BaselSwitzerland NCT02814019-1.5478553.79648TERMINATEDLeeds Teaching Hospital NHS TrustLeedsUnited Kingdom NCT02814019-0.1257451.50853TERMINATEDUCL, National Hospital for Neurology and NeurosurgeryLondonUnited Kingdom NCT02814019-0.1257451.50853TERMINATEDGreat Ormond Street Hospital for ChildrenLondonUnited Kingdom NCT02814019-5.8897954.21804TERMINATEDJohn Walton Muscular Dystrophy Research CentreNewcastleUnited Kingdom NCT02814019-3.0549752.86195TERMINATEDRobert Jones and Agnes Hunt Orthopaedic HospitalOswestryUnited Kingdom NCT02814019-1.2559651.75222TERMINATEDOxford University hospitals NHS Foundation TrustOxfordUnited Kingdom NCT02814019-1.465953.38297TERMINATEDRoyal Hallamshire HospitalSheffieldUnited Kingdom NCT02525302-121.494438.58157TERMINATEDUniversity of California, Davis Medical CenterSacramentoCaliforniaUnited States NCT02525302-76.6121939.29038TERMINATEDKennedy Krieger Institute, Johns Hopkins School of MedicineBaltimoreMarylandUnited States NCT02525302-90.1978938.62727TERMINATEDWashington University School of MedicineSt LouisMissouriUnited States NCT02525302-84.5143939.12711TERMINATEDCincinnati Children's Hospital Medical CenterCincinnatiOhioUnited States NCT02525302-82.9987939.96118TERMINATEDNationwide Children's HospitalColumbusOhioUnited States NCT055588132.348848.85341WITHDRAWNNecker HospitalParisFrance NCT0354107032.8542739.91987COMPLETEDHacettepe UniversityAnkaraSıhhiyeTurkey (Türkiye) NCT02439216-118.2436834.05223COMPLETEDLos AngelesCaliforniaUnited States NCT02439216-82.3248329.65163COMPLETEDGainesvilleFloridaUnited States NCT02439216-81.3792428.53834COMPLETEDOrlandoFloridaUnited States NCT02439216-122.6762145.52345COMPLETEDPortlandOregonUnited States NCT02439216-75.1636239.95238COMPLETEDPhiladelphiaPennsylvaniaUnited States NCT03531788-79.9958940.44062TERMINATEDUniversity of PittsburghPittsburghPennsylvaniaUnited States NCT043359422.1823248.84226COMPLETEDHôpital Raymond PoincaréGarchesFrance NCT07058662116.3972339.9075RECRUITINGRECRUITINGPeking Union Medical College HospitalBeijingBeijing MunicipalityChinaName: Yi Dai, MD, Role: CONTACT, Phone: +86-13811177531, Email: pumchdy@sina.com NCT06692426-93.2638444.97997RECRUITINGRECRUITINGMasonic Cancer CenterMinneapolisMinnesotaUnited StatesName: Peter Kang, MD, Role: CONTACT, Phone: , Email: NCT075600593.0874636.73225COMPLETEDDjillali Belkhenchir Public Hospital (formerly Birtraria)AlgiersEl BiarAlgeria NCT06564974-112.0740433.44838RECRUITINGRECRUITINGPhoenix Children's HospitalPhoenixArizonaUnited StatesName: Saunder Bernes, MD, Role: CONTACT, Phone: 602 933 0956, Email: sbernes@phoenixchildrens.com NCT06564974-92.2895934.74648RECRUITINGRECRUITINGArkansas Childrens HospitalLittle RockArkansasUnited StatesName: Aravindhan Veerapandiyan, MD, Role: CONTACT, Phone: (501) 364-1850, Email: aveerapandiyan@uams.edu NCT06564974-118.2436834.05223NOT_YET_RECRUITINGRECRUITINGChildren's Hospital Los AngelesLos AngelesCaliforniaUnited StatesName: Leigh Maria Ramos-Platt, MD, Role: CONTACT, Phone: 323 660 2450, Email: lramosplatt@chla.usc.edu NCT06564974-122.1430237.44188NOT_YET_RECRUITINGRECRUITINGStanford UniversityPalo AltoCaliforniaUnited StatesName: Jenna Klotz, MD, Role: CONTACT, Phone: 408 426 5590, Email: NCT06564974-121.494438.58157NOT_YET_RECRUITINGRECRUITINGUniversity of California, DavisSacramentoCaliforniaUnited StatesName: Craig McDonald, MD, Role: CONTACT, Phone: 916 734 7041, Email: cmmcdonald@ucdavis.edu NCT06564974-82.3248329.65163NOT_YET_RECRUITINGRECRUITINGUniversity of Florida Clinical and Translational Science InstitueGainesvilleFloridaUnited StatesName: Julie Berthy, NP, Role: CONTACT, Phone: 352 273 8700, Email: jberthy@ufl.edu NCT06564974-80.1936625.77427RECRUITINGRECRUITINGNicklaus Children's HospitalMiamiFloridaUnited StatesName: Migvis Monduy, MD, Role: CONTACT, Phone: 305 663 8330, Email: Migvis.Monduy@Nicklaushealth.org NCT06564974-81.3792428.53834RECRUITINGRECRUITINGNemours Children's HospitalOrlandoFloridaUnited StatesName: Omer Abdul Hamid, MD, Role: CONTACT, Phone: 407 650 7715, Email: Omer.Abdulhamid@nemours.org NCT06564974-82.6792727.77086NOT_YET_RECRUITINGRECRUITINGJohns Hopkins All Children's HospitalSt. PetersburgFloridaUnited StatesName: Susan Dvojack, Role: CONTACT, Phone: 727-898-7451, Email: sdvojac1@jhmi.edu Name: Matias Lopez Chacon, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT06564974-87.6500541.85003RECRUITINGRECRUITINGLurie Children's Hospital of ChicagoChicagoIllinoisUnited StatesName: Nancy Kuntz, MD, Role: CONTACT, Phone: 312 227 4000, Email: NKuntz@luriechildrens.org NCT06564974-86.1580439.76838NOT_YET_RECRUITINGRECRUITINGIndiana University Health - Riley Hospital for ChildrenIndianapolisIndianaUnited StatesName: Marcia Felker, MD, Role: CONTACT, Phone: 317 278 7364, Email: mamccann@iu.edu NCT06564974-94.6274639.11417RECRUITINGRECRUITINGUniversity of Kansas Medical CenterKansas CityKansasUnited StatesName: Jeffrey Statland, MD, Role: CONTACT, Phone: 913 588 6970, Email: JStatland@kumc.edu NCT06564974-71.8175742.31676RECRUITINGRECRUITINGUniversity of Massachusetts Memorial Medical CenterNorth WorcesterMassachusettsUnited StatesName: Stephen M. Chrzanowski, MD, PhD, Role: CONTACT, Phone: (774) 441-7615, Email: Stephen.Chrzanowski@umassmed.edu NCT06564974-85.6680942.96336RECRUITINGRECRUITINGHelen DeVos Children's HospitalGrand RapidsMichiganUnited StatesName: Jena Krueger, MD, Role: CONTACT, Phone: 616-447-5836, Email: Jena.Krueger@helendevoschildrens.org NCT06564974-80.8431335.22709RECRUITINGRECRUITINGAtrium Health Neurosciences InstituteCharlotteNorth CarolinaUnited StatesName: Urvi Desai, MD, Role: CONTACT, Phone: 704 468 0101, Email: Urvi.Desai@atriumhealth.org NCT06564974-78.8986235.99403RECRUITINGRECRUITINGDuke University Medical Center and Childrens Health CenterDurhamNorth CarolinaUnited StatesName: Mai ElMallah, MD, Role: CONTACT, Phone: (919) 681-3364, Email: mai.elmallah@duke.edu NCT06564974-84.5143939.12711RECRUITINGRECRUITINGCincinnati Children's Hospital Medical CenterCincinnatiOhioUnited StatesName: Cuixia Tian, MD, Role: CONTACT, Phone: 513 636 9285, Email: Cuixia.Tian@cchmc.org NCT06564974-76.6502540.28592RECRUITINGRECRUITINGPenn State Milton S. Hershey Medical Center- Penn State Hershey Neuroscience InstituteHersheyPennsylvaniaUnited StatesName: Dustin Paul, MD, Role: CONTACT, Phone: 717-531-3828, Email: dpaul2@pennstatehealth.psu.edu NCT06564974-75.1636239.95238RECRUITINGRECRUITINGChildren's Hospital of Philadelphia (CHOP)PhiladelphiaPennsylvaniaUnited StatesName: Sabrina Yum, MD, Role: CONTACT, Phone: 215 590 4719, Email: YUMS@chop.edu NCT06564974-96.8066732.78306RECRUITINGRECRUITINGUniversity of Texas Southwestern Medical CenterDallasTexasUnited StatesName: Kaitlin Batley, MD, Role: CONTACT, Phone: 214 456 9561, Email: Kaitlin.Batley@UTSouthwestern.edu NCT06564974-97.1330733.21484RECRUITINGRECRUITINGNeurology Rare Disease Center - Neurology & Neuromuscular Care CenterDentonTexasUnited StatesName: Diana Castro, MD, Role: CONTACT, Phone: 972 982 7411, Email: Research@neuromdcenter.com NCT06564974-98.4936329.42412RECRUITINGRECRUITINGThe University of Texas Health Science Center at San AntonioSan AntonioTexasUnited StatesName: Matthew Wicklund, MD, Role: CONTACT, Phone: 210 450 0500, Email: wicklund@uthscsa.edu NCT06564974-78.4766838.02931RECRUITINGRECRUITINGUniversity of Virginia Health System (UVAHS) - Pediatric Neuromuscular CenterCharlottesvilleVirginiaUnited StatesName: Rebecca Scharf, MD, Role: CONTACT, Phone: 434 924 1647, Email: RS3YK@uvahealth.org NCT06564974-122.3320747.60621RECRUITINGRECRUITINGSeattle Children's HospitalSeattleWashingtonUnited StatesName: Seth Perlman, MD, Role: CONTACT, Phone: 206-987-0804, Email: Seth.Perlman@seattlechildrens.org NCT06564974-87.9064743.0389NOT_YET_RECRUITINGRECRUITINGChildren's WisconsinMilwaukeeWisconsinUnited StatesName: Rebecca Rehborg, Role: CONTACT, Phone: 877-607-5280, Email: rrehborg@mcw.edu Name: Virginia Kaperick, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT06564974-66.1057218.46633RECRUITINGRECRUITINGSan Jorge Children's HospitalSan JuanPuerto RicoPuerto RicoName: Yaritza Berrios, Role: CONTACT, Phone: 787-758-2525, Email: yartiza.berrios@upr.edu Name: Edwardo Ramos, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT06564974-66.1057218.46633RECRUITINGRECRUITINGFDI Clinical ResearchSan JuanPuerto RicoPuerto RicoName: Alexandra Montalvo Acevedo, MD, Role: CONTACT, Phone: 787 722 1248, Email: alexandra.montalvo@fdipr.com NCT03532542-112.0740433.44838TERMINATEDNeuromuscular Research CenterPhoenixArizonaUnited States NCT03532542-118.2436834.05223TERMINATEDChildren's Hospital Los AngelesLos AngelesCaliforniaUnited States NCT03532542-118.2436834.05223TERMINATEDUniversity of California Los AngelesLos AngelesCaliforniaUnited States NCT03532542-122.1430237.44188TERMINATEDStanford Neuroscience Health CenterPalo AltoCaliforniaUnited States NCT03532542-117.1647232.71571TERMINATEDRady Children's Hospital- San DiegoSan DiegoCaliforniaUnited States NCT03532542-82.3248329.65163TERMINATEDUF Health: University of Florida Clinical Research CenterGainesvilleFloridaUnited States NCT03532542-87.1638630.35714TERMINATEDNW Florida Clinical Research Group, LLCGulf BreezeFloridaUnited States NCT03532542-84.3879833.749TERMINATEDRare Disease Research, LLCAtlantaGeorgiaUnited States NCT03532542-87.6500541.85003TERMINATEDAnn and Robert H Lurie Childrens Hospital of ChicagoChicagoIllinoisUnited States NCT03532542-91.5301741.66113TERMINATEDUniversity of Iowa Childrens HospitalIowa CityIowaUnited States NCT03532542-94.6274639.11417TERMINATEDUniversity of Kansas Medical CenterKansas CityKansasUnited States NCT03532542-76.6121939.29038TERMINATEDKennedy Krieger InstituteBaltimoreMarylandUnited States NCT03532542-71.0597742.35843TERMINATEDBoston Children's HospitalBostonMassachusettsUnited States NCT03532542-90.1978938.62727TERMINATEDSt. Louis Children's HospitalSt LouisMissouriUnited States NCT03532542-115.1372236.17497TERMINATEDLas Vegas ClinicLas VegasNevadaUnited States NCT03532542-77.6155643.15478TERMINATEDUniversity of Rochester Medical Center - Department of NeurologyRochesterNew YorkUnited States NCT03532542-84.5143939.12711TERMINATEDCincinnati Children's Hospital Medical CenterCincinnatiOhioUnited States NCT03532542-82.9987939.96118TERMINATEDAbigail Wexner Research Institute at Nationwide Children's HospitalColumbusOhioUnited States NCT03532542-122.6762145.52345TERMINATEDShriners Hospital for ChildrenPortlandOregonUnited States NCT03532542-79.9958940.44062TERMINATEDChildren's Hospital of Pittsburgh of UPMCPittsburghPennsylvaniaUnited States NCT03532542-96.8066732.78306TERMINATEDChildren's Medical Center DallasDallasTexasUnited States NCT03532542-95.3632729.76328TERMINATEDTexas Children's HospitalHoustonTexasUnited States NCT03532542-111.8910540.76078TERMINATEDUniversity of Utah - PPDSSalt Lake CityUtahUnited States NCT03532542-76.2852236.84681TERMINATEDChildren's Hospital of The King's DaughtersNorfolkVirginiaUnited States NCT03532542-87.9064743.0389TERMINATEDChildren's Hospital of Wisconsin, Corporate Center Suite 540MilwaukeeWisconsinUnited States NCT035325423.7166751.05TERMINATEDUZ GentGhentOost-VlaanderenBelgium NCT035325424.7009350.87959TERMINATEDUZ LeuvenLeuvenBelgium NCT0353254223.3241542.69751TERMINATEDUniversity Multiprofile Hospital for active treatment Aleksandrovska EAD Clinic of Neurological DiseasesSofiaBulgaria NCT03532542-114.0852951.05011TERMINATEDAlberta Children's HospitalCalgaryAlbertaCanada NCT03532542-75.6981245.41117TERMINATEDChildren's Hospital of Eastern OntarioOttawaOntarioCanada NCT0353254216.6079649.19522TERMINATEDFakultni nemocnice Brno, Klinika detske neurologie LF MU a FN BrnoBrnoCzechia NCT0353254214.4207650.08804TERMINATEDFakultni nemocnice v MotolePragueCzechia NCT03532542-1.5533647.21725TERMINATEDHotel Dieu- CHU NantesNantesFrance NCT035325422.348848.85341TERMINATEDHôpital Armand TrousseauParisFrance NCT035325427.8522247.9959TERMINATEDUniversitatsklinikum FreibergFreiburg im BreisgauBaden-WurttembergGermany NCT035325427.0122851.45657TERMINATEDUniversitatsklinikum EssenEssenNorth Rhine-WestphaliaGermany NCT0353254234.8874732.08707TERMINATEDSchneider Children's Medical Center of IsraelPetah TikvaIsrael NCT035325428.9443944.40478TERMINATEDUOSD Centro Traslazionale di Miologia e Patologie NeurogenerativeGenoaLiguriaItaly NCT0353254211.706944.80583TERMINATEDAzienda Ospedaliero-Universitaria di Ferrara - Arcispedale Sant' AnnaConaItaly NCT0353254212.5983642.78235TERMINATEDFondazione Policlinico Universitario A GemelliMilanItaly NCT0353254221.0117852.22977TERMINATEDSamodzielny Publiczny Centralny Szpital KlinicznyWarsawMasovian VoivodeshipPoland NCT0353254218.6491254.35227TERMINATEDUniwersyteckie Centrum Kliniczne, Klinica Neurologii RozwojowejGdanskPoland NCT035325422.1589941.38879TERMINATEDHospital de La Santa Creu i Sant PauBarcelonaCataloniaSpain NCT035325422.1589941.38879TERMINATEDHospital Sant Joan de DeuBarcelonaSpain NCT03532542-0.3796639.47391TERMINATEDHospital Universitari i Politecnic La Fe de ValenciaValenciaSpain NCT0353254211.9667957.70716TERMINATEDProvningsenhet Barn, Drottning Silvias Och UngdomssjukhusGothenburgSweden NCT03532542-1.5478553.79648TERMINATEDLeeds General Infirmary, Leeds Teaching Hospitals NHS TrustLeedsUnited Kingdom NCT03532542-2.9779453.41058TERMINATEDAlder Hey Children's NHS Foundation TrustLiverpoolUnited Kingdom NCT03532542-0.1257451.50853TERMINATEDGreat Ormond Street Hospital (GOSH)LondonUnited Kingdom NCT03532542-1.6139654.97328TERMINATEDRoyal Victoria InfirmaryNewcastle upon TyneUnited Kingdom NCT06491927-92.2895934.74648ENROLLING_BY_INVITATIONArkansas Children's HospitalLittle RockArkansasUnited States NCT06491927-122.1430237.44188ENROLLING_BY_INVITATIONStanford School of Medicine /Division of Neuromuscular MedicinePalo AltoCaliforniaUnited States NCT06491927-87.6500541.85003ENROLLING_BY_INVITATIONAnn & Robert H. Lurie Children's Hospital of ChicagoChicagoIllinoisUnited States NCT06491927-96.8066732.78306ENROLLING_BY_INVITATIONThe University of Texas Southwestern Medical CenterDallasTexasUnited States NCT06491927-77.4602637.55376ENROLLING_BY_INVITATIONVirginia Commonwealth UniversityRichmondVirginiaUnited States NCT02196467-81.2330442.98339RECRUITINGUNKNOWNChildren's Hospital London Health Sciences CentreLondonOntarioCanada NCT02196467-71.2145446.81228RECRUITINGUNKNOWNCentre de recherche du CHU de Quebec - CHULQuébecCanada NCT0176129215.5525638.19394COMPLETEDAzienda Ospedaliera Universitaria Policlinico G. MartinoMessinaItaly NCT0176129212.5983642.78235COMPLETEDIRCCS Ca' Granda Ospedale Maggiore Policlinico di MilanoMilanItaly NCT0176129211.1064244.99364COMPLETEDPoliclinico Agostino GemelliRomaItaly NCT0176129212.5113341.89193COMPLETEDOspedale Pediatrico Bambino GesùRomeItaly NCT02376816-82.9987939.96118COMPLETEDNationwide Children's HospitalColumbusOhioUnited States NCT0216535812.5655355.67594COMPLETEDNeuromuscular Research Unit, RigshospitaletCopenhagenDenmark NCT0506663318.6491254.35227RECRUITINGRECRUITINGUniversity Clinical Centre in Gdańsk, Clinic of Paediatric Cardiology and Congenital Heart DefectsGdanskPomeranian VoivodeshipPolandName: Joanna Kwiatkowska, MD, PhD, Role: CONTACT, Phone: 583492899, Email: joanna.kwiatkowska@gumed.edu.pl Name: Joanna Kwiatkowska, MD, PhD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT06643442-0.1257451.50853NOT_YET_RECRUITINGGreat Ormond Street Hospital NHS Foundation TrustLondonGreater LondonUnited Kingdom NCT06597656-82.3248329.65163TERMINATEDUniversity of Florida, College of MedicineGainesvilleFloridaUnited States NCT06597656-90.1978938.62727TERMINATEDWashington University School of Medicine in St. LouisSt LouisMissouriUnited States NCT06597656-82.9987939.96118TERMINATEDNationwide Children's HospitalColumbusOhioUnited States NCT0530597639.7269441.005COMPLETEDKaradeniz Technical UniversityTrabzonOrtahisarTurkey (Türkiye) NCT013809642.348848.85341COMPLETEDInstitute of MyologyParisFrance NCT02195999-82.3248329.65163COMPLETEDClinical and Translational Research BuildingGainesvilleFloridaUnited States NCT01557400144.95-37.78333COMPLETEDRoyal Children's HospitalParkvilleMelbourneAustralia NCT01557400150.98768-33.80383COMPLETEDInstitute For Neuromuscular Research, The Children's Hospital at WestmeadWestmeadAustralia NCT015574004.7009350.87959COMPLETEDUniversity Hospital KU LeuvenLeuvenBelgium NCT01557400-114.0852951.05011COMPLETEDAlberta Children's HospitalCalgaryAlbertaCanada NCT01557400-123.1193449.24966COMPLETEDBritish Columbia Children's HospitalVancouverBritish ColumbiaCanada NCT01557400-81.2330442.98339COMPLETEDChildren's Hospital of Western OntarioLondonOntarioCanada NCT015574005.3810743.29695COMPLETEDHôpital d'Enfants CHU TimoneMarseilleFrance NCT01557400-1.5533647.21725COMPLETEDLaboratoire d'Exploration FonctionnellesNantesFrance NCT015574002.348848.85341COMPLETEDGroupe Hospitalier La Pitie-SalpetriereParisFrance NCT015574007.0122851.45657COMPLETEDUniversity of Essen - Clinic for ChildrenEssenGermany NCT015574007.8522247.9959COMPLETEDUniversity HospitalFreiburg im BreisgauGermany NCT0155740035.2163331.76904COMPLETEDHadassah Medical Center, Hebrew University HospitalJerusalemIsrael NCT015574009.1895145.46427COMPLETEDOspedale Maggiore Policlinico in MilanMilanItaly NCT0155740012.5113341.89193COMPLETEDOspedale Pediatrico Bambino GesuRomeItaly NCT0155740012.5113341.89193COMPLETEDU.O. Complessa di Neuropsichiatria InfantileRomeItaly NCT015574002.1589941.38879COMPLETEDHospital Sant Joan de déuBarcelonaSpain NCT01557400-0.3796639.47391COMPLETEDHospital Universitari La FeValenciaSpain NCT0155740011.9667957.70716COMPLETEDQueen Silvia Children's HospitalGothenburgSweden NCT0155740018.0687159.32938COMPLETEDAstrid Lindgren Pediatric HospitalStockholmSweden NCT01557400-0.1257451.50853COMPLETEDGreat Ormond Street HospitalLondonUnited Kingdom NCT01557400-1.6139654.97328COMPLETEDUniversity of Newcastle Institute of Human GeneticsNewcastle upon TyneUnited Kingdom NCT03433807-112.0740433.44838NO_LONGER_AVAILABLEPhoenix Children's HospitalPhoenixArizonaUnited States NCT03433807-72.9281641.30815NO_LONGER_AVAILABLEYale New Haven HospitalNew HavenConnecticutUnited States NCT03433807-87.6500541.85003NO_LONGER_AVAILABLELurie Children's Hospital of ChicagoChicagoIllinoisUnited States NCT03433807-91.5301741.66113NO_LONGER_AVAILABLEUniversity of IowaIowa CityIowaUnited States NCT03433807-94.6274639.11417NO_LONGER_AVAILABLEUniversity of Kansas Medical CenterKansas CityKansasUnited States NCT03433807-76.6121939.29038NO_LONGER_AVAILABLEKennedy KriegerBaltimoreMarylandUnited States NCT03433807-74.0059740.71427NO_LONGER_AVAILABLEColumbia University Pediatric Neuromuscular CenterNew YorkNew YorkUnited States NCT03433807-80.8431335.22709NO_LONGER_AVAILABLECarolina's Healthcare SystemCharlotteNorth CarolinaUnited States NCT03433807-84.5143939.12711NO_LONGER_AVAILABLECincinnati Children's Hospital Medical CenterCincinnatiOhioUnited States NCT03433807-75.1636239.95238NO_LONGER_AVAILABLEChildren's Hospital of PhiladelphiaPhiladelphiaPennsylvaniaUnited States NCT03433807-78.4766838.02931NO_LONGER_AVAILABLEUniversity of Virginia Children's HospitalCharlottesvilleVirginiaUnited States NCT03433807-117.4290847.65966NO_LONGER_AVAILABLESt. Luke's Rehabilitation InstituteSpokaneWashingtonUnited States NCT05338099126.978437.566COMPLETEDSamsung Medical CenterSeoulSouth Korea NCT06867107144.96332-37.814ENROLLING_BY_INVITATIONThe Royal Children's HospitalMelbourneVictoriaAustralia NCT06867107144.96332-37.814ENROLLING_BY_INVITATIONSt. Vincent HospitalMelbourneVictoriaAustralia NCT03558958-84.5143939.12711TERMINATEDCincinnati Children's Hospital Medical CenterCincinnatiOhioUnited States NCT01772043-121.494438.58157UNKNOWNUniversity of California DavisSacramentoCaliforniaUnited States NCT01772043-122.1660837.42411UNKNOWNStanford University Medical CenterStanfordCaliforniaUnited States NCT01772043-77.0363738.89511UNKNOWNChildren's National Health SystemWashington D.C.District of ColumbiaUnited States NCT01772043-76.6121939.29038UNKNOWNJohns Hopkins University School of Medicine, Kennedy KriegerBaltimoreMarylandUnited States NCT01772043-80.8431335.22709UNKNOWNCarolinas Medical CenterCharlotteNorth CarolinaUnited States NCT01772043-78.8986235.99403UNKNOWNDuke Children's Hospital and Health CenterDurhamNorth CarolinaUnited States NCT01772043-79.9958940.44062UNKNOWNUniversity of PittsburghPittsburghPennsylvaniaUnited States NCT01772043-90.0489835.14953UNKNOWNUniversity of TennesseeMemphisTennesseeUnited States NCT01772043-114.0852951.05011UNKNOWNAlberta Children's HospitalCalgaryAlbertaCanada NCT02255552-112.0740433.44838COMPLETEDNeuromuscular Research CenterPhoenixArizonaUnited States NCT02255552-118.2436834.05223COMPLETEDDavid Geffen School of Medicine at UCLALos AngelesCaliforniaUnited States NCT02255552-121.494438.58157COMPLETEDUniversity of California, Davis Medical CenterSacramentoCaliforniaUnited States NCT02255552-117.1647232.71571COMPLETEDRady Children's Hospital, U.C. San DiegoSan DiegoCaliforniaUnited States NCT02255552-122.1660837.42411COMPLETEDStanford University School of Medicine/Medical CenterStanfordCaliforniaUnited States NCT02255552-104.8319239.72943COMPLETEDChildren's Hospital ColoradoAuroraColoradoUnited States NCT02255552-72.6850941.76371COMPLETEDConnecticut Children's Medical CenterHartfordConnecticutUnited States NCT02255552-77.0363738.89511COMPLETEDChildren's National Health SystemWashington D.C.District of ColumbiaUnited States NCT02255552-82.3248329.65163COMPLETEDThe University of Florida, Powell Gene Therapy CenterGainesvilleFloridaUnited States NCT02255552-87.1638630.35714COMPLETEDNW FL Clinical Research Group, LLCGulf BreezeFloridaUnited States NCT02255552-81.3792428.53834COMPLETEDNemours Children's HospitalOrlandoFloridaUnited States NCT02255552-84.3879833.749COMPLETEDRare Disease Research CenterAtlantaGeorgiaUnited States NCT02255552-84.3879833.749COMPLETEDEmory UniversityAtlantaGeorgiaUnited States NCT02255552-87.6500541.85003COMPLETEDAnn and Robert H. Lurie Children's Hospital of ChicagoChicagoIllinoisUnited States NCT02255552-91.5301741.66113COMPLETEDUniversity of Iowa Children's HospitalIowa CityIowaUnited States NCT02255552-94.6274639.11417COMPLETEDUniversity of Kansas Medical CenterKansas CityKansasUnited States NCT02255552-76.6121939.29038COMPLETEDKennedy Krieger InstituteBaltimoreMarylandUnited States NCT02255552-71.0597742.35843COMPLETEDMassachusetts General HospitalBostonMassachusettsUnited States NCT02255552-71.0597742.35843COMPLETEDChildren's Hospital BostonBostonMassachusettsUnited States NCT02255552-83.0457542.33143COMPLETEDChildren's Hospital of MichiganDetroitMichiganUnited States NCT02255552-93.2638444.97997COMPLETEDUniversity of MinnesotaMinneapolisMinnesotaUnited States NCT02255552-90.1978938.62727COMPLETEDSt. Louis Children's HospitalSt LouisMissouriUnited States NCT02255552-72.2517643.64229COMPLETEDDartmouth-Hitchcock Medical CenterLebanonNew HampshireUnited States NCT02255552-74.0059740.71427COMPLETEDColumbia University Medical CenterNew YorkNew YorkUnited States NCT02255552-77.6155643.15478COMPLETEDUniversity of Rochester Clinical Research CenterRochesterNew YorkUnited States NCT02255552-80.8431335.22709COMPLETEDLevine Childrens Hospital, Carolinas Medical CenterCharlotteNorth CarolinaUnited States NCT02255552-84.5143939.12711COMPLETEDCincinnati Children's Hospital Medical Center (CCHMC)CincinnatiOhioUnited States NCT02255552-82.9987939.96118COMPLETEDNationwide Children's HospitalColumbusOhioUnited States NCT02255552-122.6762145.52345COMPLETEDShriners Hospital for ChildrenPortlandOregonUnited States NCT02255552-76.6502540.28592COMPLETEDPenn State Hershey Medical CenterHersheyPennsylvaniaUnited States NCT02255552-75.1636239.95238COMPLETEDChildren's Hospital of PhiladelphiaPhiladelphiaPennsylvaniaUnited States NCT02255552-79.9958940.44062COMPLETEDChildren's Hospital of Pittsburgh of UPMCPittsburghPennsylvaniaUnited States NCT02255552-86.7844436.16589COMPLETEDVanderbilt University Medical CenterNashvilleTennesseeUnited States NCT02255552-96.8066732.78306COMPLETEDThe University of Texas Southwestern Medical CenterDallasTexasUnited States NCT02255552-95.3632729.76328COMPLETEDTexas Children's HospitalHoustonTexasUnited States NCT02255552-111.8910540.76078COMPLETEDUniversity of UtahSalt Lake CityUtahUnited States NCT02255552-122.3320747.60621COMPLETEDSeattle Children's HospitalSeattleWashingtonUnited States NCT01918384135.18334.6913UNKNOWNKobe university hospital, department of pediatricsKobeHyōgoJapan NCT01918384135.3319934.71562UNKNOWNHyogo College of MedicineNishinomiyaHyōgoJapan NCT01918384139.4850835.72603UNKNOWNNational center of neurology and psychiatryKodairaTokyoJapan NCT06581887-0.1257451.50853RECRUITINGRECRUITINGUCL GOS Institute of Child HealthLondonUnited KingdomName: Anna Kolesnik, PhD, Role: CONTACT, Phone: , Email: braindmd@ucl.ac.uk Name: Natasha Aslam, MSc, Role: CONTACT, Phone: , Email: natasha.aslam@ucl.ac.uk Name: Francesco Muntoni, Professor, Role: CONTACT, Phone: , Email: Name: David Skuse, Professor, Role: CONTACT, Phone: , Email: NCT04179409-82.9987939.96118COMPLETEDNationwide Children's HospitalColumbusOhioUnited States NCT06755138126.978437.566RECRUITINGRECRUITINGSeoul National University HospitalSeoulSouth KoreaName: Sungbae Jo Research professor, Ph. D, Role: CONTACT, Phone: 82-10-9381-2299, Email: rew277@gmail.com NCT03400852-87.1638630.35714TERMINATEDNW FL Clinical Research Group, LLCGulf BreezeFloridaUnited States NCT03400852-84.3879833.749TERMINATEDRare Disease Research, LLCAtlantaGeorgiaUnited States NCT03400852-86.7844436.16589TERMINATEDMonroe Carell Jr Childrens Hospital at VanderbiltNashvilleTennesseeUnited States NCT03400852-96.8066732.78306TERMINATEDUniversity of Texas Southwestern Medical CenterDallasTexasUnited States NCT03400852-98.4936329.42412TERMINATEDUT Health Science Center, San AntonioSan AntonioTexasUnited States NCT0340085223.3241542.69751TERMINATEDUniversity Multiprofile Hospital for Active Treatment Aleksandrovska EADSofiaBulgaria NCT0340085234.7791832.01034TERMINATEDEdith Wolfson Medical CenterHolonIsrael NCT034008529.1895145.46427TERMINATEDOspedale San Raffaele S.r.l. - PPDSMilanLombardyItaly NCT03400852-103.3474920.67738TERMINATEDHospital Civil Fray Antonio AlcaldeGuadalajaraJaliscoMexico NCT03400852-107.3942124.80209TERMINATEDNeurociencias Estudios Clinicos S.C.CuliacánSinaloaMexico NCT03400852-104.6575624.02032TERMINATEDInstituto de Investigaciones Aplicadas a la Neurociencia A.C.DurangoMexico NCT0340085220.4651344.80401TERMINATEDClinic of Neurology and Psychiatry for Children and YouthBelgradeSerbia NCT034008522.1589941.38879TERMINATEDHospital de La Santa Creu i Sant PauBarcelonaSpain NCT034008522.0880941.37732TERMINATEDHospital Sant Joan de Deu - PINEsplugues de LlobregatSpain NCT03400852-0.3796639.47391TERMINATEDHospital Universitari i Politecnic La Fe ValenciaValenciaSpain NCT0340085234.6388636.81196TERMINATEDMersin Universitesi Tip Fakultesi HastanesiMersinTurkey (Türkiye) NCT00674843-79.3986443.70643UNKNOWNThe Centre for Incurable DiseasesTorontoOntarioCanada NCT0349021411.0078349.59099COMPLETEDDepartment of Pediatrics and Adolescent Medicine, University Hospital ErlangenErlangenBavariaGermany NCT03675126-72.6850941.76371TERMINATEDConnecticut Children's Medical CenterHartfordConnecticutUnited States NCT03675126-87.1638630.35714TERMINATEDNW FL Clinical Research Group, LLCGulf BreezeFloridaUnited States NCT03675126-84.3879833.749TERMINATEDCenter for Integrative Rare Disease Research (CIRDR)AtlantaGeorgiaUnited States NCT03675126-87.6500541.85003TERMINATEDAnn & Robert H. Lurie Children's Hospital of ChicagoChicagoIllinoisUnited States NCT03675126-94.6274639.11417TERMINATEDUniversity of Kansas Medical CenterKansas CityKansasUnited States NCT03675126-79.9958940.44062TERMINATEDUPMC Children's Hospital of PittsburghPittsburghPennsylvaniaUnited States NCT03675126-96.8066732.78306TERMINATEDChildren's Medical Center DallasDallasTexasUnited States NCT03675126-81.2330442.98339TERMINATEDLondon Health Sciences CentreLondonOntarioCanada NCT0675663332.8542739.91987RECRUITINGRECRUITINGLokman Hekim UniversityAnkaraÇankayaTurkey (Türkiye)Name: Bilge T Gürel, Role: CONTACT, Phone: +905348172800, Email: bilge.taskin@lokmanhekim.edu.tr Name: Bilge Taşkın Gürel, Role: CONTACT, Phone: , Email: Name: Azize Reda Tunç, Role: CONTACT, Phone: , Email: Name: Aynur Ayşe Karaduman, Role: CONTACT, Phone: , Email: NCT0458391712.5655355.67594COMPLETEDCopenhagen Neuromuscular CenterCopenhagenDenmark NCT045839172.348848.85341COMPLETEDImagine Institut Des Maladies Genetiques Necker Enfants Malades FondationParisFrance NCT0458391712.5113341.89193COMPLETEDUniversita Cattolica Del Sacro CuoreRomeItaly NCT045839175.5714551.3828COMPLETEDStichting KempenhaegheHeezeNetherlands NCT04583917-3.7025640.4165COMPLETEDUniversidad Complutense de MadridMadridSpain NCT04583917-0.1257451.50853COMPLETEDGOSH/UCLLondonUnited Kingdom NCT04583917-5.8897954.21804COMPLETEDUniversity of Newcastle Upon TyneNewcastleUnited Kingdom NCT071011859.2945.80075NOT_YET_RECRUITINGUnit of Rare Disease- Rehabilitation DeptBosisio PariniLeccoItalyName: Maria Grazia D'Angelo, Role: CONTACT, Phone: 031877870, Email: grazia.dangelo@lanostrafamiglia.it NCT05657938-71.06242.37787COMPLETEDSolid BiosciencesCharlestownMassachusettsUnited States NCT0353434932.8542739.91987COMPLETEDHacettepe UniversityAnkaraSıhhiyeTurkey (Türkiye) NCT0564180532.9225439.96673RECRUITINGUNKNOWNHacettepe UniversityAltındağAnkaraTurkey (Türkiye)Name: Bayram Sırrı, MSc, Role: CONTACT, Phone: 05362410774, Email: bayramsirri@gmail.com Name: Öznur Yılmaz, Prof., Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: Name: İpek Gürbüz, Ass. Prof., Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: Name: Numan Bulut, PT. PhD., Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT02858362-118.2436834.05223TERMINATEDUCLA-David Geffen School of MedicineLos AngelesCaliforniaUnited States NCT02858362-104.8319239.72943TERMINATEDChildren's Hosptial of ColoradoAuroraColoradoUnited States NCT02858362-81.3792428.53834TERMINATEDNemours Children's ClinicOrlandoFloridaUnited States NCT02858362-71.0597742.35843TERMINATEDBoston Children's HospitalBostonMassachusettsUnited States NCT02858362-84.5143939.12711TERMINATEDCincinnati Children's Hospital Medical CenterCincinnatiOhioUnited States NCT02858362-122.6762145.52345TERMINATEDOregon Health and Science UniversityPortlandOregonUnited States NCT02858362-75.1636239.95238TERMINATEDChildren's Hospital of PhiladelphiaPhiladelphiaPennsylvaniaUnited States NCT02858362-86.7844436.16589TERMINATEDVanderbilt University Medical CenterNashvilleTennesseeUnited States NCT02858362-111.8910540.76078TERMINATEDUniversity of Utah Hospital and ClinicsSalt Lake CityUtahUnited States NCT02858362-1.8998352.48142TERMINATEDHeart of England NHS Foundation Trust - Heartlands HospitalBirminghamUnited Kingdom NCT02858362-2.5966551.45523TERMINATEDBristol Children's HospitalBristolUnited Kingdom NCT028583620.1166752.2TERMINATEDAddenbrooke's HospitalCambridgeUnited Kingdom NCT02858362-2.9779453.41058TERMINATEDAlder Hey Children's NHS Foundation TrustLiverpoolUnited Kingdom NCT02858362-0.1257451.50853TERMINATEDGreat Ormond Street Hospital for Children NHS Foundation TrustLondonUnited Kingdom NCT02858362-2.2374353.48095TERMINATEDRoyal Manchester Children's Hospital - Central Manchester University Hospitals NHS Foundation TrustManchesterUnited Kingdom NCT02858362-5.8897954.21804TERMINATEDThe Freeman Hospital, Newcastle Upon Tyne HospitalsNewcastleUnited Kingdom NCT0633766912.5983642.78235RECRUITINGUNKNOWNDept. of Neurology, IRCCS Ospedale San RaffaeleMilanItalyName: Stefano C Previtali, MD, Role: CONTACT, Phone: 00390226433036, Email: neuromuscolare@hsr.it NCT06900049121.4580631.22222RECRUITINGRECRUITINGShanghai Children's Medical Center, Shanghai Jiao Tong University School of MedicineShanghaiShanghai MunicipalityChinaName: Jiwen Wang, Role: CONTACT, Phone: +86 189 1661 3192, Email: wangjiwen@scmc.com.cn Name: Jiwen Wang, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT02167217-121.494438.58157COMPLETEDUniversity of California DavisSacramentoCaliforniaUnited States NCT02167217-81.3792428.53834COMPLETEDNemours HospitalOrlandoFloridaUnited States NCT02167217-87.6500541.85003COMPLETEDLaurie Children's Hospital Of ChicagoChicagoIllinoisUnited States NCT02167217-90.1978938.62727COMPLETEDWashington University in Saint LouisSt LouisMissouriUnited States NCT02167217-82.9987939.96118COMPLETEDResearch Institute Center for Gene Therapy at Nationwide Children's HospitalColumbusOhioUnited States NCT02167217-96.8066732.78306COMPLETEDUniversity of Texas South Western Medical Center of DallasDallasTexasUnited States NCT01874275-95.3632729.76328COMPLETEDAlan NeuromedicalHoustonTexasUnited States NCT06450639-92.2895934.74648ACTIVE_NOT_RECRUITINGArkansas Children's HospitalLittle RockArkansasUnited States NCT06450639-121.494438.58157ACTIVE_NOT_RECRUITINGUniversity of California Davis Medical CenterSacramentoCaliforniaUnited States NCT06450639-84.3879833.749ACTIVE_NOT_RECRUITINGChildren's Healthcare of Atlanta Center for Advanced PediatricsAtlantaGeorgiaUnited States NCT06450639-85.6680942.96336ACTIVE_NOT_RECRUITINGCorewell HealthGrand RapidsMichiganUnited States NCT06450639-97.0969633.01457ACTIVE_NOT_RECRUITINGNeurology Rare Disease CenterFlower MoundTexasUnited States NCT06450639-76.2852236.84681ACTIVE_NOT_RECRUITINGChild's Hosp King's DaughtersNorfolkVirginiaUnited States NCT0645063912.5686255.70968ACTIVE_NOT_RECRUITINGRigshospitalet;Klinik for Børn og Unge med Hjerne- og NervesygdommeKøbenhavn ØDenmark NCT0645063912.5113341.89193ACTIVE_NOT_RECRUITINGPoliclinico Agostino GemelliRomeLazioItaly NCT064506399.1895145.46427ACTIVE_NOT_RECRUITINGFondazione IRCCS Istituto Neurologico ?Carlo Besta?MilanLombardyItaly NCT0645063918.6491254.35227ACTIVE_NOT_RECRUITINGUniwersyteckie Centrum KliniczneGdanskPoland NCT0645063919.4739551.77058ACTIVE_NOT_RECRUITINGInstytut Centrum Zdrowia Matki PolkiLodzPoland NCT0645063921.0117852.22977ACTIVE_NOT_RECRUITINGUniwersyteckie Centrum Kliniczne WUM, Centralny Szpital KlinicznyWarsawPoland NCT06450639-2.4597436.83814ACTIVE_NOT_RECRUITINGHospital Universitario Torrecardenas;Servicio de NeurologiaAlmeríaSpain NCT06450639-0.3796639.47391ACTIVE_NOT_RECRUITINGHospital Universitario la FeValenciaSpain NCT0645063924.7124848.92312ACTIVE_NOT_RECRUITINGIvano-Frankivsk Regional Children Clinical HospitalIvano-FrankivskKharkiv GovernorateUkraine NCT0645063930.523850.45466ACTIVE_NOT_RECRUITINGOhmatdyt - National Specialized children's hospital of MoH of UkraineKyivUkraine NCT0645063924.0232449.83826ACTIVE_NOT_RECRUITINGLvivska oblasna tsentralna likarniaLvivUkraine NCT01247207-112.0740433.44838COMPLETEDPhoenix Childrens HospitalPhoenixArizonaUnited States NCT01247207-118.2436834.05223COMPLETEDChildren's Hospital of Los AngelesLos AngelesCaliforniaUnited States NCT01247207-118.2436834.05223COMPLETEDUCLALos AngelesCaliforniaUnited States NCT01247207-122.1430237.44188COMPLETEDStanford UniversityPalo AltoCaliforniaUnited States NCT01247207-121.494438.58157COMPLETEDUniversity of California-DavisSacramentoCaliforniaUnited States NCT01247207-122.4194237.77493COMPLETEDUniversity of CA, San Francisco-Benioff Children's HospitalSan FranciscoCaliforniaUnited States NCT01247207-104.8319239.72943COMPLETEDChildren's Hospital Colorado - Center for Cancer and Blood DisordersAuroraColoradoUnited States NCT01247207-87.1638630.35714COMPLETEDChild Neurology Center of NW Florida NWGulf BreezeFloridaUnited States NCT01247207-84.3879833.749COMPLETEDRare Disease Research, LLCAtlantaGeorgiaUnited States NCT01247207-87.6500541.85003COMPLETEDRush Univ Medical CenterChicagoIllinoisUnited States NCT01247207-91.5301741.66113COMPLETEDUniversity of Iowa Children's HospitalIowa CityIowaUnited States NCT01247207-94.6274639.11417COMPLETEDUniversity of Kansas Medical CenterKansas CityKansasUnited States NCT01247207-71.0597742.35843COMPLETEDChildren's Hospital of Boston/Harvard Medical SchoolBostonMassachusettsUnited States NCT01247207-83.7408842.27756COMPLETEDUniversity of MichiganAnn ArborMichiganUnited States NCT01247207-93.2638444.97997COMPLETEDUniversity of MinnesotaMinneapolisMinnesotaUnited States NCT01247207-90.1978938.62727COMPLETEDWashington University Medical SchoolSt LouisMissouriUnited States NCT01247207-74.0059740.71427COMPLETEDColumbia University Pediatric Neuromuscular CenterNew YorkNew YorkUnited States NCT01247207-78.8986235.99403COMPLETEDDuke University Medical CenterDurhamNorth CarolinaUnited States NCT01247207-84.5143939.12711COMPLETEDCincinnati Childrens Hospital Medical CenterCincinnatiOhioUnited States NCT01247207-82.9987939.96118COMPLETEDNationwide Children's HospitalColumbusOhioUnited States NCT01247207-122.6762145.52345COMPLETEDShriners Hospital for Children-PortlandPortlandOregonUnited States NCT01247207-75.1636239.95238COMPLETEDChildren's Hospital of PhiladelphiaPhiladelphiaPennsylvaniaUnited States NCT01247207-79.9958940.44062COMPLETEDUniversity of Pittsburgh Medical CenterPittsburghPennsylvaniaUnited States NCT01247207-96.8066732.78306COMPLETEDChildrens Medical Center DallasDallasTexasUnited States NCT01247207-95.3632729.76328COMPLETEDTexas Children's HospitalHoustonTexasUnited States NCT01247207-98.4936329.42412COMPLETEDUniversity of Texas Health Science Center at San AntonioSan AntonioTexasUnited States NCT01247207-111.8910540.76078COMPLETEDUniversity of UtahSalt Lake CityUtahUnited States NCT01247207-76.2852236.84681COMPLETEDChildren's Hospital of the King's DaughtersNorfolkVirginiaUnited States NCT01247207-122.3320747.60621COMPLETEDSeattle Children's HospitalSeattleWashingtonUnited States NCT01247207-114.0852951.05011COMPLETEDAlberta Children's HospitalCalgaryAlbertaCanada NCT01247207-123.1193449.24966COMPLETEDBritish Columbia Children's HospitalVancouverBritish ColumbiaCanada NCT01247207-81.2330442.98339COMPLETEDLondon Health Sciences CentreLondonOntarioCanada NCT01247207-75.6981245.41117COMPLETEDChildren's Hospital of East OntarioOttawaOntarioCanada NCT01247207-71.2145446.81228COMPLETEDCHU de Québec - Université LavalQuébecCanada NCT019950327.5732747.55839COMPLETEDUniversity Children's HospitalBaselCanton of Basel-CitySwitzerland NCT039634535.3241560.39299COMPLETEDDepartment of Physiotherapy. Haukeland University HospitalBergenNorwayNorway NCT031272419.2945.80075COMPLETEDIRCCS E. Medea - La Nostra FamigliaBosisio PariniLCItaly NCT031272419.2763245.76963COMPLETEDVilla BerettaCosta MasnagaLCItaly NCT01182324-77.1002638.98067COMPLETEDNational Human Genome Research Institute (NHGRI), 9000 Rockville PikeBethesdaMarylandUnited States NCT0720933235.9450331.95522ENROLLING_BY_INVITATIONIstiklal Hospital/ Clinical Research UnitAmmanJordan NCT0720933235.9450331.95522ENROLLING_BY_INVITATIONThe Specialty Hospital (TSH)/ Advanced Clinical CenterAmmanJordan NCT07209332-1.2197451.75737ENROLLING_BY_INVITATIONOxford Children's Hospital, Oxford University Hospitals NHS Foundation TrustHeadingtonOxfordUnited Kingdom NCT01491555-71.0597742.35843COMPLETEDChildren's Hospital BostonBostonMassachusettsUnited States NCT02421523-82.3248329.65163COMPLETEDUniversity of FloridaGainesvilleFloridaUnited States NCT02194725-77.1002638.98067COMPLETEDNational Human Genome Research Institute (NHGRI), 9000 Rockville PikeBethesdaMarylandUnited States NCT07092540-77.6155643.15478RECRUITINGRECRUITINGUniversity of RochesterRochesterNew YorkUnited States NCT01978366-121.494438.58157TERMINATEDUniversity of California, Davis Medical CenterSacramentoCaliforniaUnited States NCT01978366-76.6121939.29038TERMINATEDKennedy Krieger Institute, Johns Hopkins School of MedicineBaltimoreMarylandUnited States NCT01978366-90.1978938.62727TERMINATEDWashington University School of MedicineSt LouisMissouriUnited States NCT01978366-84.5143939.12711TERMINATEDCincinnati Children's Hospital Medical CenterCincinnatiOhioUnited States NCT01978366-82.9987939.96118TERMINATEDNationwide Children's HospitalColumbusOhioUnited States NCT0756527228.9496641.01384ENROLLING_BY_INVITATIONIstanbul University - CerrahpasaIstanbulTurkey (Türkiye) NCT03167255-121.494438.58157COMPLETEDUC DavisSacramentoCaliforniaUnited States NCT03167255-87.6500541.85003COMPLETEDLurie Children's HospitalChicagoIllinoisUnited States NCT03167255-90.1978938.62727COMPLETEDWashington UniversitySt LouisMissouriUnited States NCT03167255-78.8986235.99403COMPLETEDDuke University Medical CenterDurhamNorth CarolinaUnited States NCT03167255-77.4602637.55376COMPLETEDChildren's Hospital of Richmond at VCURichmondVirginiaUnited States NCT03167255-114.0852951.05011COMPLETEDAlberta Children's HospitalCalgaryAlbertaCanada NCT02704325-82.9987939.96118WITHDRAWNNationwide Children's HospitalColumbusOhioUnited States NCT05126758-112.0740433.44838ACTIVE_NOT_RECRUITINGPhoenix Children's HospitalPhoenixArizonaUnited States NCT05126758-92.2895934.74648ACTIVE_NOT_RECRUITINGArkansas Children's HospitalLittle RockArkansasUnited States NCT05126758-117.274232.84727ACTIVE_NOT_RECRUITINGUCSD Altman Clinical and Translational Research InstituteLa JollaCaliforniaUnited States NCT05126758-118.2436834.05223ACTIVE_NOT_RECRUITINGChildren's Hospital of Los Angeles, Division of NeurologyLos AngelesCaliforniaUnited States NCT05126758-121.494438.58157ACTIVE_NOT_RECRUITINGUniversity of California, DavisSacramentoCaliforniaUnited States NCT05126758-104.8319239.72943ACTIVE_NOT_RECRUITINGChildren's Hospital ColoradoAuroraColoradoUnited States NCT05126758-84.3879833.749ACTIVE_NOT_RECRUITINGRare Disease Research, LLCAtlantaGeorgiaUnited States NCT05126758-87.6500541.85003ACTIVE_NOT_RECRUITINGAnn & Robert H. Lurie Children's Hospital of ChicagoChicagoIllinoisUnited States NCT05126758-91.5301741.66113ACTIVE_NOT_RECRUITINGUniversity of Iowa Hospitals and ClinicsIowa CityIowaUnited States NCT05126758-71.0597742.35843ACTIVE_NOT_RECRUITINGBoston Children's HospitalBostonMassachusettsUnited States NCT05126758-92.3340738.95171ACTIVE_NOT_RECRUITINGUniversity of Missouri Health CareColumbiaMissouriUnited States NCT05126758-90.1978938.62727ACTIVE_NOT_RECRUITINGSaint Louis Children's HospitalSt LouisMissouriUnited States NCT05126758-79.0997336.07542ACTIVE_NOT_RECRUITINGRare Disease Research NC LLCHillsboroughNorth CarolinaUnited States NCT05126758-81.5190141.08144ACTIVE_NOT_RECRUITINGAkron Children's HospitalAkronOhioUnited States NCT05126758-84.5143939.12711ACTIVE_NOT_RECRUITINGCincinnati Children's Hospital Medical CenterCincinnatiOhioUnited States NCT05126758-96.8066732.78306ACTIVE_NOT_RECRUITINGChildren's Health Specialty Care PavilionDallasTexasUnited States NCT05126758-111.8910540.76078ACTIVE_NOT_RECRUITINGUniversity of Utah HospitalSalt Lake CityUtahUnited States NCT05126758-78.4766838.02931ACTIVE_NOT_RECRUITINGUniversity of Virginia Children's HospitalCharlottesvilleVirginiaUnited States NCT05126758-122.3320747.60621ACTIVE_NOT_RECRUITINGSeattle Children'sSeattleWashingtonUnited States NCT05126758-87.9064743.0389ACTIVE_NOT_RECRUITINGChildren's WisconsinMilwaukeeWisconsinUnited States NCT02310906-71.0597742.35843COMPLETEDBoston Children's HospitalBostonMassachusettsUnited States NCT023109062.348848.85341COMPLETEDInstitute de MyologieParisFrance NCT0231090612.5113341.89193COMPLETEDPoliclinico Universitario A GemelliRomeItaly NCT02310906-0.1257451.50853COMPLETEDGreat Ormond Street Hospital for Children NHS Foundation TrustLondonUnited Kingdom NCT02310906-5.8897954.21804COMPLETEDNewcastle University HospitalNewcastleUnited Kingdom NCT05096221-92.2895934.74648COMPLETEDArkansas Children'sLittle RockArkansasUnited States NCT05096221-117.274232.84727COMPLETEDUC San Diego Altman Clinical and Translational Research InstituteLa JollaCaliforniaUnited States NCT05096221-118.2436834.05223COMPLETEDUCLA Medical CenterLos AngelesCaliforniaUnited States NCT05096221-122.1430237.44188COMPLETEDLucile Packard Children's Hospital at StanfordPalo AltoCaliforniaUnited States NCT05096221-121.494438.58157COMPLETEDUniversity of California, DavisSacramentoCaliforniaUnited States NCT05096221-104.8319239.72943COMPLETEDChildren's Hospital ColoradoAuroraColoradoUnited States NCT05096221-82.3248329.65163COMPLETEDUniversity of FloridaGainesvilleFloridaUnited States NCT05096221-87.6500541.85003COMPLETEDLurie Children's Hospital of ChicagoChicagoIllinoisUnited States NCT05096221-91.5301741.66113COMPLETEDUniversity of Iowa Stead Family Children's HospitalIowa CityIowaUnited States NCT05096221-76.6121939.29038COMPLETEDThe Johns Hopkins HospitalBaltimoreMarylandUnited States NCT05096221-71.0597742.35843COMPLETEDBoston Children's HospitalBostonMassachusettsUnited States NCT05096221-90.1978938.62727COMPLETEDWashington University of St. LouisSt LouisMissouriUnited States NCT05096221-74.0059740.71427COMPLETEDColumbia University/NYPHNew YorkNew YorkUnited States NCT05096221-77.6155643.15478COMPLETEDUniversity of RochesterRochesterNew YorkUnited States NCT05096221-78.8986235.99403COMPLETEDDuke University Medical Center, Lenox Baker Children's HospitalDurhamNorth CarolinaUnited States NCT05096221-82.9987939.96118COMPLETEDNationwide Children's HospitalColumbusOhioUnited States NCT05096221-122.6762145.52345COMPLETEDOregon Health & Science UniversityPortlandOregonUnited States NCT05096221-75.1636239.95238COMPLETEDThe Children's Hospital of PhiladelphiaPhiladelphiaPennsylvaniaUnited States NCT05096221-86.7844436.16589COMPLETEDVanderbilt University Medical CenterNashvilleTennesseeUnited States NCT05096221-96.8066732.78306COMPLETEDUniversity of Texas SouthwesternDallasTexasUnited States NCT05096221-111.8910540.76078COMPLETEDUniversity of Utah HospitalSalt Lake CityUtahUnited States NCT05096221-76.2852236.84681COMPLETEDChildren's Hospital of the King's DaughtersNorfolkVirginiaUnited States NCT05096221-87.9064743.0389COMPLETEDChildren's WisconsinMilwaukeeWisconsinUnited States NCT050962213.7166751.05COMPLETEDUniversity Hospital GhentGhentBelgium NCT0509622112.5338147.795COMPLETEDLMU - Klinikum der Universitaet Muenchen - Kinderklinik undBayernGermany NCT050962217.0122851.45657COMPLETEDUniversitätsklinikum Essen - Klinik für Kinderheilkunde IEssenGermany NCT050962219.9930253.55073COMPLETEDUniversity Hospital Hamburg- EppendorfHamburgGermany NCT05096221114.1833322.31667COMPLETEDHong Kong Children's HospitalKowloonHong Kong NCT050962218.9443944.40478COMPLETEDIRCCS Istituto G.Gaslini, U.O.GenoaItaly NCT0509622112.5983642.78235COMPLETEDUOC Neurologia, Fondazione IRCCS Ca' Granda Ospedale Maggiore PoliclinicoMilanItaly NCT0509622111.1064244.99364COMPLETEDUOC Neuropsichiatria Infantile, Area Salute del Bambino, Fondazione Policlinico Universitario A. Gamelli IRCCSRomaItaly NCT05096221135.18334.6913COMPLETEDKobe University HospitalKobeJapan NCT05096221139.6917135.6895COMPLETEDNational Center for Child Health and DevelopmentTokyoJapan NCT05096221139.6917135.6895COMPLETEDTokyo Women's Medical University Hospital - PediatricsTokyoJapan NCT05096221139.6917135.6895COMPLETEDNational Center of Neurology and PsychiatryTokyoJapan NCT05096221-0.3796639.47391COMPLETEDHospital Universitari i Politécnico La FeValenciaComunidad ValenciaSpain NCT050962212.1589941.38879COMPLETEDHospital Sant Joan de DéuBarcelonaSpain NCT05096221120.3133322.61626COMPLETEDKaohsiung Medical University Chung-Ho Memorial HospitalKaohsiung CityTaiwan NCT05096221121.5263925.05306COMPLETEDNational Taiwan University HospitalTaipeiTaiwan NCT05096221-1.2197451.75737COMPLETEDOxford University Hospitals NHS Foundation TrustHeadingtonOxfordUnited Kingdom NCT05096221-0.1257451.50853COMPLETEDGreat Ormond Street Hospital for Children NHS Foundation TrustLondonUnited Kingdom NCT05096221-1.6139654.97328COMPLETEDThe Newcastle Upon Tyne NHS Hospital NHS Foundation Trust, Royal Victoria InfirmaryNewcastle upon TyneUnited Kingdom NCT01753804-121.494438.58157TERMINATEDUC Davis Health SystemSacramentoCaliforniaUnited States NCT01753804-84.5143939.12711TERMINATEDCincinnati Children's Hospital Medical CenterCincinnatiOhioUnited States NCT01753804-82.9987939.96118TERMINATEDNationwide Children's HospitalColumbusOhioUnited States NCT01753804-58.37723-34.61315TERMINATEDHospital de Pediatria Prof Dr Juan P GarrahanBuenos AiresArgentina NCT017538043.7166751.05TERMINATEDUniversitair ZiekenhuisGhentBelgium NCT017538044.7009350.87959TERMINATEDUniversitair Ziekenhuis LeuvenLeuvenBelgium NCT01753804-46.63611-23.5475TERMINATEDHospital das Clinicas da Faculdade de Medicina da USPSão PauloBrazil NCT017538041.4436743.60426TERMINATEDCHU Hopital des enfantsToulouseFrance NCT017538047.0122851.45657TERMINATEDUniversitaetsklinikum EssenEssenGermany NCT017538047.8522247.9959TERMINATEDUniversitaetsklinikum FreiburgFreiburg im BreisgauGermany NCT0175380415.5525638.19394TERMINATEDAzienda Ospedaliera Universitaria Policlinico G. MartinoMessinaItaly NCT0175380412.5113341.89193TERMINATEDPoliclinico Univsersitario Agostino GemelliRomeItaly NCT017538044.4930652.15833TERMINATEDLeids Universitair Medisch CentrumLeidenNetherlands NCT017538045.8527851.8425TERMINATEDUMC St. RadboudNijmegenNetherlands NCT0175380411.9667957.70716TERMINATEDDrottning Silvias Barn- ochungdomssjukhusGothenburgSweden NCT0175380432.8542739.91987TERMINATEDHacettepe University Medical FacultyAnkaraTurkey (Türkiye) NCT0520908732.8542739.91987COMPLETEDHacettepe UniversityAnkaraSıhhiyeTurkey (Türkiye) NCT03179631-112.0740433.44838COMPLETEDPhoenix Childrens HospitalPhoenixArizonaUnited States NCT03179631-118.2436834.05223COMPLETEDChildren's Hospital of Los AngelesLos AngelesCaliforniaUnited States NCT03179631-122.270837.80437COMPLETEDUniversity of California, San Francisco (UCSF) - Benioff Children's Hospital - OaklandOaklandCaliforniaUnited States NCT03179631-122.1430237.44188COMPLETEDStanford University Medical CenterPalo AltoCaliforniaUnited States NCT03179631-121.494438.58157COMPLETEDUniversity of California (UC) Davis Medical CenterSacramentoCaliforniaUnited States NCT03179631-117.2897734.10834COMPLETEDLoma Linda University Children's HospitalSan BernardinoCaliforniaUnited States NCT03179631-87.1638630.35714COMPLETEDNorthwest Florida Clinical Research Group, LLCGulf BreezeFloridaUnited States NCT03179631-86.1580439.76838COMPLETEDIndiana University Health - Riley Child NeurologyIndianapolisIndianaUnited States NCT03179631-94.6274639.11417COMPLETEDUniversity of Kansas Medical CenterKansas CityKansasUnited States NCT03179631-83.7408842.27756COMPLETEDUniversity of Michigan - CS Mott Children's HospitalAnn ArborMichiganUnited States NCT03179631-83.0457542.33143COMPLETEDChildren's Hospital of MichiganDetroitMichiganUnited States NCT03179631-93.2638444.97997COMPLETEDUniversity of MinnesotaMinneapolisMinnesotaUnited States NCT03179631-74.0059740.71427COMPLETEDColumbia University College of Physicians & SurgeonsNew YorkNew YorkUnited States NCT03179631-84.5143939.12711COMPLETEDCincinnati Children's Hospital Medical CenterCincinnatiOhioUnited States NCT03179631-122.6762145.52345COMPLETEDShriners Hospital for ChildrenPortlandOregonUnited States NCT03179631-79.9958940.44062COMPLETEDUniversity of Pittsburgh School of MedicinePittsburghPennsylvaniaUnited States NCT03179631-97.3208532.72541COMPLETEDCook Childrens Medical CenterFort WorthTexasUnited States NCT03179631-95.3632729.76328COMPLETEDTexas Children's HospitalHoustonTexasUnited States NCT03179631-98.4936329.42412COMPLETEDUniversity of Texas Health Science Center at San AntonioSan AntonioTexasUnited States NCT03179631-111.8910540.76078COMPLETEDUniversity Of UtahSalt Lake CityUtahUnited States NCT03179631-76.2852236.84681COMPLETEDChildren's Hospital of the King's DaughtersNorfolkVirginiaUnited States NCT03179631-122.3320747.60621COMPLETEDSeattle Children's HospitalSeattleWashingtonUnited States NCT03179631150.98768-33.80383COMPLETEDThe Childrens Hospital at WestmeadWestmeadNew South WalesAustralia NCT03179631144.95-37.78333COMPLETEDThe Royal Childrens HospitalParkvilleVictoriaAustralia NCT03179631115.8073-31.98184COMPLETEDPerth Children's HospitalNedlandsWestern AustraliaAustralia NCT03179631153.02049-27.48034COMPLETEDQueensland Children's HospitalSouth BrisbaneAustralia NCT03179631-43.93778-19.92083COMPLETEDHospital de Clínicas da Universidade Federal de Minas GeraisBelo HorizonteBrazil NCT03179631-43.18223-22.90642COMPLETEDUniversidade Federal do Rio de JaneiroRio de JaneiroBrazil NCT03179631-46.63611-23.5475COMPLETEDHospital das Clinicas da Faculdade de Medicina da Universidade de Sao Paulo - FMUSPSão PauloBrazil NCT0317963123.3241542.69751COMPLETEDUMHAT SofiamedSofiaBulgaria NCT03179631-81.2330442.98339COMPLETEDChildrens Hospital London Health Sciences CentreLondonOntarioCanada NCT03179631-75.6981245.41117COMPLETEDChildrens Hospital of Eastern OntarioOttawaOntarioCanada NCT03179631116.3972339.9075COMPLETEDGeneral Hospital of Chinese Armed Police ForcesBeijingChina NCT03179631119.3061126.06139COMPLETEDThe First Affiliated Hospital of Fujian Medical UniversityFuzhouChina NCT03179631120.1802132.92741COMPLETEDXiangya Hospital Central South UniversityHunanChina NCT03179631121.4580631.22222COMPLETEDChildren's Hospital of Fudan UniversityShanghaiChina NCT03179631114.068322.54554COMPLETEDShenzhen Children's HospitalShenzhenChina NCT03179631114.1746922.27832COMPLETEDQueen Mary HospitalHong KongHong Kong NCT0317963172.5872723.02579COMPLETEDPanchshil HospitalAhmedabadGujaratIndia NCT0317963177.5936912.97194COMPLETEDNational Institute of Mental Health and NeurosciencesBengaluruKarnatakaIndia NCT0317963172.8519.03333COMPLETEDP.D. Hinduja HospitalMāhīmMaharashtraIndia NCT0317963180.2784713.08784COMPLETEDApollo Children's Hospital ChennaiChennaiTamil NaduIndia NCT0317963179.1325512.9184COMPLETEDChristian Medical College Hospital VelloreVelloreTamil NaduIndia NCT0317963178.4563617.38405COMPLETEDNizam's Institute of Medical Sciences (NIMS)HyderabadTelanganaIndia NCT0317963188.3630422.56263COMPLETEDApollo Gleneagles HospitalKolkataWest BengalIndia NCT0317963176.788430.73629COMPLETEDPostgraduate Institute of Medical Education and ResearchChandigarhIndia NCT0317963177.214828.62137COMPLETEDAll India Institute of Medical SciencesNew DelhiIndia NCT03179631101.686533.1412COMPLETEDHospital Tunku Azizah Kuala LumpurKuala LumpurMalaysia NCT03179631101.99532.7867COMPLETEDUniversity Malaya Medical Centre (UMMC)PantaiMalaysia NCT03179631-106.0888928.63528COMPLETEDHospital Angeles ChihuahuaChihuahua CityMexico NCT03179631-99.1276619.42847COMPLETEDInstituto Nacional de PediatríaMexico CityMexico NCT03179631-99.1620619.29513COMPLETEDInstituto Nacional de RehabilitacionTlalpanMexico NCT0317963121.0117852.22977COMPLETEDSamodzielny Publiczny Centralny Szpital Kliniczny w WarszawieWarsawPoland NCT03179631-66.1057218.46633COMPLETEDUniversity of Puerto Rico - School of MedicineSan JuanPuerto Rico NCT0317963137.6178155.75204COMPLETEDRussian National Research Medical University n.a. N.I.Pirogov, structural branch - Research Clinical Institute of Pediatrics n.a. Academician Yu. E. VeltishchevMoscowRussia NCT0317963130.3141359.93863COMPLETED"Saint Petersburg State Paediatric Medical University" based at Consultative and Diagnostic CentreSaint PetersburgRussia NCT03179631129.0335835.34199COMPLETEDPusan National University Yangsan HospitalYangsanGyeongsangnam-doSouth Korea NCT03179631126.978437.566COMPLETEDSamsung Medical CenterSeoulSouth Korea NCT03179631126.978437.566COMPLETEDSeoul National University HospitalSeoulSouth Korea NCT03179631120.3133322.61626COMPLETEDKaohsiung Medical University Chung-Ho Memorial HospitalKaohsiung CityTaiwan NCT03179631121.5263925.05306COMPLETEDNational Taiwan University HospitalTaipeiTaiwan NCT03179631100.5014413.75398COMPLETEDSiriraj HospitalBangkokThailand NCT0317963128.9496641.01384COMPLETEDIstanbul University- Instanbul Medical FacultyIstanbulTurkey (Türkiye) NCT03362502-118.2436834.05223TERMINATEDMRI Research CenterLos AngelesCaliforniaUnited States NCT03362502-118.2436834.05223TERMINATEDReed Neurological Research CenterLos AngelesCaliforniaUnited States NCT03362502-118.2436834.05223TERMINATEDRonald Reagan UCLA Medical Center (Investigational Drug Section)Los AngelesCaliforniaUnited States NCT03362502-118.2436834.05223TERMINATEDRonald Reagan UCLA Medical Center - Interventional RadiologyLos AngelesCaliforniaUnited States NCT03362502-118.2436834.05223TERMINATEDRonald Reagan UCLA Medical Center Drug Information CenterLos AngelesCaliforniaUnited States NCT03362502-118.2436834.05223TERMINATEDUCLA (David Geffen School of Medicine)Los AngelesCaliforniaUnited States NCT03362502-118.2436834.05223TERMINATEDUCLA Children's Heart CenterLos AngelesCaliforniaUnited States NCT03362502-118.2436834.05223TERMINATEDUCLA Mattel Children's HospitalLos AngelesCaliforniaUnited States NCT03362502-118.2436834.05223TERMINATEDUCLA Medical CenterLos AngelesCaliforniaUnited States NCT03362502-118.2436834.05223TERMINATEDUCLA Outpatient Surgery CenterLos AngelesCaliforniaUnited States NCT03362502-78.8986235.99403TERMINATEDDuke NeurologyDurhamNorth CarolinaUnited States NCT03362502-78.8986235.99403TERMINATEDDuke University Medical Center, Lenox Baker Children's HospitalDurhamNorth CarolinaUnited States NCT03362502-78.8986235.99403TERMINATEDBiospecimen Repository & Processing Core - BPRCDurhamNorth CarolinaUnited States NCT03362502-78.8986235.99403TERMINATEDDuke Cardiovascular Magnetic Resonance CenterDurhamNorth CarolinaUnited States NCT03362502-78.8986235.99403TERMINATEDDuke Children's Hospital & Health CenterDurhamNorth CarolinaUnited States NCT03362502-78.8986235.99403TERMINATEDDuke University Hospital Investigational Drug Services (IDS) PharmacyDurhamNorth CarolinaUnited States NCT03362502-111.8910540.76078TERMINATEDCCTS Clinical Research CenterSalt Lake CityUtahUnited States NCT03362502-111.8910540.76078TERMINATEDUniversity of Utah Imaging and Neurosciences CenterSalt Lake CityUtahUnited States NCT03362502-111.8910540.76078TERMINATEDUniversity of Utah Hospital & Clinics Investigational Drug ServicesSalt Lake CityUtahUnited States NCT03362502-111.8910540.76078TERMINATEDUniversity of Utah HospitalSalt Lake CityUtahUnited States NCT03362502-111.8910540.76078TERMINATEDPrimary Children's HospitalSalt Lake CityUtahUnited States NCT03362502-111.8910540.76078TERMINATEDUniversity of Utah Clinical Neurosciences CenterSalt Lake CityUtahUnited States NCT04322357-82.3248329.65163COMPLETEDUniversity of FloridaGainesvilleFloridaUnited States NCT020780766.1711448.66115COMPLETEDService de médecin nucléaire / CHU Nancy BraboisVandœuvre-lès-NancyFrance NCT02286947-118.2436834.05223COMPLETEDRonald Reagan UCLA Medical CenterLos AngelesCaliforniaUnited States NCT02286947-121.494438.58157COMPLETEDUniversity of California, Davis Medical CenterSacramentoCaliforniaUnited States NCT02286947-91.5301741.66113COMPLETEDUniversity of Iowa Children's HospitalIowa CityIowaUnited States NCT02286947-76.6121939.29038COMPLETEDKennedy Krieger InstituteBaltimoreMarylandUnited States NCT02286947-71.0597742.35843COMPLETEDMassachusetts General HospitalBostonMassachusettsUnited States NCT02286947-90.1978938.62727COMPLETEDSt. Louis Children's HospitalSt LouisMissouriUnited States NCT02286947-77.6155643.15478COMPLETEDUniversity of Rochester Medical CenterRochesterNew YorkUnited States NCT02286947-82.9987939.96118COMPLETEDNationwide Children's HospitalColumbusOhioUnited States NCT02286947-122.3320747.60621COMPLETEDSeattle Children's HospitalSeattleWashingtonUnited States NCT07287189-118.2436834.05223RECRUITINGRECRUITINGUniversity of California Los AngelesLos AngelesCaliforniaUnited StatesName: Denisse Velazquez, Role: CONTACT, Phone: 310-825-3264, Email: Denissevelazquez@mednet.ucla.edu NCT07287189-104.8319239.72943RECRUITINGRECRUITINGColorado Children'sAuroraColoradoUnited StatesName: Nana Welnick, Role: CONTACT, Phone: 720-777-8608, Email: Nanastasia.Welnick@childrenscolorado.org NCT07287189-87.6500541.85003RECRUITINGRECRUITINGLurie Children'sChicagoIllinoisUnited StatesName: Alka Maheshwari, Role: CONTACT, Phone: 312-227-3813, Email: amaheshwari@luriechildrens.org NCT07287189-71.8022942.26259RECRUITINGRECRUITINGUMass Memorial Medical CenterWorcesterMassachusettsUnited StatesName: Sarah Figueira, Role: CONTACT, Phone: 508-856-1604, Email: Sarah.figueira@umassmed.edu NCT07287189-90.1978938.62727RECRUITINGRECRUITINGWashington UniversitySt LouisMissouriUnited StatesName: Natalie Goedeker, Role: CONTACT, Phone: 314-362-4919, Email: NeuromusclePediatricResearch@wustl.edu NCT07287189-82.9987939.96118RECRUITINGRECRUITINGNationwide Children's HospitalColumbusOhioUnited StatesName: Jeremy Thompson, Role: CONTACT, Phone: 614-355-2923, Email: jeremy.thompson@nationwidechildrens.org NCT07287189-122.3320747.60621RECRUITINGRECRUITINGSeattle Children'sSeattleWashingtonUnited StatesName: Marissa Robertson, Role: CONTACT, Phone: 206-987-5457, Email: marissa.robertson@seattlechildrens.org NCT07287189150.98768-33.80383NOT_YET_RECRUITINGRECRUITINGChildren's Hospital at WestmeadWestmeadNew South WalesAustraliaName: Natasha Edirisinghege, Role: CONTACT, Phone: , Email: Natasha.Edirisinghege@health.nsw.gov.au NCT07287189144.96332-37.814RECRUITINGRECRUITINGRoyal Children's Hospital MelbourneMelbourneVictoriaAustraliaName: Ian Woodcock, MD, Role: CONTACT, Phone: , Email: neurology.department@rch.org.au NCT072871895.5674950.63373NOT_YET_RECRUITINGRECRUITINGHôpital De La Citadelle (CHR)LiègeLiègeBelgiumName: Laurie Medard, Role: CONTACT, Phone: , Email: laurie.medard@citadelle.be NCT072871893.7166751.05NOT_YET_RECRUITINGRECRUITINGUZ GentGhentOost-VlaanderenBelgiumName: Julie Vancraeynest, Role: CONTACT, Phone: +32 9 332 83 29, Email: julie.vancraeynest@uzgent.be NCT07287189-75.6981245.41117RECRUITINGRECRUITINGChildren's Hospital Eastern OntarioOttawaOntarioCanadaName: Emilie Hill-Smith, Role: CONTACT, Phone: , Email: EHillSmith@cheo.on.ca NCT0728718918.6491254.35227NOT_YET_RECRUITINGRECRUITINGKlinika Neurologii Rozwojowej UniwersyteckieGdanskPomeranian VoivodeshipPolandName: Angelika Kamińska, Role: CONTACT, Phone: 48 58 349 23 31, Email: ankaminska@uck.gda.pl NCT0728718919.4739551.77058NOT_YET_RECRUITINGRECRUITINGInstytut Centrum Zdrowia Matki PolkiLodzŁódź VoivodeshipPolandName: Joanna Wawrzynczak, Role: CONTACT, Phone: 48 42 271-16-11, Email: joanna.wawrzynczak@iczmp.edu.pl NCT0728718920.4651344.80401NOT_YET_RECRUITINGRECRUITINGClinic of Neurology and Psychiatry for Children and YouthBelgradeSerbiaSerbiaName: Ana Kosac, Role: CONTACT, Phone: , Email: kosacana@gmail.com NCT0728718920.4651344.80401NOT_YET_RECRUITINGRECRUITINGUniversity Children's Clinic TirsovaBelgradeSerbiaSerbiaName: Raus Misela, Role: CONTACT, Phone: , Email: michelleraus@gmail.com NCT0728718920.4651344.80401NOT_YET_RECRUITINGRECRUITINGMother and Child Health Care InstituteBelgradeSerbiaSerbiaName: Snezana Popovic, Role: CONTACT, Phone: , Email: andjajockic@gmail.com NCT07287189-1.9749943.31283NOT_YET_RECRUITINGRECRUITINGHospital Universitario DonostiaDonostia / San SebastianBasque CountrySpainName: Josune Domínguez García, Role: CONTACT, Phone: +34 688 693 705, Email: JOSUNE.DOMINGUEZGARCIA@bio-gipuzkoa.eus NCT07287189-0.3796639.47391NOT_YET_RECRUITINGRECRUITINGHospital Universitario y Politécnico La FeValenciaValenciaSpainName: Marta Campo Rodrigo, Role: CONTACT, Phone: +34 630306333434654, Email: marta_campo@iislafe.es NCT072871892.1589941.38879RECRUITINGRECRUITINGHospital Infantil i Hospital de la DonaBarcelonaSpainName: Juan José Palmí Perales, Role: CONTACT, Phone: +34 671 712 875, Email: juan.palmi@vhir.org NCT07287189-0.1257451.50853NOT_YET_RECRUITINGRECRUITINGGreat Ormond StreetLondonUKUnited KingdomName: Marta Zancolli, Role: CONTACT, Phone: , Email: m.zancolli@ucl.ac.uk NCT0751523522.9349340.64072RECRUITINGRECRUITINGAHEPA University Hospital of ThessalonikiThessalonikiGreeceName: Ioanna Agathokleous, MD, MSc, PhD(c), Role: CONTACT, Phone: +302313303534, Email: iagatho@auth.gr NCT04687020-121.494438.58157ACTIVE_NOT_RECRUITINGUC DavisSacramentoCaliforniaUnited States NCT04687020-87.6500541.85003ACTIVE_NOT_RECRUITINGLurie Children's HospitalChicagoIllinoisUnited States NCT04687020-78.8986235.99403ACTIVE_NOT_RECRUITINGDuke University Medical CenterDurhamNorth CarolinaUnited States NCT04687020-77.4602637.55376ACTIVE_NOT_RECRUITINGChildren's Hospital of Richmond at VCURichmondVirginiaUnited States NCT04687020-114.0852951.05011ACTIVE_NOT_RECRUITINGAlberta Children's HospitalCalgaryAlbertaCanada NCT02036463-87.6500541.85003WITHDRAWNAnn and Robert H. Lurie Children's Hospital of ChicagoChicagoIllinoisUnited States NCT06079736-123.1193449.24966TERMINATEDBritish Columbia Children's HospitalVancouverBritish ColumbiaCanada NCT06079736-66.6655845.94541TERMINATEDStan Cassidy Centre for RehabilitationFrederictonNew BrunswickCanada NCT06079736-75.6981245.41117TERMINATEDChildren's Hospital of Eastern Ontario (CHEO)OttawaOntarioCanada NCT06079736-79.3986443.70643TERMINATEDThe Hospital for Sick Children (SickKids)TorontoOntarioCanada NCT06079736-71.2145446.81228TERMINATEDCHU de QuébecQuébecQuebecCanada NCT02760264-121.7405238.54491COMPLETEDUniversity of California DavisDavisCaliforniaUnited States NCT02760264-82.3248329.65163COMPLETEDUniversity of FloridaGainesvilleFloridaUnited States NCT02760264-81.3792428.53834COMPLETEDNemours Children's HospitalOrlandoFloridaUnited States NCT02760264-87.6500541.85003COMPLETEDAnn & Robert H. Lurie Children's HospitalChicagoIllinoisUnited States NCT02760264-78.8986235.99403COMPLETEDDuke UniversityDurhamNorth CarolinaUnited States NCT02760264-96.8066732.78306COMPLETEDUniversity of Texas Southwestern Medical CenterDallasTexasUnited States NCT02760264144.96332-37.814COMPLETEDRoyal Children's HospitalMelbourneAustralia NCT02760264150.98768-33.80383COMPLETEDSydney Children's HospitalWestmeadAustralia NCT02760264-114.0852951.05011COMPLETEDAlberta Children's HospitalCalgaryAlbertaCanada NCT0276026411.9667957.70716COMPLETEDQueen Silvia Children's HospitalGothenburgSweden NCT02760264-1.6139654.97328COMPLETEDNewcastle upon Tyne Hospitals NHS Foundation TrustNewcastle upon TyneUnited Kingdom NCT01286870-119.6981934.42083TERMINATEDMentor Worldwide LLCSanta BarbaraCaliforniaUnited States NCT0306783135.9450331.95522RECRUITINGUNKNOWNStem Cells of ArabiaAmmanJordanName: Adeeb AlZoubi, PhD, Role: CONTACT, Phone: , Email: adeebalzoubi@stemcellsarabia.net Name: Adeeb AlZoubi, PhD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT01580501-118.2436834.05223COMPLETEDCedars Sinai Medical CenterLos AngelesCaliforniaUnited States NCT072865655.5674950.63373RECRUITINGRECRUITINGCentre de référence des maladies neuromusculaire, Centre Hospitalier Régional de la CitadelleLiègeBelgiumName: Tamara Dangouloff, PhD, Role: CONTACT, Phone: 0033662438138, Email: tamara.dangouloff@uliege.be NCT03406780-121.494438.58157COMPLETEDUniversity of California, DavisSacramentoCaliforniaUnited States NCT03406780-104.8319239.72943COMPLETEDChildren's Hospital ColoradoAuroraColoradoUnited States NCT03406780-81.3792428.53834COMPLETEDNemours Children's HospitalOrlandoFloridaUnited States NCT03406780-91.5301741.66113COMPLETEDUniversity of IowaIowa CityIowaUnited States NCT03406780-71.8022942.26259COMPLETEDUniversity of Massachusetts Medical CenterWorcesterMassachusettsUnited States NCT03406780-90.1978938.62727COMPLETEDWashington UniversitySt LouisMissouriUnited States NCT03406780-84.5143939.12711COMPLETEDCincinnati Children's Hospital Medical CenterCincinnatiOhioUnited States NCT03406780-111.8910540.76078COMPLETEDUniversity of UtahSalt Lake CityUtahUnited States NCT03406780-87.9064743.0389COMPLETEDChildren's Hospital WisconsinMilwaukeeWisconsinUnited States NCT023297694.7009350.87959TERMINATEDUZ LeuvenLeuvenBelgium NCT0232976911.6205744.83804TERMINATEDS.Anna HospitalFerraraItaly NCT0232976911.1064244.99364TERMINATEDPoliclinico Universitario Agostino GemelliRomaItaly NCT023297694.4930652.15833TERMINATEDLeids Universitair Medisch CentrumLeidenNetherlands NCT0232976911.9667957.70716TERMINATEDDrottning Silvias Barn- ochungdomssjukhusGothenburgSweden NCT04054375-87.6500541.85003COMPLETEDNorthwestern UniversityChicagoIllinoisUnited States NCT0754330218.0687159.32938ENROLLING_BY_INVITATIONAstrid Lindgren Children´s HospitalStockholmSweden NCT03439670-121.7405238.54491COMPLETEDUniversity of California DavisDavisCaliforniaUnited States NCT03439670-118.2436834.05223COMPLETEDUniversity of California Los AngelesLos AngelesCaliforniaUnited States NCT03439670-104.8319239.72943COMPLETEDChildren's Hospital ColoradoAuroraColoradoUnited States NCT03439670-81.3792428.53834COMPLETEDNemours Children's HospitalOrlandoFloridaUnited States NCT03439670-87.6500541.85003COMPLETEDAnn & Robert H. Lurie Children's HospitalChicagoIllinoisUnited States NCT03439670-93.0932744.94441COMPLETEDGillette Children's Speciality Health CareSaint PaulMinnesotaUnited States NCT03439670-78.8986235.99403COMPLETEDDuke Children's HospitalDurhamNorth CarolinaUnited States NCT03439670-96.8066732.78306COMPLETEDUniversity of Texas Southwestern Medical CenterDallasTexasUnited States NCT03439670-77.4602637.55376COMPLETEDChildren's Hospital of Virginia of Virginia Commonwealth UniversityRichmondVirginiaUnited States NCT03439670-122.3320747.60621COMPLETEDSeattle Children's HospitalSeattleWashingtonUnited States NCT03439670144.96332-37.814COMPLETEDRoyal Children's HospitalMelbourneAustralia NCT03439670150.98768-33.80383COMPLETEDSydney Children's HospitalWestmeadAustralia NCT034396703.7166751.05COMPLETEDGhent University HospitalGhentBelgium NCT034396704.7009350.87959COMPLETEDUniversity Hospitals LeuvenLeuvenBelgium NCT03439670-114.0852951.05011COMPLETEDAlberta's Children HospitalCalgaryAlbertaCanada NCT03439670-123.1193449.24966COMPLETEDBritish Columbia Children's HospitalVancouverBritish ColumbiaCanada NCT03439670-75.6981245.41117COMPLETEDChildren's Hospital of Eastern OntarioOttawaOntarioCanada NCT03439670-73.5878145.50884COMPLETEDMontreal Children's HospitalMontrealQuebecCanada NCT0343967016.6079649.19522COMPLETEDUniversity Hospital BrnoBrnoCzechia NCT0343967014.4207650.08804COMPLETEDCharles UniversityPragueCzechia NCT0343967023.7278437.98376COMPLETEDAgia Sofia Children's HospitalAthensGreece NCT034396704.4930652.15833COMPLETEDLeiden University Medical CenterLeidenNetherlands NCT034396705.8527851.8425COMPLETEDRadboud UniversityNijmegenNetherlands NCT034396702.1589941.38879COMPLETEDSant Joan de Deu Hospital - Barcelona, SpainBarcelonaSpain NCT03439670-0.3796639.47391COMPLETEDHospital Universitario y Politécnico La FeValenciaSpain NCT0343967011.9667957.70716COMPLETEDQueen Silvia Children's HospitalGothenburgSweden NCT03439670-1.8998352.48142COMPLETEDBirmingham Heartlands HospitalBirminghamUnited Kingdom NCT03439670-4.2576355.86515COMPLETEDRoyal Hospital for ChildrenGlasgowUnited Kingdom NCT03439670-1.5478553.79648COMPLETEDLeeds Teaching Hospital TrustLeedsUnited Kingdom NCT03439670-2.9779453.41058COMPLETEDAlder Hey Children's NHS Foundation TrustLiverpoolUnited Kingdom NCT03439670-0.1257451.50853COMPLETEDGreat Ormond Street HospitalLondonUnited Kingdom NCT03439670-1.6139654.97328COMPLETEDNewcastle upon Tyne Hospitals NHS Foundation TrustNewcastle upon TyneUnited Kingdom NCT06539169-122.1141337.38522RECRUITINGRECRUITINGxCuresLos AltosCaliforniaUnited StatesName: Mark Shapiro, Role: CONTACT, Phone: 707-641-4475, Email: expandedaccess@xcures.com NCT05291091-92.2895934.74648ACTIVE_NOT_RECRUITINGArkansas Children's HospitalLittle RockArkansasUnited States NCT05291091-117.274232.84727ACTIVE_NOT_RECRUITINGUC San DiegoLa JollaCaliforniaUnited States NCT05291091-118.2436834.05223ACTIVE_NOT_RECRUITINGUCLA Medical CenterLos AngelesCaliforniaUnited States NCT05291091-117.8531133.78779ACTIVE_NOT_RECRUITINGUC Irvine Medical CenterOrangeCaliforniaUnited States NCT05291091-122.1430237.44188ACTIVE_NOT_RECRUITINGStanford Neuroscience Health CenterPalo AltoCaliforniaUnited States NCT05291091-121.494438.58157ACTIVE_NOT_RECRUITINGUC Davis Medical CenterSacramentoCaliforniaUnited States NCT05291091-104.8319239.72943ACTIVE_NOT_RECRUITINGUC DenverAuroraColoradoUnited States NCT05291091-82.3248329.65163ACTIVE_NOT_RECRUITINGUniversity of FloridaGainesvilleFloridaUnited States NCT05291091-84.3879833.749ACTIVE_NOT_RECRUITINGRare Disease ResearchAtlantaGeorgiaUnited States NCT05291091-87.6500541.85003ACTIVE_NOT_RECRUITINGNorthwestern UniversityChicagoIllinoisUnited States NCT05291091-86.1580439.76838ACTIVE_NOT_RECRUITINGIndiana University School of MedicineIndianapolisIndianaUnited States NCT05291091-91.5301741.66113ACTIVE_NOT_RECRUITINGUniversity of IowaIowa CityIowaUnited States NCT05291091-94.6274639.11417ACTIVE_NOT_RECRUITINGUniversity of Kansas Medical CenterKansas CityKansasUnited States NCT05291091-76.6121939.29038ACTIVE_NOT_RECRUITINGKennedy Krieger InstituteBaltimoreMarylandUnited States NCT05291091-71.8022942.26259ACTIVE_NOT_RECRUITINGUniversity of Massachusetts Memorial Medical CenterWorcesterMassachusettsUnited States NCT05291091-93.2638444.97997ACTIVE_NOT_RECRUITINGUniversity of MinnesotaMinneapolisMinnesotaUnited States NCT05291091-90.1978938.62727ACTIVE_NOT_RECRUITINGWashington University School of MedicineSt LouisMissouriUnited States NCT05291091-77.6155643.15478ACTIVE_NOT_RECRUITINGUniversity of Rochester Medical CenterRochesterNew YorkUnited States NCT05291091-79.0997336.07542ACTIVE_NOT_RECRUITINGRare Disease Research, LLC NCHillsboroughNorth CarolinaUnited States NCT05291091-84.5143939.12711ACTIVE_NOT_RECRUITINGUniversity of Cincinnati Gardner Neuroscience InstituteCincinnatiOhioUnited States NCT05291091-82.9987939.96118ACTIVE_NOT_RECRUITINGNationwide Children's HospitalColumbusOhioUnited States NCT05291091-75.1636239.95238ACTIVE_NOT_RECRUITINGUniversity of PennsylvaniaPhiladelphiaPennsylvaniaUnited States NCT05291091-79.9958940.44062ACTIVE_NOT_RECRUITINGUniversity of PittsburghPittsburghPennsylvaniaUnited States NCT05291091-97.7430630.26715ACTIVE_NOT_RECRUITINGNational Neuromuscular Research InstituteAustinTexasUnited States NCT05291091-97.1330733.21484ACTIVE_NOT_RECRUITINGNeurology Rare Disease CenterDentonTexasUnited States NCT05291091-77.4602637.55376ACTIVE_NOT_RECRUITINGVirginia Commonwealth University HealthRichmondVirginiaUnited States NCT05291091144.97833-37.79839ACTIVE_NOT_RECRUITINGSt Vincent's Hospital MelbourneFitzroyAustralia NCT052910913.7166751.05ACTIVE_NOT_RECRUITINGUniversity Hospital GentGhentBelgiumBelgium NCT052910914.7009350.87959ACTIVE_NOT_RECRUITINGUniversitaire Ziekenhuizen LeuvenLeuvenBelgium NCT052910915.5674950.63373ACTIVE_NOT_RECRUITINGCentre Hospitalier Régional de la CitadelleLiègeBelgium NCT0529109112.5655355.67594ACTIVE_NOT_RECRUITINGRigshospitaletCopenhagenDenmark NCT052910915.3810743.29695ACTIVE_NOT_RECRUITINGCentre de Reference des Maladies Neuromusculaires et de la SLA - AP-HM Hopital de La TimoneMarseilleFrance NCT05291091-1.5533647.21725ACTIVE_NOT_RECRUITINGCHU de NantesNantesFrance NCT052910917.2660843.70313ACTIVE_NOT_RECRUITINGCHU de Nice - Hopital Pasteur 2 - Centre de reference des Maladies NeuromusculairesNiceFrance NCT052910912.348848.85341ACTIVE_NOT_RECRUITINGAP-HP Hopital Pitie-SalpetriereParisFrance NCT0529109111.5754948.13743ACTIVE_NOT_RECRUITINGKlinikum der Ludwig-Maximilians-Universitaet MuenchenMunichGermany NCT0529109135.2163331.76904ACTIVE_NOT_RECRUITINGHadassah University HospitalJerusalemIsrael NCT0529109134.8874732.08707ACTIVE_NOT_RECRUITINGSchneider Children's Hospital of IsraelPetah TikvaIsrael NCT052910919.1895145.46427ACTIVE_NOT_RECRUITINGFondazione IRCCS Ca'Granda Ospedale Maggiore Policlinico di MilanoMilanItaly NCT0529109111.1426144.38225ACTIVE_NOT_RECRUITINGAzienda Ospedale - Università PadovaPadovaItaly NCT0529109112.5113341.89193ACTIVE_NOT_RECRUITINGFondazione Policlinico Universitario A. Gemelli IRCCS - Universita Cattolica del Sacro CuoreRomeItaly NCT052910914.4930652.15833ACTIVE_NOT_RECRUITINGLeids Universitair Medisch CentrumLeidenNetherlands NCT05291091174.76349-36.84853ACTIVE_NOT_RECRUITINGOptimal Clinical TrialsAucklandNew Zealand NCT052910912.1589941.38879ACTIVE_NOT_RECRUITINGHospital Universitario Vall d'HebronBarcelonaSpain NCT052910912.1589941.38879ACTIVE_NOT_RECRUITINGHospital Universitari de BellvitgeBarcelonaSpain NCT05291091-1.9749943.31283ACTIVE_NOT_RECRUITINGHospital Universitario DonostiaDonostia / San SebastianSpain NCT05291091-0.3796639.47391ACTIVE_NOT_RECRUITINGHospital Universitari i Politecnic La FeValenciaSpain NCT05291091-0.1257451.50853ACTIVE_NOT_RECRUITINGUniversity College London HospitalLondonUnited Kingdom NCT05291091-0.1257451.50853ACTIVE_NOT_RECRUITINGSt. George's University Hospitals NHS Foundation TrustLondonUnited Kingdom NCT05291091-5.8897954.21804ACTIVE_NOT_RECRUITINGNewcastle Freeman HospitalNewcastleUnited Kingdom NCT05291091-2.2904253.48771ACTIVE_NOT_RECRUITINGSalford Royal HospitalSalfordUnited Kingdom NCT04632940-92.2895934.74648TERMINATEDArkansas Children's HospitalLittle RockArkansasUnited States NCT04632940-118.2436834.05223TERMINATEDChildren's Hospital Los AngelesLos AngelesCaliforniaUnited States NCT04632940-121.494438.58157TERMINATEDUniversity of California Davis Children's HospitalSacramentoCaliforniaUnited States NCT04632940-117.1647232.71571TERMINATEDUniversity of California San Diego HealthSan DiegoCaliforniaUnited States NCT04632940-104.8319239.72943TERMINATEDChildren's Hospital ColoradoAuroraColoradoUnited States NCT04632940-82.3248329.65163TERMINATEDUniversity of Florida Health Shands HospitalGainesvilleFloridaUnited States NCT04632940-82.4584327.94752TERMINATEDRare Disease Research - TampaTampaFloridaUnited States NCT04632940-84.3879833.749TERMINATEDRare Disease Research CenterAtlantaGeorgiaUnited States NCT04632940-87.6500541.85003TERMINATEDAnn & Robert H. Lurie Children's Hospital of ChicagoChicagoIllinoisUnited States NCT04632940-91.5301741.66113TERMINATEDUniversity of Iowa Hospitals and ClinicsIowa CityIowaUnited States NCT04632940-94.631939.02223TERMINATEDUniversity of Kansas Medical Center Research InstituteFairwayKansasUnited States NCT04632940-76.6121939.29038TERMINATEDKennedy Krieger InstituteBaltimoreMarylandUnited States NCT04632940-71.8022942.26259TERMINATEDUniversity of Massachusetts Memorial CenterWorcesterMassachusettsUnited States NCT04632940-83.7408842.27756TERMINATEDC.S. Mott Children's HospitalAnn ArborMichiganUnited States NCT04632940-85.6680942.96336TERMINATEDSpectrum Health Hospitals Helen DeVos Children's HospitalGrand RapidsMichiganUnited States NCT04632940-90.1978938.62727TERMINATEDWashington University School of Medicine in St. LouisSt LouisMissouriUnited States NCT04632940-84.5143939.12711TERMINATEDCincinnati Children's Hospital Medical CenterCincinnatiOhioUnited States NCT04632940-122.6762145.52345TERMINATEDShriners Hospital for ChildrenPortlandOregonUnited States NCT04632940-76.6502540.28592TERMINATEDPenn State Health Milton S. Hershey Medical CenterHersheyPennsylvaniaUnited States NCT04632940-75.1636239.95238TERMINATEDChildren's Hospital of PhiladelphiaPhiladelphiaPennsylvaniaUnited States NCT04632940-86.7844436.16589TERMINATEDVanderbilt University Medical CenterNashvilleTennesseeUnited States NCT04632940-95.3632729.76328TERMINATEDTexas Children's HospitalHoustonTexasUnited States NCT04632940-111.8910540.76078TERMINATEDUniversity of Utah HealthSalt Lake CityUtahUnited States NCT04632940-78.4766838.02931TERMINATEDUniversity of Virginia Children's HospitalCharlottesvilleVirginiaUnited States NCT04632940-76.2852236.84681TERMINATEDChildren's Hospital of The King's DaughtersNorfolkVirginiaUnited States NCT04632940-122.3320747.60621TERMINATEDSeattle Children's HospitalSeattleWashingtonUnited States NCT04632940-87.9064743.0389TERMINATEDChildren's Wisconsin Corporate CenterMilwaukeeWisconsinUnited States NCT04632940144.95-37.78333TERMINATEDMurdoch Children's Research InstituteParkvilleVictoriaAustralia NCT0463294016.3720848.20849TERMINATEDKlinik FavoritenViennaState of ViennaAustria NCT046329404.7009350.87959TERMINATEDUniversitair Ziekenhuis Leuven - Campus GasthuisbergLeuvenFlemish BrabantBelgium NCT046329405.5674950.63373TERMINATEDCentre Hospitalier Régional de la CitadelleLiègeLiegeBelgium NCT046329403.7166751.05TERMINATEDUniversitair Ziekenhuis GentGhentOost-VlaanderenBelgium NCT04632940-81.2330442.98339TERMINATEDLondon Health Sciences CentreLondonOntarioCanada NCT04632940106.5577129.56026TERMINATEDChildren's Hospital of Chongqing Medical UniversityChongqingChongqing MunicipalityChina NCT04632940113.2523.11667TERMINATEDThe 1st Affiliated Hospital, Sun Yat-sen UniversityGuangzhouGuangdongChina NCT04632940112.9708728.19874TERMINATEDXiangya Hospital Central South UniversityChangshaHunanChina NCT04632940104.0666730.66667TERMINATEDWest China Second University Hospital, Sichuan UniversityChengduSichuanChina NCT04632940116.3972339.9075TERMINATEDPeking Union Medical College Hospital, Chinese Academy of Medical SciencesBeijingChina NCT046329407.7455348.58392TERMINATEDHôpital HautepierreStrasbourgBas-RhinFrance NCT04632940-1.5533647.21725TERMINATEDCentre Hospitalier Universitaire Nantes - Hôtel DieuNantesFrance NCT046329402.348848.85341TERMINATEDAssociation Institut de MyologieParisFrance NCT0463294012.5983642.78235TERMINATEDIRRCS Ospedale San RaffaeleMilanMilanItaly NCT046329409.2945.80075TERMINATEDIstituto di Ricovero e Cura a Carattere Scientifico Eugenio Medea - LombardiaBosisio PariniItaly NCT0463294012.5983642.78235TERMINATEDCentro Clinico NeMOMilanItaly NCT0463294011.1064244.99364TERMINATEDFondazione Policlinico Universitario Agostino GemelliRomaItaly NCT0463294011.1064244.99364TERMINATEDOspedale Pediatrico Bambino Gesù - Roma - GianicoloRomaItaly NCT046329404.4930652.15833TERMINATEDLeiden Universitair Medisch CentrumLeidenNetherlands NCT046329405.8527851.8425TERMINATEDRadboud Universitair Medisch CentrumNijmegenNetherlands NCT046329402.1589941.38879TERMINATEDHospital Universitari Vall d'HebrónBarcelonaSpain NCT04632940-0.3796639.47391TERMINATEDHospital Universitari i Politecnic La Fe de ValenciaValenciaSpain NCT04632940-1.5478553.79648TERMINATEDLeeds Teaching Hospitals NHS TrustLeedsEnglandUnited Kingdom NCT04632940-1.2559651.75222TERMINATEDOxford University Hospitals NHS Foundation TrustOxfordEnglandUnited Kingdom NCT03680365-93.1668944.80413COMPLETEDEngage Health, Inc.EaganMinnesotaUnited States NCT04184882-121.494438.58157TERMINATEDUniversity of California Davis HealthSacramentoCaliforniaUnited States NCT04184882-94.6274639.11417TERMINATEDUniversity of Kansas Medical CenterKansas CityKansasUnited States NCT04184882-76.6121939.29038TERMINATEDKennedy Krieger InstituteBaltimoreMarylandUnited States NCT04184882-71.8022942.26259TERMINATEDUMass Memorial Medical CenterWorcesterMassachusettsUnited States NCT04184882-77.4602637.55376TERMINATEDChildren's Hospital of Richmond at VCURichmondVirginiaUnited States NCT01066455-121.494438.58157COMPLETEDUniversity of California DavisSacramentoCaliforniaUnited States NCT01066455-77.0363738.89511COMPLETEDChildren's National Medical CenterWashington D.C.District of ColumbiaUnited States NCT01066455-90.1978938.62727COMPLETEDWashington University St. LouisSt LouisMissouriUnited States NCT01066455-79.9958940.44062COMPLETEDUniversity of PittsburghPittsburghPennsylvaniaUnited States NCT01066455-95.3632729.76328COMPLETEDTexas Children's HospitalHoustonTexasUnited States NCT0688749132.8542739.91987ENROLLING_BY_INVITATIONLokman Hekim UniversityAnkaraCankayaTurkey (Türkiye) NCT02760277-121.7405238.54491COMPLETEDUniversity of California DavisDavisCaliforniaUnited States NCT02760277-82.3248329.65163COMPLETEDUniversity of FloridaGainesvilleFloridaUnited States NCT02760277-81.3792428.53834COMPLETEDNemours Children's HospitalOrlandoFloridaUnited States NCT02760277-87.6500541.85003COMPLETEDAnn & Robert H. Lurie Children's HospitalChicagoIllinoisUnited States NCT02760277-78.8986235.99403COMPLETEDDuke UniversityDurhamNorth CarolinaUnited States NCT02760277-96.8066732.78306COMPLETEDUniversity of Texas Southwestern Medical CenterDallasTexasUnited States NCT02760277144.96332-37.814COMPLETEDRoyal Children's HospitalMelbourneAustralia NCT02760277150.98768-33.80383COMPLETEDSydney Children's HospitalWestmeadAustralia NCT02760277-114.0852951.05011COMPLETEDAlberta Children's HospitalCalgaryAlbertaCanada NCT0276027734.8874732.08707COMPLETEDSchneider Children's Medical CenterPetah TikvaIsrael NCT0276027711.9667957.70716COMPLETEDQueen Silvia Children's HospitalGothenburgSweden NCT02760277-1.6139654.97328COMPLETEDNewcastle upon Tyne Hospitals NHS Foundation TrustNewcastle upon TyneUnited Kingdom NCT016486342.348848.85341COMPLETEDArmand Trousseau HospitalParisFrance NCT01451281-77.1002638.98067COMPLETEDNational Institutes of Health Clinical Center, 9000 Rockville PikeBethesdaMarylandUnited States NCT02147639-118.2436834.05223COMPLETEDCedars-Sinai Heart InstituteLos AngelesCaliforniaUnited States NCT02847975-118.2436834.05223COMPLETEDCedars-Sinai Heart InstituteLos AngelesCaliforniaUnited States NCT02847975-118.2436834.05223COMPLETEDCedars-Sinai Medical CenterLos AngelesCaliforniaUnited States NCT057534622.1823248.84226RECRUITINGUNKNOWNHôpital Raymond PoincaréGarchesFranceName: Helge Amthor, MD, PhD, Role: CONTACT, Phone: 01 47 10 71 07, Email: helge.amthor@aphp.fr Name: Helge Amthor, MD, PhD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT06711692-2.0981457.14369NOT_YET_RECRUITINGAberdeen, NHS GrampianAberdeenUnited KingdomName: Elma Stephen, MD, Role: CONTACT, Phone: +44845 456 6000, Email: Name: , Role: CONTACT, Phone: , Email: elma.stephen@nhs.scot Name: Elma Stephen, MD, Role: CONTACT, Phone: , Email: NCT06711692-5.9254154.59682NOT_YET_RECRUITINGBelfast Health and Social Care TrustBelfastUnited KingdomName: Sandya Tirupathi, MD, Role: CONTACT, Phone: +44 028 9504 0100, Email: Sandya.Tirupathi@belfasttrust.hscni.net Name: Sandya Tirupathi, MD, Role: CONTACT, Phone: , Email: NCT06711692-1.8998352.48142NOT_YET_RECRUITINGBirmingham Children's HospitalBirminghamUnited KingdomName: Tracy Willis, MD, Role: CONTACT, Phone: +44 121 333 9999, Email: tracey.willis1@nhs.net Name: Tracey Willis, MD, Role: CONTACT, Phone: , Email: NCT06711692-1.8998352.48142NOT_YET_RECRUITINGBirmingham Community Healthcare NHS Foundation TrustBirminghamUnited KingdomName: Muhammad Chughtai, MD, Role: CONTACT, Phone: 0121 466 6000, Email: muhammad.chughtai1@nhs.net NCT06711692-1.8998352.48142NOT_YET_RECRUITINGBirmingham Heartlands HospitalBirminghamUnited KingdomName: Deepak pParasuraman, MD, Role: CONTACT, Phone: +44121 424 2000, Email: deepak.parasuraman@uhb.nhs.uk Name: Zoya Alhaswani, MD, Role: CONTACT, Phone: , Email: Zoya.Alhaswani@uhb.nhs.uk Name: Deepak Parasuraman, MD, Role: CONTACT, Phone: , Email: NCT06711692-2.5966551.45523NOT_YET_RECRUITINGUniversity Hospitals Bristol and WestonBristolUnited KingdomName: Anirban Majumdar, MD, Role: CONTACT, Phone: +44 117 923 0000, Email: Anirban.majumdar@uhbw.nhs.uk Name: Anirban Majumdar, MD, Role: CONTACT, Phone: , Email: NCT067116920.1166752.2NOT_YET_RECRUITINGCambridge University HospitalsCambridgeUnited KingdomName: Deepa Krishnakumar, MD, Role: CONTACT, Phone: 01223 805000, Email: deepa.krishnakumar@nhs.net Name: Gautam Ambegaonkar, MD, Role: CONTACT, Phone: , Email: NCT06711692-3.1851.48NOT_YET_RECRUITINGCardiff and Vale University Health BoardCardiffUnited KingdomName: Kate Skone, MD, Role: CONTACT, Phone: 029 2074 7747, Email: Kate.Skone@wales.nhs.uk Name: Anurag Saxena, MD, Role: CONTACT, Phone: , Email: Anurag.Saxena@wales.nhs.uk Name: Kate Skone, MD, Role: CONTACT, Phone: , Email: NCT06711692-2.9748956.46913NOT_YET_RECRUITINGNHS Dundee - TaysideDundeeUnited KingdomName: Gavin Cobb, MD, Role: CONTACT, Phone: 01382 660111, Email: Gavin.Cobb@nhs.scot Name: Gemma Robertson, MD, Role: CONTACT, Phone: , Email: NCT06711692-4.2576355.86515NOT_YET_RECRUITINGNHS Greater Glasgow and ClydeGlasgowUnited KingdomName: Jarod Wong, MD, Role: CONTACT, Phone: 0141 347 8468, Email: Jarod.Wong@glasgow.ac.uk Name: Iain Horrocks, MD, Role: CONTACT, Phone: , Email: NCT06711692-2.7998854.04649NOT_YET_RECRUITINGLancashire Teaching Hospitals NHS Foundation TrustLancasterUnited KingdomName: Christian DeGoede, MD, Role: CONTACT, Phone: 01772 716565, Email: christian.degoede@lthtr.nhs.uk Name: Amy Parkes, MD, Role: CONTACT, Phone: , Email: amy.parkes@thtr.nhs.uk Name: Christian DeGoede, MD, Role: CONTACT, Phone: , Email: NCT06711692-1.5478553.79648NOT_YET_RECRUITINGLeeds Teaching Hospitals NHS TrustLeedsUnited KingdomName: Anne-Marie Childs, MD, Role: CONTACT, Phone: 0113 2433 144, Email: anne-marie.childs@nhs.net Name: Anne-Marie Childs, MD, Role: CONTACT, Phone: , Email: NCT06711692-1.1316952.6386NOT_YET_RECRUITINGUniversity Hospitals of Leicester NHS TrustLeicesterUnited KingdomName: Dhinesh Baskaran, MD, Role: CONTACT, Phone: +44 (0)116 252 2522., Email: dhinesh.baskaran@uhl-tr.nhs.uk Name: Dhinesh Baskaran, MD, Role: CONTACT, Phone: , Email: NCT06711692-2.9779453.41058NOT_YET_RECRUITINGAlder Hey Children's Hospital TrustLiverpoolUnited KingdomName: Rajesh Karuvattil, MD, Role: CONTACT, Phone: 0151 228 4811, Email: rajesh.karuvattil@alderhey.nhs.uk Name: Rajesh Madhu, MD, Role: CONTACT, Phone: , Email: NCT06711692-0.1257451.50853NOT_YET_RECRUITINGGreat Ormond Street Hospital for Children NHS Foundation TrustLondonUnited KingdomName: Clinical Investigator, MD, Role: CONTACT, Phone: , Email: adnan.manzur@gosh.nhs.uk NCT06711692-0.1257451.50853NOT_YET_RECRUITINGEvelina London Children's HospitalLondonUnited KingdomName: Elizabeth Wraige, MD, Role: CONTACT, Phone: 020 7188 7188, Email: Elizabeth.wraige@gstt.nhs.uk Name: Vasantha Gowda, MD, Role: CONTACT, Phone: , Email: NCT06711692-0.1257451.50853NOT_YET_RECRUITINGGreat Ormond Street Hospital for Children NHS Foundation TrustLondonUnited KingdomName: Adnan Manzur, MD, Role: CONTACT, Phone: 020 7405 9200, Email: adnan.manzur@gosh.nhs.uk Name: Adnan Manzur, MD, Role: CONTACT, Phone: , Email: NCT06711692-2.2374353.48095NOT_YET_RECRUITINGManchester University NHS Foundation TrustManchesterUnited KingdomName: Imelda Hughes, MD, Role: CONTACT, Phone: 0161 276 1234, Email: Imelda.hughes@mft.nhs.uk Name: Imelda Hughes, MD, Role: CONTACT, Phone: , Email: NCT06711692-5.8897954.21804NOT_YET_RECRUITINGNewcastle Hospitals NHS Foundation TrustNewcastleUnited Kingdom NCT06711692-1.1504752.9536NOT_YET_RECRUITINGNottingham University Hospitals NHS TrustNottinghamUnited KingdomName: Neuro Admin, MD, Role: CONTACT, Phone: , Email: paedneuroadmin@nuh.nhs.uk Name: Krupa Torne, MD, Role: CONTACT, Phone: , Email: NCT06711692-3.0549752.86195NOT_YET_RECRUITINGThe Robert Jones and Agnes Hunt Orthopaedic HospitalOswestryUnited KingdomName: Richa Kulshrestha, MD, Role: CONTACT, Phone: 01691 404000, Email: richakulshrestha@nhs.net Name: Richa Kulshrestha, MD, Role: CONTACT, Phone: , Email: NCT06711692-1.2559651.75222NOT_YET_RECRUITINGOxford University HospitalsOxfordUnited KingdomName: Richard Tarver, Role: CONTACT, Phone: 0300 304 7777, Email: childneuromuscular@ouh.nhs.uk Name: Sithara Ramdas, MD, Role: CONTACT, Phone: , Email: NCT06711692-4.1430550.37153NOT_YET_RECRUITINGUniversity Hospitals Plymouth NHS TrustPlymouthUnited KingdomName: Richard Tomlinson, MD, Role: CONTACT, Phone: 01752 202082, Email: richard.tomlinson@nhs.net Name: Heather Jarvis, MD, Role: CONTACT, Phone: , Email: NCT06711692-1.465953.38297NOT_YET_RECRUITINGSheffield Teaching Hospitals NHS Foundation TrustSheffieldUnited KingdomName: Sheffield Admin Neuromuscular, Role: CONTACT, Phone: 0114 271 1900, Email: scn-tr.sheffield.nmtherapy@nhs.net Name: Min Ong, MD, Role: CONTACT, Phone: , Email: NCT06711692-1.4042850.90395NOT_YET_RECRUITINGUniversity Hospital Southampton NHS Foundation TrustSouthamptonUnited KingdomName: Marjorie Illingworth, MD, Role: CONTACT, Phone: 023 8077 7222, Email: marjorie.illingworth@uhs.nhs.uk Name: Marjorie Illingworth, MD, Role: CONTACT, Phone: , Email: NCT06711692-3.9432351.62079NOT_YET_RECRUITINGSwansea Bay University Health BoardSwanseaUnited KingdomName: Kate Skone, MD, Role: CONTACT, Phone: 01639 683344, Email: Kate.Skone@wales.nhs.uk Name: Kate Skone, Role: CONTACT, Phone: , Email: NCT0196389710.7460959.91273COMPLETEDOslo University HospitalOsloNorway NCT02636686-76.6121939.29038NO_LONGER_AVAILABLEKennedy Krieger InstituteBaltimoreMarylandUnited States NCT02636686-58.37723-34.61315NO_LONGER_AVAILABLEIMAI ResearchBuenos AiresArgentina NCT02636686144.95-37.78333NO_LONGER_AVAILABLERoyal Children's Hosital, Children's Neuroscience CentreParkvilleVictoriaAustralia NCT02636686150.98768-33.80383NO_LONGER_AVAILABLEInstitute for Neuromuscular ResearchWestmeadAustralia NCT026366864.3487850.85045NO_LONGER_AVAILABLEQueen Fabiola Children's University HospitalBrusselsBelgium NCT026366863.7166751.05NO_LONGER_AVAILABLEUniversitair Ziekenhuis Gent, Afdeling NeurologieGhentBelgium NCT026366864.7009350.87959NO_LONGER_AVAILABLEUniversitair Ziekenhuis GasthuisbergLeuvenBelgium NCT026366865.5674950.63373NO_LONGER_AVAILABLEHôpital de La Citadelle, Centre de référence des MaladiesLiègeBelgium NCT0263668623.3241542.69751NO_LONGER_AVAILABLEMHAT "AlexandrovskaSofiaBulgaria NCT0263668616.6079649.19522NO_LONGER_AVAILABLEDetska NemocniceBrnoCzechia NCT0263668614.4207650.08804NO_LONGER_AVAILABLEFN MotolPragueCzechia NCT02636686-1.5533647.21725NO_LONGER_AVAILABLECHU de Nantes - Hôtel DieuNantesFrance NCT026366862.348848.85341NO_LONGER_AVAILABLEHopital Armand TrousseauParisFrance NCT02636686-0.3558343.31117NO_LONGER_AVAILABLECentre hospitalier de PauPauFrance NCT026366861.4436743.60426NO_LONGER_AVAILABLECHU de Toulouse - Hôpital des EnfantsToulouseFrance NCT0263668612.5338147.795NO_LONGER_AVAILABLEDr. von Haunersches KinderspitalBayernMuenchenGermany NCT026366867.0122851.45657NO_LONGER_AVAILABLEUniversitaetsklinikum EssenEssenGermany NCT026366867.8522247.9959NO_LONGER_AVAILABLEUniversitaetsklinikum FreiburgFreiburg im BreisgauGermany NCT0263668635.2163331.76904NO_LONGER_AVAILABLEHadassah, Hebrew University Medical CenterJerusalemIsrael NCT0263668615.5525638.19394NO_LONGER_AVAILABLEAzienda Universitaria OspedalieraMessinaItaly NCT0263668612.5983642.78235NO_LONGER_AVAILABLEIRCCS Ospedale Maggiore Policlinico, Mangiagalli e Regina ElenaMilanItaly NCT0263668611.1064244.99364NO_LONGER_AVAILABLEIRCCS Ospedale Pediatrico Bambino GesùRomaItaly NCT0263668611.1064244.99364NO_LONGER_AVAILABLEFondazione IRCCS Policlinico GemelliRomaItaly NCT02636686144.4333343.36667NO_LONGER_AVAILABLEKobe University HospitalHyōgoJapan NCT02636686130.6918132.80589NO_LONGER_AVAILABLEKumamoto University HospitalKumamotoJapan NCT02636686139.6565735.90807NO_LONGER_AVAILABLENational Hospital OrganizationSaitamaJapan NCT02636686139.6917135.6895NO_LONGER_AVAILABLENational Center Hospital of Neurology and PsychiatryTokyoJapan NCT026366864.4930652.15833NO_LONGER_AVAILABLELeiden University Medical CenterLeidenNetherlands NCT026366865.8527851.8425NO_LONGER_AVAILABLEUMCN St. RadboudNijmegenNetherlands NCT0263668610.7460959.91273NO_LONGER_AVAILABLEOslo UniversitetssykehusOsloNorway NCT0263668621.0117852.22977NO_LONGER_AVAILABLESPCSK Uniwersytet Medyczny wWarsawPoland NCT0263668637.6178155.75204NO_LONGER_AVAILABLEMoscow Pediatrics and ChildrenMoscowRussia NCT02636686126.978437.566NO_LONGER_AVAILABLESeoul National University Children's HospitalSeoulSouth Korea NCT026366862.1589941.38879NO_LONGER_AVAILABLEHospital Sant Joan de DeuBarcelonaSpain NCT02636686-3.7025640.4165NO_LONGER_AVAILABLEHospital Infantil La PazMadridSpain NCT02636686-0.3796639.47391NO_LONGER_AVAILABLEHospital Universitari la FeValenciaSpain NCT02636686120.3133322.61626NO_LONGER_AVAILABLEKaohsiung Medical University HospitalKaohsiung CityTaiwan NCT0263668632.8542739.91987NO_LONGER_AVAILABLEHacettepe Children's HospsitalAnkaraTurkey (Türkiye) NCT02636686-0.1257451.50853NO_LONGER_AVAILABLEUCL Institute of Child HealthLondonUnited Kingdom NCT02340923-104.8319239.72943COMPLETEDChildren's Hospital ColoradoAuroraColoradoUnited States NCT02340923-71.0597742.35843COMPLETEDBoston Children's HospitalBostonMassachusettsUnited States NCT02340923-71.0597742.35843COMPLETEDSkulpt, Inc.BostonMassachusettsUnited States NCT02340923-90.1978938.62727COMPLETEDSt. Louis Children's HospitalSt LouisMissouriUnited States NCT02340923-84.5143939.12711COMPLETEDCincinnati Children's HospitalCincinnatiOhioUnited States NCT019819157.0122851.45657COMPLETEDUniversity of Essen, Children's Hospital, Dep. of Pediatric PulmonologyEssenNorth Rhine-WestphaliaGermany NCT05019625-71.0597742.35843ACTIVE_NOT_RECRUITINGRECRUITINGBoston Children's HospitalBostonMassachusettsUnited States NCT05019625-71.0597742.35843RECRUITINGRECRUITINGBrigham and Women's HospitalBostonMassachusettsUnited StatesName: Louis Beers, Role: CONTACT, Phone: , Email: lbeers@bwh.harvard.edu Name: Anthony Amato, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT05019625-71.0597742.35843RECRUITINGRECRUITINGMassachusetts General HospitalBostonMassachusettsUnited StatesName: Tamkin Shahraki, MD, Role: CONTACT, Phone: 617-726-7506, Email: tshahraki@mgh.harvard.edu Name: Thurman M. Wheeler, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: Name: Paloma Gonzalez-Perez, MD, PhD, Role: SUB_INVESTIGATOR, Phone: , Email: NCT05019625-80.2442236.09986RECRUITINGRECRUITINGWake Forest UniversityWinston-SalemNorth CarolinaUnited StatesName: Constance Linville, Role: CONTACT, Phone: 336-716-4568, Email: clinvill@wakehealth.edu Name: Araya Puwanant, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT05019625-79.9958940.44062RECRUITINGRECRUITINGUniversity of PittsburghPittsburghPennsylvaniaUnited StatesName: Kerry M. Oddis, RN, CCRC, Role: CONTACT, Phone: 412-692-4918, Email: kmoddis@upmc.edu Name: Paula R. Clemens, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT02295748-118.2436834.05223COMPLETEDUCLALos AngelesCaliforniaUnited States NCT02295748-87.6500541.85003COMPLETEDLurie Children's HospitalChicagoIllinoisUnited States NCT02295748-77.6155643.15478COMPLETEDUniversity of RochesterRochesterNew YorkUnited States NCT02295748-111.8910540.76078COMPLETEDUniversity of UtahSalt Lake CityUtahUnited States NCT01009294-121.7405238.54491TERMINATEDUniversity of California-DavisDavisCaliforniaUnited States NCT01009294-71.0597742.35843TERMINATEDChildren's Hospital of BostonBostonMassachusettsUnited States NCT01009294-93.2638444.97997TERMINATEDUniversity of MinnesotaMinneapolisMinnesotaUnited States NCT01009294-90.1978938.62727TERMINATEDWashington University Medical SchoolSt LouisMissouriUnited States NCT01009294-82.9987939.96118TERMINATEDNationwide Children's HospitalColumbusOhioUnited States NCT01009294-1.6139654.97328TERMINATEDUniversity of NewcastleNewcastle upon TyneUnited Kingdom NCT01803412-121.494438.58157TERMINATEDUC Davis Medical CenterSacramentoCaliforniaUnited States NCT01803412-82.4584327.94752TERMINATEDShriner's Hospital for Children TampaTampaFloridaUnited States NCT01803412-91.5301741.66113TERMINATEDUniversity of IowaIowa CityIowaUnited States NCT01803412-76.6121939.29038TERMINATEDKennedy Krieger InstituteBaltimoreMarylandUnited States NCT01803412-93.2638444.97997TERMINATEDUniversity of MinnesotaMinneapolisMinnesotaUnited States NCT01803412-74.0059740.71427TERMINATEDColumbia University Medical CenterNew YorkNew YorkUnited States NCT01803412-78.8986235.99403TERMINATEDDuke University Medical CenterDurhamNorth CarolinaUnited States NCT01803412-84.5143939.12711TERMINATEDCincinnati Children's Hospital Medical CenterCincinnatiOhioUnited States NCT01803412-82.9987939.96118TERMINATEDNationwide Children's HospitalColumbusOhioUnited States NCT01803412-122.6762145.52345TERMINATEDShriners Hospitals For ChildrenPortlandOregonUnited States NCT01803412-123.1193449.24966TERMINATEDChildren's & Women's Health Centre of BCVancouverBritish ColumbiaCanada NCT01803412-81.2330442.98339TERMINATEDChildren's Hospital London Health Sciences CentreLondonOntarioCanada NCT01803412-73.5878145.50884TERMINATEDCHU Ste-JustineMontrealQuebecCanada NCT00207857-84.3879833.749WITHDRAWNChildren's Healthcare of Atlanta @ Scottish RiteAtlantaGeorgiaUnited States NCT0717273727.1383838.41273COMPLETEDTepecik training and research hospitalIzmirKonakTurkey (Türkiye) NCT07347548-1.6743148.11109ACTIVE_NOT_RECRUITINGBiotrial Clinical Pharmacology UnitRennesFrance NCT02354352-118.2436834.05223COMPLETEDMattel Children's Hospital and David Geffen School of Medicine at UCLALos AngelesCaliforniaUnited States NCT02354352-104.8319239.72943COMPLETEDUniversity of ColoradoAuroraColoradoUnited States NCT02354352-94.6274639.11417COMPLETEDUniversity of Kansas Medical CenterKansas CityKansasUnited States NCT02354352-82.9987939.96118COMPLETEDThe Ohio State University Medical CenterColumbusOhioUnited States NCT02354352-86.7844436.16589COMPLETEDVanderbilt University Medical CenterNashvilleTennesseeUnited States NCT02354352-111.8910540.76078COMPLETEDUniversity of UtahSalt Lake CityUtahUnited States NCT05967351-92.2895934.74648ENROLLING_BY_INVITATIONArkansas Children's HospitalLittle RockArkansasUnited States NCT05967351-118.2436834.05223ENROLLING_BY_INVITATIONUCLA Medical CenterLos AngelesCaliforniaUnited States NCT05967351-122.1430237.44188ENROLLING_BY_INVITATIONLucile Packard Children's Hospital Stanford (LPCH)Palo AltoCaliforniaUnited States NCT05967351-121.494438.58157ENROLLING_BY_INVITATIONUniversity of California, DavisSacramentoCaliforniaUnited States NCT05967351-117.1647232.71571ENROLLING_BY_INVITATIONRady Children's HospitalSan DiegoCaliforniaUnited States NCT05967351-104.8319239.72943ENROLLING_BY_INVITATIONChildren's Hospital of ColoradoAuroraColoradoUnited States NCT05967351-82.3248329.65163ENROLLING_BY_INVITATIONUniversity of Florida Clinical Research CenterGainesvilleFloridaUnited States NCT05967351-87.6500541.85003ENROLLING_BY_INVITATIONAnn & Robert H. Lurie Children's Hospital of ChicagoChicagoIllinoisUnited States NCT05967351-91.5301741.66113ENROLLING_BY_INVITATIONUniversity of Iowa ICTS Clinical Research UnitIowa CityIowaUnited States NCT05967351-76.6121939.29038ENROLLING_BY_INVITATIONThe Johns Hopkins Hospital, Rubenstein Child Health BldgBaltimoreMarylandUnited States NCT05967351-71.0597742.35843ENROLLING_BY_INVITATIONBoston Children's HospitalBostonMassachusettsUnited States NCT05967351-90.1978938.62727ENROLLING_BY_INVITATIONWashington University School of MedicineSt LouisMissouriUnited States NCT05967351-74.0059740.71427ENROLLING_BY_INVITATIONColumbia University Pediatric Neuromuscular CenterNew YorkNew YorkUnited States NCT05967351-77.6155643.15478ENROLLING_BY_INVITATIONUniversity of Rochester Medical CenterRochesterNew YorkUnited States NCT05967351-78.8986235.99403ENROLLING_BY_INVITATIONLenox Baker Children's Hospital (Duke University)DurhamNorth CarolinaUnited States NCT05967351-82.9987939.96118ENROLLING_BY_INVITATIONNationwide Children's HospitalColumbusOhioUnited States NCT05967351-122.6762145.52345ENROLLING_BY_INVITATIONOregon Health and Science UniversityPortlandOregonUnited States NCT05967351-75.1636239.95238ENROLLING_BY_INVITATIONChiildren's Hospital of PhiladelphiaPhiladelphiaPennsylvaniaUnited States NCT05967351-96.8066732.78306ENROLLING_BY_INVITATIONChildren's Health Specialty CenterDallasTexasUnited States NCT05967351-111.8910540.76078ENROLLING_BY_INVITATIONUniversity of Utah HealthSalt Lake CityUtahUnited States NCT05967351-76.2852236.84681ENROLLING_BY_INVITATIONChildren's Hospital of The King's DaughtersNorfolkVirginiaUnited States NCT05967351-87.9064743.0389ENROLLING_BY_INVITATIONChildren's Hospital WisconsinMilwaukeeWisconsinUnited States NCT059673513.7166751.05ENROLLING_BY_INVITATIONUniversitair Ziekenhuis Gent, Neuromuscular Reference Centre (NMRC)GhentEast FlandersBelgium NCT059673517.0122851.45657ENROLLING_BY_INVITATIONUniversitätsklinikum Essen - Klinik für Kinderheilkunde IEssenNorth Rhine-WestphaliaGermany NCT05967351114.1746922.27832ENROLLING_BY_INVITATIONHong Kong Children's HospitalHong KongHong Kong NCT0596735111.8721145.21604ENROLLING_BY_INVITATIONUOC Neurologia Pediatrica e Malattie Muscolari, Istituto G. Gaslini, Istituto Pediatrico di Ricovero e Cura a Carattere ScientificoGenovaItaly NCT0596735112.5983642.78235ENROLLING_BY_INVITATIONUOC Neurologia, Fondazione IRCCS Ca' Granda Ospedale Maggiore PoliclinicoMilanItaly NCT0596735111.1064244.99364ENROLLING_BY_INVITATIONUOC Neuropsichiatria Infantile, Area Salute del Bambino, Fondazione Policlinico Universitario A. Gemelli IRCCS, Universita Cattoclica del Sacro CuoreRomaItaly NCT05967351135.18334.6913ENROLLING_BY_INVITATIONKobe University HospitalKobeHyōgoJapan NCT05967351139.4850835.72603ENROLLING_BY_INVITATIONNational Center of Neurology and PsychiatryKodairaTokyoJapan NCT05967351139.6917135.6895ENROLLING_BY_INVITATIONTokyo Women's Medical University HospitalTokyoJapan NCT059673512.0880941.37732ENROLLING_BY_INVITATIONHospital Sant Joan de DeuEsplugues de LlobregatBarcelonaSpain NCT05967351-0.3796639.47391ENROLLING_BY_INVITATIONHospital Universitario y Politecnico La fe. Neurology DepartmentValenciaSpain NCT05967351120.3133322.61626ENROLLING_BY_INVITATIONKaohsiung Medical University Chung-Ho Memorial HospitalKaohsiung CityTaiwan NCT05967351121.5263925.05306ENROLLING_BY_INVITATIONNational Taiwan University HospitalTaipeiTaiwan NCT05967351-0.1257451.50853ENROLLING_BY_INVITATIONGreat Ormond Street Hospital For Children NHS Foundation TrustLondonGreater LondonUnited Kingdom NCT05967351-1.2559651.75222ENROLLING_BY_INVITATIONOxford University Hospitals NHS Foundation TrustOxfordOxfordshireUnited Kingdom NCT05967351-1.6139654.97328ENROLLING_BY_INVITATIONInstitute of Translational and Clinical ResearchNewcastle upon TyneUnited Kingdom NCT03907072-72.9281641.30815TERMINATEDYale UniversityNew HavenConnecticutUnited States NCT03907072-84.3879833.749TERMINATEDRare Disease Research, LLC.AtlantaGeorgiaUnited States NCT03907072-94.6274639.11417TERMINATEDUniversity of Kansas Medical CenterKansas CityKansasUnited States NCT03907072-76.6121939.29038TERMINATEDKennedy Krieger InstituteBaltimoreMarylandUnited States NCT03907072-71.8022942.26259TERMINATEDUniversity of MassachusettsWorcesterMassachusettsUnited States NCT03907072-87.9064743.0389TERMINATEDChildren's Hospital of WisconsinMilwaukeeWisconsinUnited States NCT039070725.5674950.63373TERMINATEDInstitut de MyologieLiègeLiegeBelgium NCT039070723.7166751.05TERMINATEDUZ GentGhentBelgium NCT039070724.7009350.87959TERMINATEDUniversitaire Ziekenhuizen LeuvenLeuvenBelgium NCT03907072-114.0852951.05011TERMINATEDAlberta Children's HospitalCalgaryAlbertaCanada NCT03907072-81.2330442.98339TERMINATEDLondon Health Sciences Centre - HospitalLondonOntarioCanada NCT0390707214.4207650.08804TERMINATEDFakultni Nemocnice v MotolePragueCzechia NCT039070727.7455348.58392TERMINATEDHôpitaux Universitaires de StrasbourgStrasbourgBas-RhinFrance NCT039070721.4436743.60426TERMINATEDHôpital Des EnfantsToulouseHaute-GaronneFrance NCT039070722.348848.85341TERMINATEDHopital Armand TrosseauParisFrance NCT0390707212.5113341.89193TERMINATEDOspedale Pediatrico Bambino GesùRomeLazioItaly NCT0390707215.5525638.19394TERMINATEDU.O.C di Neurologia e Malattie Neuromuscolari Centro Clinico Nemo SudMessinaItaly NCT0390707212.5983642.78235TERMINATEDOspedale San Reffaele Via Olgettina, 60MilanItaly NCT0390707211.1064244.99364TERMINATEDFondazione Policlinico Universitario A GemelliRomaItaly NCT0390707211.9667957.70716TERMINATEDDrottning Silvias Barn Och UngdomssjukhusGothenburgSweden NCT03907072-1.5478553.79648TERMINATEDLeeds Teaching Hospitals NHS TrustLeedsUnited Kingdom NCT03907072-0.1257451.50853TERMINATEDGreat Ormond Street Hospital (GOSH)LondonUnited Kingdom NCT075736319.1895145.46427ENROLLING_BY_INVITATIONFondazione Serena ETS - Centro Clinico NeMO MilanoMilanItaly NCT0757363112.5113341.89193ENROLLING_BY_INVITATIONUOC Fase I - Fondazione Policlinico Universitario A. Gemelli IRCCS - Universita Cattolica del Sacro CuoreRomeItaly NCT075736314.4930652.15833ENROLLING_BY_INVITATIONLeids Universitair Medisch CentrumLeidenNetherlands NCT075736312.1589941.38879ENROLLING_BY_INVITATIONHospital Sant Joan de DeuBarcelonaSpain NCT07573631-5.9731737.38283ENROLLING_BY_INVITATIONHospital Viamed Santa Angela De la CruzSevilleSpain NCT0757363128.9496641.01384ENROLLING_BY_INVITATIONYeditepe University Kosuyolu HospitalIstanbulTurkeyTurkey (Türkiye) NCT07573631-0.1257451.50853ENROLLING_BY_INVITATIONGreat Ormond Street Hospital NHS Foundation TrustLondonUnited Kingdom NCT0397915711.0078349.59099COMPLETEDUniversity Hospital ErlangenErlangenBavariaGermany NCT02667483144.4333343.36667COMPLETEDKobe University HospitalHyōgoKobe-shiJapan NCT02667483139.6917135.6895COMPLETEDNational Center of Neurology and PsychiatryTokyoKodaira-shiJapan NCT05166109-79.9958940.44062COMPLETEDUniversity of PittsburghPittsburghPennsylvaniaUnited States NCT0516610911.1426144.38225COMPLETEDAzienda Ospedale Universita PadovaPadovaItaly NCT03951675-82.3248329.65163COMPLETEDUniversity of FloridaGainesvilleFloridaUnited States NCT01197300150.98768-33.80383COMPLETEDNovartis Investigative SiteWestmeadNew South WalesAustralia NCT01197300-123.1193449.24966COMPLETEDNovartis Investigative SiteVancouverBritish ColumbiaCanada NCT01197300-75.6981245.41117COMPLETEDNovartis Investigative SiteOttawaOntarioCanada NCT01197300-73.5878145.50884COMPLETEDNovartis Investigative SiteMontrealQuebecCanada NCT01197300-73.5878145.50884COMPLETEDNovartis Investigative SiteMontrealQuebecCanada NCT0119730019.0404547.49835COMPLETEDNovartis Investigative SiteBudapestHungary NCT0119730037.6178155.75204COMPLETEDNovartis Investigative SiteMoscowRussia NCT0119730030.3141359.93863COMPLETEDNovartis Investigative SiteSaint PetersburgRussia NCT0119730027.85849-26.26781COMPLETEDNovartis Investigative SiteSowetoGautengSouth Africa NCT05689164-118.2436834.05223TERMINATEDReed Neurological Research CenterLos AngelesCaliforniaUnited States NCT05689164-118.2436834.05223TERMINATEDUCLA Children's Heart CenterLos AngelesCaliforniaUnited States NCT05689164-118.2436834.05223TERMINATEDUCLA Clinical Lab ServicesLos AngelesCaliforniaUnited States NCT05689164-118.2436834.05223TERMINATEDUCLA Kameron Gait and Motion Analysis Laboratory (Westwood Rehabilitation Center)Los AngelesCaliforniaUnited States NCT05689164-118.2436834.05223TERMINATEDUCLA Medical CenterLos AngelesCaliforniaUnited States NCT05689164-78.8986235.99403TERMINATEDDuke Lenox Baker Children'sDurhamNorth CarolinaUnited States NCT05689164-78.8986235.99403TERMINATEDDuke Children's Health CenterDurhamNorth CarolinaUnited States NCT05689164-111.8910540.76078TERMINATEDUniversity of Utah Imaging and Neurosciences CenterSalt Lake CityUtahUnited States NCT05689164-111.8910540.76078TERMINATEDUniversity of Utah HospitalSalt Lake CityUtahUnited States NCT05689164-111.8910540.76078TERMINATEDPrimary Children's HospitalSalt Lake CityUtahUnited States NCT05689164-111.8910540.76078TERMINATEDUniversity of Utah Clinical Neurosciences CenterSalt Lake CityUtahUnited States NCT05689164-111.8910540.76078TERMINATEDUniversity of Utah Craig H. Neilsen Rehabilitation HospitalSalt Lake CityUtahUnited States NCT04254172-82.9987939.96118TERMINATEDNationwide Children's HospitalColumbusOhioUnited States NCT06100887-118.2436834.05223ACTIVE_NOT_RECRUITINGUCLA Medical CenterLos AngelesCaliforniaUnited States NCT06100887-121.494438.58157ACTIVE_NOT_RECRUITINGUC Davis Medical CenterSacramentoCaliforniaUnited States NCT06100887-82.3248329.65163ACTIVE_NOT_RECRUITINGUniversity of FloridaGainesvilleFloridaUnited States NCT06100887-71.8022942.26259ACTIVE_NOT_RECRUITINGUniversity of Massachusetts Memorial Medical CenterWorcesterMassachusettsUnited States NCT06100887-90.1978938.62727ACTIVE_NOT_RECRUITINGWashington University School of MedicineSt LouisMissouriUnited States NCT06100887-79.0997336.07542ACTIVE_NOT_RECRUITINGRare Disease ResearchHillsboroughNorth CarolinaUnited States NCT06100887-82.9987939.96118ACTIVE_NOT_RECRUITINGNationwide Children's HospitalColumbusOhioUnited States NCT02752048130.6215832.51879COMPLETEDNagoya City University HospitalAichiJapan NCT02752048136.7603935.42291COMPLETEDNational Hospital Organization Nagara Medical CenterGifuJapan NCT02752048144.4333343.36667COMPLETEDKobe University HospitalHyōgoJapan NCT02752048135.7538535.02107COMPLETEDNational Hospital Organization Utano HospitalKyotoJapan NCT02752048138.1833336.65COMPLETEDShinshu University HospitalNaganoJapan NCT02752048139.0412537.92259COMPLETEDNational Hospital Organization Niigata National HospitalNiigataJapan NCT02752048135.5010734.69379COMPLETEDNational Hospital Organization Toneyama National HospitalOsakaJapan NCT02752048139.6565735.90807COMPLETEDNational Hospital Organization Higashisaitama HospitalSaitamaJapan NCT02752048139.6917135.6895COMPLETEDTokyo Women's Medical University HospitalTokyoJapan NCT02752048139.6917135.6895COMPLETEDNational Center of Neurology and PsychiatryTokyoJapan NCT02752048134.6779634.24877COMPLETEDTottori University HospitalTottoriJapan NCT0599060836.336141.27976COMPLETEDOndokuz Mayıs UniversitySamsunTurkey (Türkiye) NCT02413450-76.6121939.29038ENROLLING_BY_INVITATIONJohns Hopkins Medical InstituteBaltimoreMarylandUnited States NCT0216183512.5655355.67594COMPLETEDNeuromuscular Research Unit, Department of Neurology, RigshospitaletCopenhagenDenmark NCT00005574-77.1002638.98067COMPLETEDNational Institute of Neurological Disorders and Stroke (NINDS)BethesdaMarylandUnited States NCT03603288-86.8024933.52066TERMINATEDUniversity of Alabama - Birmingham, Child Health ResearchBirminghamAlabamaUnited States NCT03603288-110.9264832.22174TERMINATEDBanner University of Arizona Medical CenterTucsonArizonaUnited States NCT03603288-118.2436834.05223TERMINATEDChildren's Hospital of Los AngelesLos AngelesCaliforniaUnited States NCT03603288-121.494438.58157TERMINATEDUC Davis Department of Physical Medicine and RehabilitationSacramentoCaliforniaUnited States NCT03603288-84.3879833.749TERMINATEDCenter for Integrative Rare Disease Research, Rare Disease Research, LLCAtlantaGeorgiaUnited States NCT03603288-91.5301741.66113TERMINATEDUniversity of Iowa, Department of PediatricsIowa CityIowaUnited States NCT03603288-76.6121939.29038TERMINATEDJohns Hopkins UniversityBaltimoreMarylandUnited States NCT03603288-71.0597742.35843TERMINATEDChildren's Hospital Boston, Harvard Medical School, Department of NeurologyBostonMassachusettsUnited States NCT03603288-93.0932744.94441TERMINATEDGillette Children's Specialty HealthcareSaint PaulMinnesotaUnited States NCT03603288-80.8431335.22709TERMINATEDNeurosciences Institute, Neurology - Charlotte Carolinas Healthcare SystemCharlotteNorth CarolinaUnited States NCT03603288-84.5143939.12711TERMINATEDCincinnati Children's HospitalCincinnatiOhioUnited States NCT03603288-81.6954141.4995TERMINATEDMetroHealth Medical CenterClevelandOhioUnited States NCT03603288-75.1636239.95238TERMINATEDChildren's Hospital of Philadelphia, Division of PulmonologyPhiladelphiaPennsylvaniaUnited States NCT0360328816.3720848.20849TERMINATEDGottfried von Preyer'sches KinderspitalViennaAustria NCT036032884.7009350.87959TERMINATEDUniversity Hospital LeuvenLeuvenBelgium NCT036032885.5674950.63373TERMINATEDCHR CitadelleLiègeBelgium NCT036032883.0551250.63391TERMINATEDService de neuropédiatrie Pôle Pédiatrie CHRU de Lille - Hôpital Jeanne de FlandreLilleFrance NCT036032883.8763543.61093TERMINATEDCHRU de Montpellier - Hôpital Gui de Chauliac, Département de pédiatrie - neuropédiatrieMontpellierFrance NCT03603288-1.5533647.21725TERMINATEDHôpital Hôtel Dieu, Service Explorations Fonctionnelles - Centre de Référence de Maladies Neuromusculaires raresNantesFrance NCT036032882.348848.85341TERMINATEDI-Motion - Plateforme d'essais cliniques pédiatriques Hôpital Armand Trousseau bâtiment Lemariey porte 20, 2ème étageParisFrance NCT036032881.4436743.60426TERMINATEDHôpital des enfants, Pédiatrie Neurologie et infectiologie Pôle enfantsToulouseFrance NCT036032889.9930253.55073TERMINATEDUniversity Medical Center Hamburg - Eppendorf, Department of PaediatricsHamburgGermany NCT0360328813.3124351.60698TERMINATEDCenter for neuromuscular disorders, Dr. v. Haunersche Kinderklinik, Universität MünchenMünchenGermany NCT036032889.2945.80075TERMINATEDFondazione IRCCS Eugenio MedeaBosisio PariniItaly NCT0360328811.8721145.21604TERMINATEDU.O. Malattie Neuromuscolari, Istituto Giannina GasliniGenovaItaly NCT0360328815.5525638.19394TERMINATEDScientific Coordinator Nemo Sud Clinical CenterAOU Policlinico "G. Martino"MessinaItaly NCT0360328812.5983642.78235TERMINATEDCentro Clinico NEMO (NEuroMuscular Omnicentre), Niguarda HospitalMilanItaly NCT0360328814.2681140.85216TERMINATEDServizio di Cardiomiologia e Genetica Medica AOU Università degli Studi della Campania Luigi VanvitelliNaplesItaly NCT0360328811.1426144.38225TERMINATEDReparto Di Neurologia dell'Osperdale Di PadovaPadovaItaly NCT036032889.1591745.19205TERMINATEDDipartimento di Clinica Neurologica e Psichiatrica dell'Eta Evolutiva della Fondazione IRCCS "C. Mondino" di PaviaPaviaItaly NCT0360328811.1064244.99364TERMINATEDU.O.C. Neuropsichiatria InfantileRomaItaly NCT036032882.1589941.38879TERMINATEDHospital Sant Joan de Deu Neuropediatra, Unidad de patologia nueromuscular, Servicio de NeurologiaBarcelonaSpain NCT03603288-0.3796639.47391TERMINATEDHospital La Fe de Valencia Avinguda de Fernando Abril Martorell Servicio de Neurologia Torre DValenciaSpain NCT036032887.5732747.55839TERMINATEDCenter for neuromuscular disorders, Universitäts-Kinderspital beider Basel (UKBB)BaselSwitzerland NCT03603288-1.5478553.79648TERMINATEDLeeds Teaching Hospital NHS TrustLeedsUnited Kingdom NCT03603288-0.1257451.50853TERMINATEDUCL, National Hospital for Neurology and NeurosurgeryLondonUnited Kingdom NCT03603288-0.1257451.50853TERMINATEDGreat Ormond Street Hospital for ChildrenLondonUnited Kingdom NCT03603288-1.6139654.97328TERMINATEDClinical Research Facility Level 6 Leazes Wing Royal Victoria InfirmaryNewcastle upon TyneUnited Kingdom NCT03603288-3.0549752.86195TERMINATEDRobert Jones and Agnes Hunt Orthopaedic HospitalOswestryUnited Kingdom NCT068612702.348848.85341RECRUITINGRECRUITINGAP-HP Hôtel DieuParisFranceName: Isabelle Durand-Zaleski, Pr, Role: CONTACT, Phone: +33140274143, Email: isabelle.durand-zaleski@aphp.fr NCT0555971032.8542739.91987COMPLETEDHacettepe UniversityAnkaraTurkey (Türkiye) NCT07332013-75.1636239.95238RECRUITINGRECRUITINGChildren's Hospital of PhiladelphiaPhiladelphiaPennsylvaniaUnited StatesName: Calliope O'Donnell, MS, Role: CONTACT, Phone: 267-426-7786, Email: odonnellcs@chop.edu NCT01098708-90.1978938.62727COMPLETEDWashington UniversitySt LouisMissouriUnited States NCT04529707-79.9958940.44062COMPLETEDUniversity of PittsburghPittsburghPennsylvaniaUnited States NCT008390332.348848.85341TERMINATEDHospital Armand Trousseau, Pediatric Pulmonology Department and INSERM UMR S-893ParisFrance NCT00606775136.5833334.88333RECRUITINGUNKNOWNSuzuka HospialSuzukaMie-kenJapanName: Takao Nishizawa, MD. PhD, Role: CONTACT, Phone: +81-52-744-2150, Email: nishizta@med.nagoya-u.ac.jp Name: Fumihiko Yasuma, MD. PhD, Role: CONTACT, Phone: +81-593-78-0337, Email: yasuma@suzuka.go.jp Name: Fumihiko Yasuma, MD, PhD, Role: SUB_INVESTIGATOR, Phone: , Email: Name: Toshimitsu Mori, MD, Role: SUB_INVESTIGATOR, Phone: , Email: Name: Motoko Sakai, MD, PhD, Role: SUB_INVESTIGATOR, Phone: , Email: Name: Satoshi Kuru, MD, PhD, Role: SUB_INVESTIGATOR, Phone: , Email: Name: Seigo Kimura, MD, Role: SUB_INVESTIGATOR, Phone: , Email: Name: Takuya Tamura, MD, Role: SUB_INVESTIGATOR, Phone: , Email: Name: Kentaro Sahashi, MD, Role: SUB_INVESTIGATOR, Phone: , Email: Name: Rei Shibata, MD, PhD, Role: SUB_INVESTIGATOR, Phone: , Email: Name: Taiki Ohashi, MD, Role: SUB_INVESTIGATOR, Phone: , Email: NCT05280730-77.4602637.55376COMPLETEDChildren's Hospital of RichmondRichmondVirginiaUnited States NCT051029168.0442247.39254RECRUITINGRECRUITINGCantonal Hospital AarauAarauCanton of AargauSwitzerlandName: Christina Rüsch, Dr. med., Role: CONTACT, Phone: , Email: NCT051029169.0170346.19278RECRUITINGRECRUITINGPediatric Institute of Southern Switzerland, Ospedale San GiovanniBellinzonaCanton TicinoSwitzerlandName: Barbara Goeggel Simonetti, PD Dr. med., Role: CONTACT, Phone: , Email: NCT051029168.9600446.01008RECRUITINGRECRUITINGNeuro Centre of Italian Switzerland, Ospedale Regionale di LuganoLuganoCanton TicinoSwitzerlandName: Paolo Ripellino, Dr. med., Role: CONTACT, Phone: , Email: NCT051029166.6328246.516RECRUITINGRECRUITINGUniversity Hospital Lausanne CHUV, Children's HospitalLausanneVaudeSwitzerlandName: David Jacquier, Dr. med., Role: CONTACT, Phone: , Email: NCT051029166.6328246.516RECRUITINGRECRUITINGUniversity Hospital Lausanne CHUVLausanneVaudeSwitzerlandName: Stefano Carda, Dr. med., Role: CONTACT, Phone: , Email: NCT051029167.5732747.55839RECRUITINGRECRUITINGUniversity Children's Hospital BaselBaselSwitzerlandName: Andrea Klein, Prof. MD, Role: CONTACT, Phone: , Email: NCT051029167.5732747.55839RECRUITINGRECRUITINGUniversity Hospital BaselBaselSwitzerlandName: Janina Wendebourg, Dr. med., Role: CONTACT, Phone: , Email: NCT051029167.4474446.94809RECRUITINGRECRUITINGInselspital Bern, Children's HospitalBernSwitzerlandName: Andrea Klein, Prof. MD, Role: CONTACT, Phone: , Email: NCT051029167.4474446.94809RECRUITINGRECRUITINGInselspital BernBernSwitzerlandName: Olivier Scheidegger, Prof. MD, Role: CONTACT, Phone: , Email: NCT051029167.4474446.94809RECRUITINGRECRUITINGInstitute of Social and Preventive Medicine (ISPM), University of BernBernSwitzerlandName: Claudia E Kuehni, Prof. MD, Role: CONTACT, Phone: +41 31 684 35 07, Email: swiss-reg-nmd.ispm@unibe.ch NCT051029166.1456946.20222RECRUITINGRECRUITINGUniversity Hospitals of Geneva, Children's HospitalGenevaSwitzerlandName: Joel Fluss, PD Dr. med., Role: CONTACT, Phone: , Email: NCT051029166.1456946.20222RECRUITINGRECRUITINGUniversity Hospitals of GenevaGenevaSwitzerlandName: Agustina Lascano, PD Dr. med., Role: CONTACT, Phone: , Email: NCT051029168.3063547.05048RECRUITINGRECRUITINGCantonal Hospital of Lucerne LUKSLucerneSwitzerlandName: Mareike Schimmel, Dr. med., Role: CONTACT, Phone: , Email: NCT051029168.3063547.05048RECRUITINGRECRUITINGCantonal Hospital of Lucerne, LUKSLucerneSwitzerlandName: Violeta Mihaylova, PD Dr. med., Role: CONTACT, Phone: , Email: NCT051029168.3063547.05048RECRUITINGRECRUITINGPrivate Practice AlpenquaiLucerneSwitzerlandName: Petra Kolditz, Dr.med., Role: CONTACT, Phone: , Email: NCT051029169.3747747.42391RECRUITINGRECRUITINGCantonal Hospital of Eastern SwitzerlandSankt GallenSwitzerlandName: Christoph Neuwirth, PD Dr. med., Role: CONTACT, Phone: , Email: NCT051029169.3747747.42391RECRUITINGRECRUITINGChildren's Hospital of Eastern SwitzerlandSankt GallenSwitzerlandName: Philip Broser, PD Dr. med., Role: CONTACT, Phone: , Email: NCT051029168.5547.36667RECRUITINGRECRUITINGUniversity Hospital Zuerich, Children's HospitalZurichSwitzerlandName: Georg Stettner, PD Dr. med., Role: CONTACT, Phone: , Email: NCT051029168.5547.36667RECRUITINGRECRUITINGUniversity Hospital ZuerichZurichSwitzerlandName: Hans Jung, Prof. MD, Role: CONTACT, Phone: , Email: NCT0350753032.8542739.91987RECRUITINGUNKNOWNHacettepe UniversityAnkaraSıhhiyeTurkey (Türkiye)Name: Graduate School of Health Sciences, Role: CONTACT, Phone: , Email: Name: , Role: CONTACT, Phone: +90 (312) 305 10 90, Email: NCT03777319-91.5301741.66113TERMINATEDUniversity of IowaIowa CityIowaUnited States NCT03777319-82.9987939.96118TERMINATEDNationwide Children's HospitalColumbusOhioUnited States NCT03777319-75.1636239.95238TERMINATEDThe Children's Hospital of PhiladelphiaPhiladelphiaPennsylvaniaUnited States NCT03777319-111.8910540.76078TERMINATEDUniversity of UtahSalt Lake CityUtahUnited States NCT0299403019.8186641.32744COMPLETEDUniversity Hospital Center Mother TeresaTiranaAlbania NCT0299403029.9158231.20176COMPLETEDDepartment of Pediatric,Faculty of Medicine, Alexandria University Children's HospitalAlexandriaEgypt NCT0299403031.2496730.06263COMPLETEDAin Shams University-Medical GeneticsCairoEgypt NCT0299403031.2496730.06263COMPLETEDAin Shams UniversityCairoEgypt NCT0299403031.2496730.06263COMPLETEDAin Shams UnivirsityCairoEgypt NCT0299403031.0019230.78847COMPLETEDDepartmnet of Pediatrics, Tanta UniversityTantaEgypt NCT0299403044.8341241.69143COMPLETEDDepartmnet of Molecular and Medical Genetics, Tbilisi State Medical UniversityTbilisiGeorgia NCT0299403076.260229.93988COMPLETEDAmrita Institute of Medical Sciences & Research CentreKochiKeralaIndia NCT0299403035.5015733.89332COMPLETEDAmerican of science and technologyBeirutLebanon NCT0299403074.3507131.558COMPLETEDDepartment of Pediatric Gastroenterology and Hepatology, The Children's Hospital and Institute of Child HealthLahorePakistan NCT0299403021.2257145.75372COMPLETEDEmergency Hospital for Children "Louis Turcanu"TimișoaraRomania NCT0299403079.848686.93548COMPLETEDLady Ridgeway Hospital for ChildrenColomboSri Lanka NCT05195775-82.3248329.65163ACTIVE_NOT_RECRUITINGUniversity of FloridaGainesvilleFloridaUnited States NCT0571595712.5655355.67594ENROLLING_BY_INVITATIONCopenhagen neuromuscular centerCopenhagenDenmark NCT01921374-46.63611-23.5475COMPLETEDUniversity Federal of São PauloSão PauloSão PauloBrazil NCT06565208138.59863-34.92866COMPLETEDCMAXAdelaideSouth AustraliaAustralia NCT06565208145.26667-37.85COMPLETEDVeritusBayswaterVictoriaAustralia NCT01126697-77.0363738.89511COMPLETEDChildren's National Medical CenterWashington D.C.District of ColumbiaUnited States NCT01126697-87.6500541.85003COMPLETEDLurie Children's HospitalChicagoIllinoisUnited States NCT01126697-80.8431335.22709COMPLETEDCarolinas Medical CenterCharlotteNorth CarolinaUnited States NCT01126697-79.9958940.44062COMPLETEDUniversity of PittsburghPittsburghPennsylvaniaUnited States NCT01126697-90.0489835.14953COMPLETEDUniversity of TennesseeMemphisTennesseeUnited States NCT01126697-114.0852951.05011COMPLETEDAlberta Children's HospitalCalgaryAlbertaCanada NCT01126697139.6917135.6895COMPLETEDNational Center of Neurology and PsychiatryTokyoJapan NCT02081625139.4850835.72603COMPLETEDNational Center of Neurology and PsychiatryKodairaTokyoJapan NCT05683379-84.3879833.749RECRUITINGRECRUITINGRare Disease ResearchAtlantaGeorgiaUnited StatesName: Lily Goggans, Role: CONTACT, Phone: 470-600-9134, Email: lily.goggans@rarediseaseresearch.com Name: Maureen Ikpeoha, Role: CONTACT, Phone: 470-666-1884, Email: maureen.ikpeoha@rarediseaseresearch.com Name: Han Phan, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT0466871612.5655355.67594COMPLETEDCopenhagen Neuromuscular CenterCopenhagenDenmark NCT046687162.348848.85341COMPLETEDImagine Institut Des Maladies Genetiques Necker Enfants Malades FondationParisFrance NCT0466871612.5113341.89193COMPLETEDUniversita Cattolica Del Sacro CuoreRomeItaly NCT046687165.5714551.3828COMPLETEDSTICHTING KEMPENHAEGHE/Leiden University Medical CenterHeezeNetherlands NCT04668716-3.7025640.4165COMPLETEDUniversidad Complutense de MadridMadridSpain NCT04668716-0.1257451.50853COMPLETEDUCL/GOSHLondonUnited Kingdom NCT04668716-5.8897954.21804COMPLETEDUniversity of Newcastle Upon TyneNewcastleUnited Kingdom NCT0629571828.9496641.01384COMPLETEDİstanbul University - CerrahpaşaIstanbulIstanbulTurkey (Türkiye) NCT0617402537.382537.05944COMPLETEDGaziantep İslamic Science and Technology UniversityGaziantepŞahinbeyTurkey (Türkiye) NCT059821195.5674950.63373RECRUITINGRECRUITINGCHR de la CitadelleLiègeBelgiumName: Noor Benmhammed, Role: CONTACT, Phone: 43217726, Email: Noor.Benmhammed@citadelle.be Name: Laurie Medard, Role: CONTACT, Phone: 43218222, Email: Laurie.Medard@citadelle.be Name: Laurent Servais, MD, PhD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT0598211914.4207650.08804ACTIVE_NOT_RECRUITINGRECRUITINGFakultni nemocnice v MotolePragueCzechia NCT0598211931.2496730.06263ACTIVE_NOT_RECRUITINGRECRUITINGGalaa Military Medical ComplexCairoEgypt NCT0598211919.0404547.49835ACTIVE_NOT_RECRUITINGRECRUITINGSemmelweis University 2nd Department of PaediatricsBudapestHungary NCT0598211921.0117852.22977ACTIVE_NOT_RECRUITINGRECRUITINGWarsaw Medical University Hospital, Department of NeurologyWarsawPoland NCT0598211926.1062644.43225RECRUITINGRECRUITINGPediatric Neurology Clinic, Clinical Hospital of Psychiatry "Prof. Dr. Al. Obregia"BucharestRomania NCT0598211926.1062644.43225ACTIVE_NOT_RECRUITINGRECRUITINGNational Clinical Hospital for Children Neurohabilitation "Dr Nicolae Robanescu"BucharestRomania NCT0598211914.5051346.05108ACTIVE_NOT_RECRUITINGRECRUITINGUniversity Children's Hospital, Department for Pediatric NeurologyLjubljanaSlovenia NCT027890592.349.9COMPLETEDHôpital Amiens Nord, Service de NeurologieAmiensFrance NCT027890593.0551250.63391COMPLETEDCHRU de Lille, Hôpital SwyngedhauwLilleFrance NCT027890594.0285349.26526COMPLETEDHôpital Sébastopol, CHU de ReimsReimsFrance NCT05938023144.96332-37.814TERMINATEDRoyal Childrens HospitalMelbourneAustralia NCT05938023153.02049-27.48034TERMINATEDQueensland Children's HospitalSouth BrisbaneAustralia NCT05938023150.98768-33.80383TERMINATEDThe Children's Hospital at WestmeadWestmeadAustralia NCT0593802320.4651344.80401TERMINATEDUniversity Children's HospitalBelgradeSerbia NCT0593802320.4651344.80401TERMINATEDMother and Child Health Care InstituteBelgradeSerbia NCT0593802330.5205639.77667TERMINATEDEskisehir Osmangazi Universitesi Tip FakultesiEskişehirTurkey (Türkiye) NCT0593802328.9496641.01384TERMINATEDYeditepe University HospitalIstanbulTurkey (Türkiye) NCT0593802329.272540.8775TERMINATEDMarmara University Pendik Training and Research HospitalPendikTurkey (Türkiye) NCT05938023-1.8998352.48142TERMINATEDBirmingham Heartlands HospitalBirminghamUnited Kingdom NCT05938023-1.5478553.79648TERMINATEDThe General Infirmary at Leeds, Leeds Teaching Hospital NHS TrustLeedsUnited Kingdom NCT05938023-0.1257451.50853TERMINATEDUniversity College London (UCL) - Great Ormond Street Institute of Child Health (ICH)LondonUnited Kingdom NCT05938023-3.0549752.86195TERMINATEDThe Robert Jones and Agnes Hunt Orthopaedic HospitalOswestryUnited Kingdom NCT01480245150.98768-33.80383TERMINATEDGSK Investigational SiteWestmeadNew South WalesAustralia NCT01480245144.95-37.78333TERMINATEDGSK Investigational SiteParkvilleVictoriaAustralia NCT014802453.7166751.05TERMINATEDGSK Investigational SiteGhentBelgium NCT014802454.7009350.87959TERMINATEDGSK Investigational SiteLeuvenBelgium NCT01480245-49.27306-25.42778TERMINATEDGSK Investigational SiteCuritibaParanáBrazil NCT01480245-43.18223-22.90642TERMINATEDGSK Investigational SiteRio de JaneiroRio de JaneiroBrazil NCT01480245-51.23019-30.03283TERMINATEDGSK Investigational SitePorto AlegreRio Grande do SulBrazil NCT01480245-47.81028-21.1775TERMINATEDGSK Investigational SiteRibeirão PretoSão PauloBrazil NCT01480245-46.53833-23.66389TERMINATEDGSK Investigational SiteSanto AndréSão PauloBrazil NCT01480245-46.63611-23.5475TERMINATEDGSK Investigational SiteSão PauloSão PauloBrazil NCT0148024523.3241542.69751TERMINATEDGSK Investigational SiteSofiaBulgaria NCT01480245-123.1193449.24966TERMINATEDGSK Investigational SiteVancouverBritish ColumbiaCanada NCT01480245-81.2330442.98339TERMINATEDGSK Investigational SiteLondonOntarioCanada NCT01480245-73.5878145.50884TERMINATEDGSK Investigational SiteMontrealQuebecCanada NCT01480245-72.59738-38.73628TERMINATEDGSK Investigational SiteTemucoRegión de La AraucaniaChile NCT01480245-70.64827-33.45694TERMINATEDGSK Investigational SiteSantiagoRegión Metro de SantiagoChile NCT01480245-70.64827-33.45694TERMINATEDGSK Investigational SiteSantiagoChile NCT0148024516.6079649.19522TERMINATEDGSK Investigational SiteBrnoCzechia NCT0148024514.4207650.08804TERMINATEDGSK Investigational SitePragueCzechia NCT01480245-0.5804644.84124TERMINATEDGSK Investigational SiteBordeauxFrance NCT014802453.0551250.63391TERMINATEDGSK Investigational SiteLilleFrance NCT014802455.3810743.29695TERMINATEDGSK Investigational SiteMarseilleFrance NCT014802453.8763543.61093TERMINATEDGSK Investigational SiteMontpellierFrance NCT01480245-1.5533647.21725TERMINATEDGSK Investigational SiteNantesFrance NCT014802452.348848.85341TERMINATEDGSK Investigational SiteParisFrance NCT014802452.348848.85341TERMINATEDGSK Investigational SiteParisFrance NCT01480245-0.3558343.31117TERMINATEDGSK Investigational SitePauFrance NCT014802451.4436743.60426TERMINATEDGSK Investigational SiteToulouseFrance NCT014802457.8522247.9959TERMINATEDGSK Investigational SiteFreiburg im BreisgauBaden-WurttembergGermany NCT0148024511.5754948.13743TERMINATEDGSK Investigational SiteMunichBavariaGermany NCT014802459.9322851.53443TERMINATEDGSK Investigational SiteGöttingenLower SaxonyGermany NCT014802457.0122851.45657TERMINATEDGSK Investigational SiteEssenNorth Rhine-WestphaliaGermany NCT0148024510.1348954.32133TERMINATEDGSK Investigational SiteKielSchleswig-HolsteinGermany NCT0148024519.0404547.49835TERMINATEDGSK Investigational SiteBudapestHungary NCT0148024535.2163331.76904TERMINATEDGSK Investigational SiteJerusalemIsrael NCT0148024511.6205744.83804TERMINATEDGSK Investigational SiteFerraraEmilia-RomagnaItaly NCT0148024512.5113341.89193TERMINATEDGSK Investigational SiteRomeLazioItaly NCT0148024512.5113341.89193TERMINATEDGSK Investigational SiteRomeLazioItaly NCT014802459.1895145.46427TERMINATEDGSK Investigational SiteMilanLombardyItaly NCT0148024515.5525638.19394TERMINATEDGSK Investigational SiteMessinaSicilyItaly NCT01480245144.4333343.36667TERMINATEDGSK Investigational SiteHyōgoJapan NCT01480245130.6918132.80589TERMINATEDGSK Investigational SiteKumamotoJapan NCT01480245139.6565735.90807TERMINATEDGSK Investigational SiteSaitamaJapan NCT01480245139.6917135.6895TERMINATEDGSK Investigational SiteTokyoJapan NCT014802454.4930652.15833TERMINATEDGSK Investigational SiteLeidenNetherlands NCT014802455.8527851.8425TERMINATEDGSK Investigational SiteNijmegenNetherlands NCT0148024510.7460959.91273TERMINATEDGSK Investigational SiteOsloNorway NCT0148024521.0117852.22977TERMINATEDGSK Investigational SiteWarsawPoland NCT0148024537.6178155.75204TERMINATEDGSK Investigational SiteMoscowRussia NCT01480245126.978437.566TERMINATEDGSK Investigational SiteSeoulSouth Korea NCT01480245-3.7025640.4165TERMINATEDGSK Investigational SiteMadridSpain NCT01480245-0.3796639.47391TERMINATEDGSK Investigational SiteValenciaSpain NCT01480245120.3133322.61626TERMINATEDGSK Investigational SiteKaohsiung CityTaiwan NCT0148024532.8542739.91987TERMINATEDGSK Investigational SiteAnkaraTurkey (Türkiye) NCT01480245-0.1257451.50853TERMINATEDGSK Investigational SiteLondonUnited Kingdom NCT01480245-1.6139654.97328TERMINATEDGSK Investigational SiteNewcastle upon TyneUnited Kingdom NCT04956289-77.4602637.55376COMPLETEDChildren's Hospital of Richmond at VCURichmondVirginiaUnited States NCT04956289116.3972339.9075COMPLETEDThe Third Medical Center of PLA General HospitalBeijingChina NCT04956289112.9708728.19874COMPLETEDHunan Children's HospitalChangshaChina NCT0495628911.1064244.99364COMPLETEDFondazione Policlinico Universitario A. Gemelli IRCCS - Universita Cattolica del Sacro CuoreRomaItaly NCT0495628937.6178155.75204COMPLETEDRussian National Research Medical UniversityMoscowRussia NCT0495628930.3141359.93863COMPLETEDSaint Petersburg State Paediatric Medical UniversitySaint PetersburgRussia NCT049562892.1589941.38879COMPLETEDHospital Sant Joan de DeuBarcelonaSpain NCT0495628928.9496641.01384COMPLETEDYeditepe University Kosuyolu HospitalIstanbulTurkey (Türkiye) NCT01521546-118.2436834.05223COMPLETEDMattel Children's Hospital and David Geffen School of Medicine at UCLALos AngelesCaliforniaUnited States NCT01521546-84.5143939.12711COMPLETEDCincinnati Children's Hospital Medical CenterCincinnatiOhioUnited States NCT01521546-82.9987939.96118COMPLETEDThe Ohio State University Medical CenterColumbusOhioUnited States NCT032382359.1895145.46427COMPLETEDFondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico di Milano, UOSMilanItaly NCT032382354.4930652.15833COMPLETEDLeiden University Medical Center LUMCLeidenNetherlands NCT04906460-92.2895934.74648RECRUITINGRECRUITINGArkansas Children's HospitalLittle RockArkansasUnited StatesName: Aravindhan Veerapandiyan, Dr, Role: CONTACT, Phone: 501-364-1850, Email: aveerapandiyan@uams.edu Name: Aravindhan Veerapandiyan, Dr, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT04906460-84.3879833.749RECRUITINGRECRUITINGRare Disease Research LLCAtlantaGeorgiaUnited StatesName: Scott Batchelor, Dr, Role: CONTACT, Phone: 404-782-8239, Email: sbatchelor@rarediseaseresearch.com Name: Scott Batchelor, Dr, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT0490646035.9450331.95522RECRUITINGRECRUITINGIstiklal Hospital/ Clinical Research UnitAmmanJordanName: Muath Alqurashi, Dr, Role: CONTACT, Phone: , Email: drmuathalqurashi@yahoo.com Name: Muath Alqurashi, Dr, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT0490646035.9450331.95522RECRUITINGRECRUITINGThe Specialty Hospital (TSH)/ Advanced Clinical CenterAmmanJordanName: Mai Bader, Dr, Role: CONTACT, Phone: , Email: dr.mai.bader@hotmail.com Name: Mai Bader, Dr, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT04906460-1.2197451.75737RECRUITINGRECRUITINGOxford Children's Hospital, Oxford University Hospitals NHS Foundation TrustHeadingtonOxfordUnited KingdomName: Laurent Servais, MD, PhD, Role: CONTACT, Phone: 01865 227503, Email: Laurent.Servais@ouh.nhs.uk Name: Laurent Servais, MD, PhD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT0610300632.8542739.91987COMPLETEDLokman Hekim UniversityAnkaraTurkey (Türkiye) NCT05712447-77.1527639.084COMPLETEDEmmesRockvilleMarylandUnited States NCT03611244126.978437.566RECRUITINGUNKNOWNSeoul National UniversitySeoulSouth KoreaName: Hyung-Ik Shin, PhD, Role: CONTACT, Phone: +82-02-2072-3218, Email: hyungik1@snu.ac.kr NCT03611244126.978437.566RECRUITINGUNKNOWNSeoul National University HospitalSeoulSouth KoreaName: You Gyoung Yi, M.D., Role: CONTACT, Phone: 82-10-9683-7582, Email: lyk861124@gmail.com NCT02530905-118.2436834.05223COMPLETEDDavid Geffen School of Medicine at UCLALos AngelesCaliforniaUnited States NCT02530905-87.6500541.85003COMPLETEDAnn & Robert H. Lurie Children's Hospital of ChicagoChicagoIllinoisUnited States NCT02530905-76.6121939.29038COMPLETEDKennedy Krieger InstituteBaltimoreMarylandUnited States NCT06290713-82.3248329.65163RECRUITINGRECRUITINGUniversity of Florida Clinical and Translational Research BuildingGainesvilleFloridaUnited States NCT01823783-0.5804644.84124RECRUITINGUNKNOWNUH BordeauxBordeauxFranceName: Caroline Epsil, Role: CONTACT, Phone: , Email: caroline.epsil@chu-bordeaux.fr Name: Caroline Epsil, PH, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT018237833.0551250.63391RECRUITINGUNKNOWNUH LilleLilleFranceName: Jean-Marie Cuisset, PH, Role: CONTACT, Phone: , Email: jean-marie.cuisset@chru-lille.fr Name: Jean-Marie Cuisset, PH, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT018237833.8763543.61093RECRUITINGUNKNOWNMontpellier University HospitalMontpellierFranceName: Claire Chauveton, Role: CONTACT, Phone: , Email: c-chauveton@chu-montpellier.fr Name: François RIVIER, PU PH, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: Name: Stefan Matecki, PU PH, Role: SUB_INVESTIGATOR, Phone: , Email: Name: Pierre Meyer, PH, Role: SUB_INVESTIGATOR, Phone: , Email: Name: Ulrike Walther-Louvier, PH, Role: SUB_INVESTIGATOR, Phone: , Email: Name: Jérome Cottalorda, PU PH, Role: SUB_INVESTIGATOR, Phone: , Email: NCT018237832.348848.85341RECRUITINGUNKNOWNNecker HospitalParisFranceName: Isabelle DESGUERRE, PU PH, Role: CONTACT, Phone: , Email: isabelle.desguerre@nck.aphp.fr Name: Isabelle Desguerre, PU PH, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT018237834.0285349.26526RECRUITINGUNKNOWNUH ReimsReimsFranceName: Pascal Sabouraud, PH, Role: CONTACT, Phone: , Email: psabouraud@chu-reims.fr Name: Pascal Sabouraud, PH, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT018237834.3945.43389RECRUITINGUNKNOWNUH Saint EtienneSaint-EtienneFranceName: Stéphane CHABRIER, PH, Role: CONTACT, Phone: , Email: stephane.chabrier@chu-st-etienne.fr Name: Stéphane CHABRIER, PH, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: Name: Leonard Feasson, PH, Role: SUB_INVESTIGATOR, Phone: , Email: NCT018237831.4436743.60426RECRUITINGUNKNOWNUH ToulouseToulouseFranceName: Claude Cances, PU PH, Role: CONTACT, Phone: , Email: cances.c@chu-toulouse.fr Name: Claude Cances, PU PH, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT0618631028.9496641.01384COMPLETEDGaziosmanpasa Research and Education HospitalIstanbulGaziosmanpaşaTurkey (Türkiye) NCT01890616-84.5143939.12711COMPLETEDCincinnati Children's Hospital Medical CenterCincinnatiOhioUnited States NCT0358961232.8542739.91987COMPLETEDHacettepe UniversityAnkaraSıhhiyeTurkey (Türkiye) NCT05135663130.5531.56667ACTIVE_NOT_RECRUITINGKagoshima University HospitalKagoshimaJapan NCT05135663139.6917135.6895ACTIVE_NOT_RECRUITINGNational Center of Neurology and PsychiatryTokyoJapan NCT0551674518.6491254.35227RECRUITINGUNKNOWNMedical UniversityGdanskPolandName: Eliza Wasilewska, MD,PhD, Role: CONTACT, Phone: +48 56 349 2625, Email: ewasilewska@gumed.edu.pl NCT02907619-118.2436834.05223TERMINATEDDavid Geffen School of Medicine at UCLA/UCLA NeurologyLos AngelesCaliforniaUnited States NCT02907619-118.2436834.05223TERMINATEDRonald Reagan UCLA Medical CenterLos AngelesCaliforniaUnited States NCT02907619-118.2436834.05223TERMINATEDRonald Reagan UCLA PharmacyLos AngelesCaliforniaUnited States NCT02907619-118.2436834.05223TERMINATEDUCLA (David Geffen School of Medicine), Department of Orthopedic SurgeryLos AngelesCaliforniaUnited States NCT02907619-118.2436834.05223TERMINATEDUCLA Clinical & Translational Research CenterLos AngelesCaliforniaUnited States NCT02907619-121.494438.58157TERMINATEDUniversity of California, Davis Medical CenterSacramentoCaliforniaUnited States NCT02907619-91.5301741.66113TERMINATEDUniversity of Iowa ICTS, Clinical Research UnitIowa CityIowaUnited States NCT02907619-76.6121939.29038TERMINATEDKennedy Krieger Institute Out-patient CenterBaltimoreMarylandUnited States NCT02907619-76.6121939.29038TERMINATEDKennedy Krieger InstituteBaltimoreMarylandUnited States NCT02907619-76.6121939.29038TERMINATEDJohns Hopkins HospitalBaltimoreMarylandUnited States NCT02907619-76.6121939.29038TERMINATEDJohns Hopkins Investigational Drug ServiceBaltimoreMarylandUnited States NCT02907619-71.0597742.35843TERMINATEDMassachusetts General HospitalBostonMassachusettsUnited States NCT02907619-93.2638444.97997TERMINATEDUniversity of Minnesota Masonic Children's HospitalMinneapolisMinnesotaUnited States NCT02907619-93.2638444.97997TERMINATED(For Drug deliveries) IDS PharmacyMinneapolisMinnesotaUnited States NCT02907619-90.1978938.62727TERMINATEDSt. Louis Childrens's HospitalSt LouisMissouriUnited States NCT02907619-78.8986235.99403TERMINATEDDuke University Medical Center, Lenox Baker Children's HospitalDurhamNorth CarolinaUnited States NCT02907619-78.8986235.99403TERMINATEDDuke University, Investigational Drug PharmacyDurhamNorth CarolinaUnited States NCT02907619-84.5143939.12711TERMINATEDCincinnati Children's Hospital Medical CenterCincinnatiOhioUnited States NCT02907619-75.1636239.95238TERMINATEDChildren's Hospital of PhiladelphiaPhiladelphiaPennsylvaniaUnited States NCT02907619-79.9958940.44062TERMINATEDChildren's Hospital of Pittsburgh of UPMCPittsburghPennsylvaniaUnited States NCT02907619-111.8910540.76078TERMINATEDCenter for Clinical and Translational SciencesSalt Lake CityUtahUnited States NCT02907619-111.8910540.76078TERMINATEDUtah Center for Advanced Imaging and Research (UCAIR)Salt Lake CityUtahUnited States NCT02907619-111.8910540.76078TERMINATEDInvestigational Drug ServicesSalt Lake CityUtahUnited States NCT02907619-111.8910540.76078TERMINATEDUtah Program for Inherited Neuromuscular DisorderSalt Lake CityUtahUnited States NCT02907619-111.8910540.76078TERMINATEDUniversity of Utah HospitalSalt Lake CityUtahUnited States NCT02907619-111.8910540.76078TERMINATEDUniversity of Utah School of MedicineSalt Lake CityUtahUnited States NCT02907619-114.0852951.05011TERMINATEDAlberta Children's HospitalCalgaryAlbertaCanada NCT02907619-123.1193449.24966TERMINATEDUBC Children's and Women's Health Centre of British ColumbiaVancouverBritish ColumbiaCanada NCT02907619-81.2330442.98339TERMINATEDChildren's Hospital- London Health Sciences CentreLondonOntarioCanada NCT02907619-73.5878145.50884TERMINATEDCentre de Readaptation Marie Enfant (CRME)MontrealQuebecCanada NCT02907619-73.5878145.50884TERMINATEDCHU Sainte-JustineMontrealQuebecCanada NCT0290761911.8721145.21604TERMINATEDUOC Farmacia - Istituto Gianna Gaslini,GenovaItaly NCT0290761911.8721145.21604TERMINATEDUOC Medicina Fisica Riabilitativa - Istituto G. GasliniGenovaItaly NCT0290761911.8721145.21604TERMINATEDUOC Neurologia Pediatrica e Malattie Muscolari Istituto Gianna GasliniGenovaItaly NCT0290761911.8721145.21604TERMINATEDUOC Radiologia - Istituto Gianna Gaslini,GenovaItaly NCT0290761911.8721145.21604TERMINATEDUOS Dipartimentale Endocrinologia Clinica Sperimentale - Ist.GenovaItaly NCT0290761912.5113341.89193TERMINATEDDipartimento Pediatrico Universitario-Ospedaliero EndocrinologiaRomeItaly NCT0290761912.5113341.89193TERMINATEDFarmacia Ospedaliera, IRCCS Ospedale Pediatrico Bambino GesuRomeItaly NCT0290761912.5113341.89193TERMINATEDIRCCS Ospedale Pediatrico Bambino Gesu - Centro TrialsRomeItaly NCT0290761912.5113341.89193TERMINATEDU.O. Malattie Neuromuscolari e Neurodegenerative, IRCCS Ospedale Pediatrico Bambino GesuRomeItaly NCT02907619139.4850835.72603TERMINATEDNational Center of Neurology and PsychiatryKodairaTokyoJapan NCT02907619-0.1257451.50853TERMINATEDDubowitz Neuromuscular Centre, Institute of Child HealthLondonUnited Kingdom NCT02907619-0.1257451.50853TERMINATEDGreat Ormond Street HospitalLondonUnited Kingdom NCT02907619-1.6139654.97328TERMINATEDInstitute of Genetic Medicine,Muscle TeamNewcastle upon TyneUnited Kingdom NCT02907619-1.6139654.97328TERMINATEDClinical Research FacilityNewcastle upon TyneUnited Kingdom NCT02907619-1.6139654.97328TERMINATEDRoyal Victoria Infirmary Research PharmacyNewcastle upon TyneUnited Kingdom NCT039471125.3241560.39299COMPLETEDHaukeland University HospitalBergenHordalandNorway NCT03992430-86.8024933.52066ACTIVE_NOT_RECRUITINGUniversity of Alabama at BirminghamBirminghamAlabamaUnited States NCT03992430-82.3248329.65163ACTIVE_NOT_RECRUITINGUniversity of FloridaGainesvilleFloridaUnited States NCT03992430-84.3879833.749ACTIVE_NOT_RECRUITINGRare Disease Research, LLCAtlantaGeorgiaUnited States NCT03992430-74.081754.60971ACTIVE_NOT_RECRUITINGHospital Universitario San IgnacioBogotáColombia NCT03992430-75.571516.245ACTIVE_NOT_RECRUITINGInstituto Neurologico de Colombia (INDEC)MedellínColombia NCT03992430-75.571516.245ACTIVE_NOT_RECRUITINGHospital Pablo Tobón UribeMedellínColombia NCT0399243016.6079649.19522ACTIVE_NOT_RECRUITINGBrno Klinika detske neurologieBrnoCzechia NCT0399243014.4207650.08804ACTIVE_NOT_RECRUITINGFakultni nemocnice v MotolePragueCzechia NCT0399243012.5655355.67594ACTIVE_NOT_RECRUITINGRigshospitalet Copenhagen University HospitalCopenhagenDenmark NCT039924304.9130345.73865ACTIVE_NOT_RECRUITINGHopital Femme Mere EnfantBronFrance NCT039924302.348848.85341ACTIVE_NOT_RECRUITINGHopital Armand TrousseauParisFrance NCT039924307.7455348.58392ACTIVE_NOT_RECRUITINGCHRU de StrasbourgStrasbourgFrance NCT0399243013.4105352.52437ACTIVE_NOT_RECRUITINGCharité Universitätsmedizin Berlin CVKBerlinGermany NCT039924307.0122851.45657ACTIVE_NOT_RECRUITINGUniversitätsklinikum EssenEssenGermany NCT039924307.8522247.9959ACTIVE_NOT_RECRUITINGUniversitätsklinikum FreiburgFreiburg im BreisgauGermany NCT0399243023.838.05ACTIVE_NOT_RECRUITINGIASO Children's HospitalMarousiAtticaGreece NCT0399243019.0404547.49835ACTIVE_NOT_RECRUITINGSemmelweis Egyetem Genomikai Medicina és Ritka Betegsegek IntezeteBudapestHungary NCT0399243072.5872723.02579ACTIVE_NOT_RECRUITINGRoyal Institute of Child NeurosciencesAhmedabadIndia NCT0399243077.5936912.97194ACTIVE_NOT_RECRUITINGAster RV HospitalBengaluruIndia NCT0399243078.4563617.38405ACTIVE_NOT_RECRUITINGNizam's Institute of Medical SciencesHyderabadIndia NCT0399243078.119539.919ACTIVE_NOT_RECRUITINGJaicare Hospital (A Unit of Sarvee Integra Pvt Ltd.)MaduraiIndia NCT0399243077.214828.62137ACTIVE_NOT_RECRUITINGAll India Institute of Medical SciencesNew DelhiIndia NCT0399243077.214828.62137ACTIVE_NOT_RECRUITINGSir Ganga Ram HospitalNew DelhiIndia NCT0399243073.8553518.51957ACTIVE_NOT_RECRUITINGDeenanath Mangeshkar Hospital & Research CentrePuneIndia NCT0399243079.1325512.9184ACTIVE_NOT_RECRUITINGChristian Medical CollegeVelloreIndia NCT03992430-6.2488953.33306ACTIVE_NOT_RECRUITINGChildren's Health Ireland (CHI) at Temple StreetDublinIreland NCT0399243011.8721145.21604ACTIVE_NOT_RECRUITINGIRCCS Instituto Gianna GasliniGenovaItaly NCT0399243012.5113341.89193ACTIVE_NOT_RECRUITINGFondazione Policlinico Universitario A. Gemelli- IRCCSRomeItaly NCT0399243035.9450331.95522ACTIVE_NOT_RECRUITINGThe Specialty Hospital (TSH)/Advanced Clinical CenterAmmanJordan NCT0399243035.9450331.95522ACTIVE_NOT_RECRUITINGIstiklal Hosptial (IST)AmmanJordan NCT0399243035.8532.55556ACTIVE_NOT_RECRUITINGIrbid Specialty HospitalIrbidJordan NCT0399243035.8532.55556ACTIVE_NOT_RECRUITINGPharmaceutical Research Center/Jordan University of Science and TechnologyIrbidJordan NCT03992430-107.3942124.80209ACTIVE_NOT_RECRUITINGNeurociencias Estudios Clínicos S.C.CuliacánSinaloaMexico NCT03992430-104.6575624.02032ACTIVE_NOT_RECRUITINGInstituto de Investigaciones Clinicas para la Salud A.CDurangoMexico NCT039924304.4930652.15833ACTIVE_NOT_RECRUITINGLeids Universitair Medisch CentrumLeidenNetherlands NCT039924305.8527851.8425ACTIVE_NOT_RECRUITINGRadboud University Nijmegen Medical CentreNijmegenNetherlands NCT03992430174.76349-36.84853ACTIVE_NOT_RECRUITINGNew Zealand Clinical Research - AucklandAucklandNew Zealand NCT0399243010.7460959.91273ACTIVE_NOT_RECRUITINGOslo Universitetssykehus HF RikshospitaletOsloNorway NCT039924305.7333258.97005ACTIVE_NOT_RECRUITINGChildren's Department and Department for Children's Habilitation at Stavanger University HospitalStavangerNorway NCT0399243018.6491254.35227ACTIVE_NOT_RECRUITINGKlinika Neurologii RozwojowejGdanskPomeranian VoivodeshipPoland NCT0399243026.1062644.43225ACTIVE_NOT_RECRUITINGNational Clinical Hospital for Children Neurorehabilitation "Dr. Nicolae Robănescu"BucharestRomania NCT0399243020.4651344.80401ACTIVE_NOT_RECRUITINGClinic for Neurology and Psychiatry for Children and YouthBelgradeSerbia NCT0399243020.4651344.80401ACTIVE_NOT_RECRUITINGUniversity Children's HospitalBelgradeSerbia NCT0399243020.4651344.80401ACTIVE_NOT_RECRUITINGMother and Child Health Care Institute of Serbia "Dr Vukan Cupic"BelgradeSerbia NCT0399243014.5051346.05108ACTIVE_NOT_RECRUITINGUniversity Medical Centre LjubljanaLjubljanaSlovenia NCT03992430128.5911135.87028ACTIVE_NOT_RECRUITINGKyungpook National University Chilgok HospitalDaeguSouth Korea NCT03992430126.978437.566ACTIVE_NOT_RECRUITINGSeoul National University HospitalSeoulSouth Korea NCT03992430126.978437.566ACTIVE_NOT_RECRUITINGSamsung Medical CenterSeoulSouth Korea NCT03992430129.0335835.34199ACTIVE_NOT_RECRUITINGPusan National University Yangsan HospitalYangsanSouth Korea NCT039924302.1589941.38879ACTIVE_NOT_RECRUITINGHospital Sant Joan de DeuBarcelonaSpain NCT03992430-0.3796639.47391ACTIVE_NOT_RECRUITINGHospital Universitari i Politecnic La Fe de ValenciaValenciaSpain NCT039924307.5732747.55839ACTIVE_NOT_RECRUITINGUniversitätsspital BaselBaselSwitzerland NCT03992430120.3133322.61626ACTIVE_NOT_RECRUITINGKaohsiung Medical UniversityKaohsiung CityTaiwan NCT03992430121.5263925.05306ACTIVE_NOT_RECRUITINGNational Taiwan University HospitalTaipeiTaiwan NCT0399243030.6955636.90812ACTIVE_NOT_RECRUITINGAkdeniz Universitesi Tip FakultesiAntalyaTurkey (Türkiye) NCT0399243034.6388636.81196ACTIVE_NOT_RECRUITINGMersin University Medical FacultyMersinTurkey (Türkiye) NCT03992430-1.5478553.79648ACTIVE_NOT_RECRUITINGLeeds Teaching Hospitals NHS TrustLeedsWest YorkshireUnited Kingdom NCT03992430-1.8998352.48142ACTIVE_NOT_RECRUITINGBirmingham Heartlands HospitalBirminghamUnited Kingdom NCT03992430-0.1257451.50853ACTIVE_NOT_RECRUITINGUCL Institute of Child Health Great Ormond StreetLondonUnited Kingdom NCT00893334-77.0363738.89511COMPLETEDChildren's National Medical CenterWashington D.C.District of ColumbiaUnited States NCT00893334-80.8431335.22709COMPLETEDCarolinas Medical CenterCharlotteNorth CarolinaUnited States NCT00592553-121.494438.58157COMPLETEDUniversity of California-DavisSacramentoCaliforniaUnited States NCT00592553-104.8319239.72943COMPLETEDThe Children's HospitalAuroraColoradoUnited States NCT00592553-87.2169130.42131COMPLETEDChild Neurology Center of PensacolaPensacolaFloridaUnited States NCT00592553-91.5301741.66113COMPLETEDUniversity of Iowa HealthcareIowa CityIowaUnited States NCT00592553-94.6274639.11417COMPLETEDUniversity of Kansas Medical CentreKansas CityKansasUnited States NCT00592553-71.0597742.35843COMPLETEDChildren's Hospital of Boston/Harvard Medical SchoolBostonMassachusettsUnited States NCT00592553-93.2638444.97997COMPLETEDUniversity of MinnesotaMinneapolisMinnesotaUnited States NCT00592553-90.1978938.62727COMPLETEDWashington University School of MedicineSt LouisMissouriUnited States NCT00592553-74.0059740.71427COMPLETEDColumbia University Medical SchoolNew YorkNew YorkUnited States NCT00592553-78.8986235.99403COMPLETEDDuke University Medical CenterDurhamNorth CarolinaUnited States NCT00592553-84.5143939.12711COMPLETEDCincinnati Children's Hospital Medical CenterCincinnatiOhioUnited States NCT00592553-122.6762145.52345COMPLETEDShriners Hospital for ChildrenPortlandOregonUnited States NCT00592553-75.1636239.95238COMPLETEDChildren's Hospital of PhiladelphiaPhiladelphiaPennsylvaniaUnited States NCT00592553-96.8066732.78306COMPLETEDSouthwestern UniversityDallasTexasUnited States NCT00592553-111.8910540.76078COMPLETEDUniversity of UtahSalt Lake CityUtahUnited States NCT00592553144.95-37.78333COMPLETEDRoyal Children's HospitalParkvilleVictoriaAustralia NCT00592553150.98768-33.80383COMPLETEDInstitute For Neuromuscular Research, The Children's Hospital at WestmeadWestmeadAustralia NCT005925534.7009350.87959COMPLETEDUniversity Hospital KU LeuvenLeuvenBelgium NCT00592553-114.0852951.05011COMPLETEDAlberta Children's HospitalCalgaryAlbertaCanada NCT00592553-123.1193449.24966COMPLETEDBritish Columbia Children's HospitalVancouverBritish ColumbiaCanada NCT00592553-81.2330442.98339COMPLETEDLondon Health Sciences CenterLondonOntarioCanada NCT005925535.3810743.29695COMPLETEDService de Neuropediatrie, hôpital La TimoneMarseilleFrance NCT00592553-1.5533647.21725COMPLETEDNeuromuscular center of NantesNantesFrance NCT005925532.348848.85341COMPLETEDGroupe Hospitalier La Pitie-SalpetriereParisFrance NCT005925537.0122851.45657COMPLETEDUniversity Clinic for Children, University of EssenEssenGermany NCT005925537.8522247.9959COMPLETEDUniversity HospitalFreiburg im BreisgauGermany NCT0059255335.2163331.76904COMPLETEDHadassah Medical Center, Hebrew University HospitalJerusalemIsrael NCT005925539.1895145.46427COMPLETEDOspedale Maggiore Policlinico in MilanMilanItaly NCT0059255312.5113341.89193COMPLETEDOspedale Pediatrico Bambino GesuRomeItaly NCT0059255312.5113341.89193COMPLETEDU.O. Complessa di Neuropsichiatria InfantileRomeItaly NCT005925532.1589941.38879COMPLETEDHospital Sant Joan de déuBarcelonaSpain NCT00592553-0.3796639.47391COMPLETEDHospital Universitari La FeValenciaSpain NCT0059255311.9667957.70716COMPLETEDQueen Silvia Children's HospitalGothenburgSweden NCT0059255318.0687159.32938COMPLETEDAstrid Lindgren Pediatric HospitalStockholmSweden NCT00592553-0.1257451.50853COMPLETEDImperial College London, Hammersmith HospitalLondonUnited Kingdom NCT00592553-5.8897954.21804COMPLETEDUniv of Newcastle, Institute of Human GeneticsNewcastleUnited Kingdom NCT00592553-3.0549752.86195COMPLETEDRobert Jones and Agnes Hunt Orthopaedic NHS TrustOswestryUnited Kingdom NCT06138639-92.2895934.74648RECRUITINGRECRUITINGArkansas Children's HospitalLittle RockArkansasUnited StatesName: Amber Kellogg, Role: CONTACT, Phone: 501-364-3389, Email: aveerapandiyan@uams.edu Name: Aravindhan Veerapandiyan, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT06138639-118.2436834.05223RECRUITINGRECRUITINGUniversity of California, Los Angeles Medical CenterLos AngelesCaliforniaUnited StatesName: Merve Kaleli, Role: CONTACT, Phone: 310-825-3264, Email: mkaleli@mednet.ucla.edu Name: Perry Shieh, MD, PhD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT06138639-121.494438.58157RECRUITINGRECRUITINGUniversity of California, DavisSacramentoCaliforniaUnited StatesName: Neuromuscular Research Lab, Role: CONTACT, Phone: 916-734-5057, Email: NMRL@ucdavis.edu Name: Craig McDonald, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT06138639-117.1647232.71571RECRUITINGRECRUITINGUniversity of CaliforniaSan DiegoCaliforniaUnited StatesName: Gabriella Penner, Role: CONTACT, Phone: 858-382-3061, Email: gpenner@health.ucsd.edu Name: Chamindra Laverty, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT06138639-84.3879833.749RECRUITINGRECRUITINGRare Disease ResearchAtlantaGeorgiaUnited StatesName: Neona Ni, Role: CONTACT, Phone: 470-666-1884, Email: neona.ni@rarediseaseresearch.com Name: Renata Shih, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT06138639-87.6500541.85003RECRUITINGRECRUITINGAnn & Robert H. Lurie Children's Hospital of ChicagoChicagoIllinoisUnited StatesName: Alka Maheshwari, Role: CONTACT, Phone: 312-227-3813, Email: amaheshwari@luriechildrens.org Name: Nancy Kuntz, MD, Role: CONTACT, Phone: , Email: NCT06138639-90.1978938.62727RECRUITINGRECRUITINGWashington University in St. LouisSt LouisMissouriUnited StatesName: Natalie Goedeker, Role: CONTACT, Phone: 314-362-4919, Email: neuromusclepediatricresearch@wustl.edu Name: Craig Zaidman, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT06138639-82.9987939.96118RECRUITINGRECRUITINGNationwide Children's HospitalColumbusOhioUnited StatesName: Destany McCain, Role: CONTACT, Phone: 614-722-6961, Email: dbs001@nationwidechildrens.org Name: Kevin Flanigan, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT06138639-122.6762145.52345RECRUITINGRECRUITINGOregon Health and Sciences UniversityPortlandOregonUnited StatesName: Beata Dyar, Role: CONTACT, Phone: 503-494-8216, Email: dyar@ohsu.edu Name: Erika Finanger, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT06138639-75.1636239.95238RECRUITINGRECRUITINGChildren's Hospital of PhiladelphiaPhiladelphiaPennsylvaniaUnited StatesName: Brandt Parlanti, Role: CONTACT, Phone: 215-850-7769, Email: parlantib@chop.edu Name: John Brandsema, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT06138639-76.2852236.84681RECRUITINGRECRUITINGChildren's Hospital of the King's DaughtersNorfolkVirginiaUnited StatesName: E.Ann Walker, Role: CONTACT, Phone: 757-668-6543, Email: Proud.Research@CHKD.org Name: Crystal Proud, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT06138639-122.3320747.60621RECRUITINGRECRUITINGSeattle Children's HospitalSeattleWashingtonUnited StatesName: Janaki O'Brien, Role: CONTACT, Phone: 206-987-1642, Email: Janaki.OBrien@seattlechildrens.org Name: Alicia Henriquez, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT06138639-79.3986443.70643RECRUITINGRECRUITINGThe Hospital for Sick ChildrenTorontoOntarioCanadaName: Ana Stosic, Role: CONTACT, Phone: 416-648-6831, Email: Ana.Stosic@SickKids.ca Name: Hernan Gonorazky, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT0613863912.5113341.89193RECRUITINGRECRUITINGFondazione Policlinico Universitario Agostino Gemelli IRCCSRomeItalyName: Lorenzo Stivala, Role: CONTACT, Phone: +39 063-015-6330, Email: lorenzo.stivala@policlinicogemelli.it Name: Eugenio Mercuri, MD, PhD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT06138639-0.1257451.50853RECRUITINGRECRUITINGGreat Ormond Street HospitalLondonUnited KingdomName: Lucinda Furtado, Role: CONTACT, Phone: +44 (0)20 7762 6932, Email: Lucinda.furtado@gosh.nhs.uk Name: Francesco Muntoni, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT06114056104.0666730.66667ACTIVE_NOT_RECRUITINGWest China Hospital, Sichuan UniversityChengduSichuanChina NCT0358957332.8542739.91987COMPLETEDHacettepe UniversityAnkaraSıhhiyeTurkey (Türkiye) NCT04371666-92.2895934.74648TERMINATEDArkansas Children'sLittle RockArkansasUnited States NCT04371666-118.2436834.05223TERMINATEDUniversity of California Los Angeles Medical CenterLos AngelesCaliforniaUnited States NCT04371666-121.494438.58157TERMINATEDUC Davis HealthSacramentoCaliforniaUnited States NCT04371666-104.8319239.72943TERMINATEDChildren's Hospital ColoradoAuroraColoradoUnited States NCT04371666-84.3879833.749TERMINATEDRare Disease Research, LLCAtlantaGeorgiaUnited States NCT04371666-87.6500541.85003TERMINATEDAnn & Robert H. Lurie Children's Hospital of ChicagoChicagoIllinoisUnited States NCT04371666-91.5301741.66113TERMINATEDUniversity of IowaIowa CityIowaUnited States NCT04371666-94.631939.02223TERMINATEDUniversity of Kansas Medical CenterFairwayKansasUnited States NCT04371666-76.6121939.29038TERMINATEDKennedy Krieger InstituteBaltimoreMarylandUnited States NCT04371666-71.8022942.26259TERMINATEDUMASS Med SchoolWorcesterMassachusettsUnited States NCT04371666-83.7408842.27756TERMINATEDC.S. Mott Children's HospitalAnn ArborMichiganUnited States NCT04371666-85.6680942.96336TERMINATEDSpectrum Health Hospitals Helen DeVos Children's HospitalGrand RapidsMichiganUnited States NCT04371666-90.1978938.62727TERMINATEDWashington University School of Medicine in Saint LouisSt LouisMissouriUnited States NCT04371666-80.8431335.22709TERMINATEDCarolinas HealthCare System Neurosciences Institute-Neurology - CharlotteCharlotteNorth CarolinaUnited States NCT04371666-84.5143939.12711TERMINATEDCincinnati Children's Hospital Medical CenterCincinnatiOhioUnited States NCT04371666-82.9987939.96118TERMINATEDNationwide Children's HospitalColumbusOhioUnited States NCT04371666-122.6762145.52345TERMINATEDShriners Hospital for ChildrenPortlandOregonUnited States NCT04371666-76.6502540.28592TERMINATEDPenn State Health Children's HospitalHersheyPennsylvaniaUnited States NCT04371666-75.1636239.95238TERMINATEDThe Children's Hospital of PhiladelphiaPhiladelphiaPennsylvaniaUnited States NCT04371666-86.7844436.16589TERMINATEDVanderbilt University Medical CenterNashvilleTennesseeUnited States NCT04371666-96.8066732.78306TERMINATEDChildren's Health Dallas/UTSWDallasTexasUnited States NCT04371666-111.8910540.76078TERMINATEDUniversity of Utah HealthSalt Lake CityUtahUnited States NCT04371666-76.2852236.84681TERMINATEDChildren's Specialty Group - Medical Center OfficeNorfolkVirginiaUnited States NCT04371666-122.3320747.60621TERMINATEDSeattle Children's HospitalSeattleWashingtonUnited States NCT04371666144.95-37.78333TERMINATEDMurdoch Children's Research InstituteParkvilleVictoriaAustralia NCT0437166616.3720848.20849TERMINATEDKlinik FavoritenViennaAustria NCT043716663.7166751.05TERMINATEDUniversitair Ziekenhuis GentGhentBelgium NCT043716664.7009350.87959TERMINATEDUniversitair Ziekenhuis Leuven - Campus GasthuisbergLeuvenBelgium NCT043716665.5674950.63373TERMINATEDCentre Hospitalier Régional de la CitadelleLiègeBelgium NCT04371666-81.2330442.98339TERMINATEDLondon Health Sciences CentreLondonOntarioCanada NCT04371666106.5577129.56026TERMINATEDChildren's Hospital of Chongqing Medical UniversityChongqingChongqing MunicipalityChina NCT04371666104.0666730.66667TERMINATEDWest China Second University Hospital, Sichuan UniversityChengduSichuanChina NCT04371666116.3972339.9075TERMINATEDPeking Union Medical College Hospital, Chinese Academy of Medical SciencesBeijingChina NCT0437166616.6079649.19522TERMINATEDFakultní Nemocnice Brno - Dětská NemocniceBrnoCzechia NCT0437166614.4207650.08804TERMINATEDKlinika dÄ>tské neurologie, Neuromuskulární centrumPragueCzechia NCT04371666-1.5533647.21725TERMINATEDCHU de Nantes - Hotel DieuNantesFrance NCT043716662.348848.85341TERMINATEDAssociation Institut de MyologieParisFrance NCT043716667.7455348.58392TERMINATEDHopital HautepierreStrasbourgFrance NCT0437166634.7805732.08088TERMINATEDThe Chaim Sheba Medical CenterTel AvivIsrael NCT0437166634.7805732.08088TERMINATEDThe Edith Wolfson Medical CenterTel AvivIsrael NCT043716669.3970445.85589TERMINATEDIstituto di Ricovero e Cura a Carattere Scientifico Eugenio Medea - LombardiaLeccoItaly NCT043716669.1895145.46427TERMINATEDIRRCS Ospedale San RaffaeleMilanItaly NCT0437166612.5113341.89193TERMINATEDFondazione Policlinico Universitario Agostino GemelliRomeItaly NCT0437166612.5113341.89193TERMINATEDOspedale Pediatrico Bambino Gesù - Roma - GianicoloRomeItaly NCT043716665.8527851.8425TERMINATEDRadboud Universitair Medisch CentrumNijmegenGelderlandNetherlands NCT043716664.4930652.15833TERMINATEDLeiden Universitair Medisch CentrumLeidenNetherlands NCT04371666-0.4814938.34517TERMINATEDHospital General Universitario de AlicanteAlicanteSpain NCT043716662.1589941.38879TERMINATEDHospital Universitari Vall d'HebrónBarcelonaSpain NCT04371666-0.3796639.47391TERMINATEDHospital Universitari i Politecnic La FeValenciaSpain NCT043716667.4474446.94809TERMINATEDInselspital Universitätsspital BernBernSwitzerland NCT04371666-1.5478553.79648TERMINATEDLeeds Teaching Hospitals NHS TrustLeedsUnited Kingdom NCT04371666-0.1257451.50853TERMINATEDUniversity College London Hospitals NHS Foundation TrustLondonUnited Kingdom NCT04371666-1.2559651.75222TERMINATEDOxford University Hospitals NHS Foundation TrustOxfordUnited Kingdom NCT01081080-77.0363738.89511COMPLETEDChildren's National Medical CenterWashington D.C.District of ColumbiaUnited States NCT01081080-79.9958940.44062COMPLETEDUniversity of PittsburghPittsburghPennsylvaniaUnited States NCT0352924032.8542739.91987COMPLETEDHacettepe UniversityAnkaraSıhhiyeTurkey (Türkiye) NCT02090959-118.2436834.05223TERMINATEDUniversity of California, Los AngelesLos AngelesCaliforniaUnited States NCT02090959-121.494438.58157TERMINATEDUC Davis Medical CenterSacramentoCaliforniaUnited States NCT02090959-122.1660837.42411TERMINATEDStanford University Medical CenterStanfordCaliforniaUnited States NCT02090959-104.8319239.72943TERMINATEDChildren's Hospital Colorado - Center for Cancer and Blood DisordersAuroraColoradoUnited States NCT02090959-87.1638630.35714TERMINATEDChild Neurology Center of Northwest FloridaGulf BreezeFloridaUnited States NCT02090959-87.6500541.85003TERMINATEDRush University Medical CenterChicagoIllinoisUnited States NCT02090959-91.5301741.66113TERMINATEDUniversity of IowaIowa CityIowaUnited States NCT02090959-94.6274639.11417TERMINATEDUniversity of Kansas Medical CenterKansas CityKansasUnited States NCT02090959-71.0597742.35843TERMINATEDChildren's Hospital BostonBostonMassachusettsUnited States NCT02090959-93.2638444.97997TERMINATEDUniversity of MinnesotaMinneapolisMinnesotaUnited States NCT02090959-90.1978938.62727TERMINATEDWashington University School of Medicine, Division of Endocrinology, Metabolism and Lipid ResearchSt LouisMissouriUnited States NCT02090959-74.0059740.71427TERMINATEDColumbia University College of Physicians & SurgeonsNew YorkNew YorkUnited States NCT02090959-84.5143939.12711TERMINATEDChildren's Hospital CincinnatiCincinnatiOhioUnited States NCT02090959-82.9987939.96118TERMINATEDNationwide Children's HospitalColumbusOhioUnited States NCT02090959-122.6762145.52345TERMINATEDOregon Health & Science UniversityPortlandOregonUnited States NCT02090959-75.1636239.95238TERMINATEDThe Children's Hospital of PhiladelphiaPhiladelphiaPennsylvaniaUnited States NCT02090959-79.9958940.44062TERMINATEDChildren's Hospital of PittsburghPittsburghPennsylvaniaUnited States NCT02090959-96.8066732.78306TERMINATEDChildrens Medical Center Dallas, TexasDallasTexasUnited States NCT02090959-95.3632729.76328TERMINATEDTexas Children's HospitalHoustonTexasUnited States NCT02090959-111.8910540.76078TERMINATEDUniversity of UtahSalt Lake CityUtahUnited States NCT02090959-122.3320747.60621TERMINATEDSeattle Children's Hospital - Childhood Cancer and Blood DisordersSeattleWashingtonUnited States NCT02090959150.98768-33.80383TERMINATEDThe Children's Hospital at WestmeadWestmeadNew South WalesAustralia NCT02090959144.95-37.78333TERMINATEDThe Royal Children's HospitalParkvilleVictoriaAustralia NCT020909594.7009350.87959TERMINATEDUZ LeuvenLeuvenBelgium NCT02090959-43.18223-22.90642TERMINATEDUniversidade Federal do Rio de Janeiro - Instituto de Puericultura e Pediatria Martagao GesteiraRio de JaneiroBrazil NCT02090959-46.63611-23.5475TERMINATEDSao Paulo University -HC/FMUSPSão PauloBrazil NCT0209095923.3241542.69751TERMINATEDAleksandrovska HospitalSofiaBulgaria NCT02090959-114.0852951.05011TERMINATEDAlberta Children's HospitalCalgaryAlbertaCanada NCT02090959-123.1193449.24966TERMINATEDBritish Columbia Children's HospitalVancouverBritish ColumbiaCanada NCT02090959-81.2330442.98339TERMINATEDChildren's Hospital of Western OntarioLondonOntarioCanada NCT02090959-70.64827-33.45694TERMINATEDHospital Luis Calvo MackennaSantiagoSantiago MetropolitanChile NCT02090959-70.64827-33.45694TERMINATEDHospital Clinico Universidad CatolicaSantiagoChile NCT0209095916.6079649.19522TERMINATEDUniversity Hospital BrnoBrnoCzechia NCT0209095914.4207650.08804TERMINATEDMotol University HospitalPragueCzechia NCT020909595.3810743.29695TERMINATEDHospital de la TimoneMarseilleFrance NCT02090959-1.5533647.21725TERMINATEDCHU de NantesNantesFrance NCT020909592.348848.85341TERMINATEDHopital Necker - Enfants MaladesParisFrance NCT020909592.348848.85341TERMINATEDGroupe Hospitalier Pitie-SalpetriereParisFrance NCT020909597.0122851.45657TERMINATEDUniversitaetsklinikum EssenEssenGermany NCT020909597.8522247.9959TERMINATEDUniversity Medical Center FreiburgFreiburg im BreisgauGermany NCT0209095913.3124351.60698TERMINATEDUniversitat Munchen - von Haunersche Kinder ClinicMünchenGermany NCT0209095935.2163331.76904TERMINATEDHadassah University HospitalJerusalemIsrael NCT0209095912.5983642.78235TERMINATEDFondazione IRCCS Ca Granda Ospedale Maggiore Policlinico di MilanoMilanItaly NCT0209095912.5113341.89193TERMINATEDBambino Gesu HospitalRomeItaly NCT0209095912.5113341.89193TERMINATEDU.O. Complessa di Neuropsichiatria InfantileRomeItaly NCT0209095921.0117852.22977TERMINATEDMedical University of WarsawWarsawPoland NCT02090959126.978437.566TERMINATEDSeoul National University HospitalSeoulSouth Korea NCT020909592.1589941.38879TERMINATEDHospital Sant Joan de DeuBarcelonaSpain NCT02090959-0.3796639.47391TERMINATEDHospital Universitari i Politecnic la FeValenciaSpain NCT0209095911.9667957.70716TERMINATEDQueen Silvia Children's HospitalGothenburgSweden NCT0209095918.0687159.32938TERMINATEDAstrid Lindgren Childrens HospitalStockholmSweden NCT020909596.6328246.516TERMINATEDCHUV LausanneLausanneSwitzerland NCT0209095932.8542739.91987TERMINATEDHacettepe Childrens HospitalAnkaraTurkey (Türkiye) NCT02090959-0.1257451.50853TERMINATEDUniversity College London Institute of Child HealthLondonUnited Kingdom NCT02090959-2.2374353.48095TERMINATEDRoyal Manchester Children's HospitalManchesterUnited Kingdom NCT02090959-1.6139654.97328TERMINATEDThe Newcastle upon Tyne Hospitals, NHS Foundation TrustNewcastle upon TyneUnited Kingdom NCT070378623.7166751.05RECRUITINGRECRUITINGUniversity Hospital GentGhentBelgiumName: Nicolas Deconinck, Role: CONTACT, Phone: +32 473 96 66 19, Email: Nicolas.Deconinck@uzgent.be Name: Nicolas Deconinck, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT070378624.7009350.87959RECRUITINGRECRUITINGUZ LeuvenLeuvenBelgiumName: Liesbeth De Waele, Role: CONTACT, Phone: +32 1634 3845, Email: Liesbeth.dewaele@uzleuven.be Name: Liesbeth De Waele, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT070378625.5674950.63373RECRUITINGRECRUITINGCentre Hospitalier Régional de la CitadelleLiègeBelgiumName: Aurore Daron, Role: CONTACT, Phone: +32 4 321 8515, Email: Aurore.daron@citadelle.be Name: Aurore Daron, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT070378629.1895145.46427RECRUITINGRECRUITINGIRCCS Ospedale San RaffaeleMilanItalyName: Stefano Previtali, Role: CONTACT, Phone: 0226435080, Email: previtali.stefano@hsr.it Name: Stefano Previtali, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT070378629.1895145.46427RECRUITINGRECRUITINGFondazione Serena Onlus - Centro Clinico NeMO MilanoMilanItalyName: Valeria Sansone, Role: CONTACT, Phone: +39 3495607450, Email: valeria.sansone@centrocliniconemo.it Name: Valeria Sansone, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT0703786212.5113341.89193RECRUITINGRECRUITINGOspedale Pediatrico Bambino GesuRomeItalyName: Adele D'Amico, Role: CONTACT, Phone: +393888449868, Email: adele2.damico@opbg.net Name: Adele D'Amico, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT070378622.1589941.38879RECRUITINGRECRUITINGHospital Universitario Vall d'HebronBarcelonaSpainName: David Gomez Andres, Role: CONTACT, Phone: +34620539379, Email: david.gomezandres@vallhebron.cat Name: David Gomez Andres, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT070378622.1589941.38879RECRUITINGRECRUITINGHospital Sant Joan de DeuBarcelonaSpainName: Andres Nascimento, Role: CONTACT, Phone: +34936009733, Email: andres.nascimento@sjd.es Name: Andres Nascimento, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT07037862-1.5478553.79648RECRUITINGRECRUITINGLeeds General InfirmaryLeedsUnited KingdomName: Cristina Martos Lozano, Role: CONTACT, Phone: +441133923113, Email: c.martoslozano@nhs.net Name: Cristina Martos Lozano, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT07037862-2.9779453.41058NOT_YET_RECRUITINGRECRUITINGAlder Hey Children's NHS Foundation TrustLiverpoolUnited KingdomName: Rajesh Madhu, Role: CONTACT, Phone: +4401512284811, Email: Rajesh.Madhu@alderhey.nhs.uk Name: Rajesh Madhu, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT07037862-0.1257451.50853RECRUITINGRECRUITINGGreat Ormond Street Hospital for ChildrenLondonUnited KingdomName: Mariacristina Scoto, Role: CONTACT, Phone: 020 7405 9200, Email: mariacristina.scoto@gosh.nhs.uk Name: Mariacristina Scoto, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT07037862-2.2374353.48095NOT_YET_RECRUITINGRECRUITINGRoyal Manchester Children's HospitalManchesterUnited KingdomName: Gary McCullagh, Role: CONTACT, Phone: +441617012346, Email: gary.mccullagh@cmft.nhs.uk Name: Gary McCullagh, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT07037862-1.6139654.97328RECRUITINGRECRUITINGFreeman HospitalNewcastle upon TyneUnited KingdomName: Michela Guglieri, Role: CONTACT, Phone: 0044 1912418649, Email: michela.guglieri@newcastle.ac.uk Name: Michela Guglieri, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT07037862-1.2559651.75222RECRUITINGRECRUITINGOxford University Hospitals NHS Foundation TrustOxfordUnited KingdomName: Laurent Servais, Role: CONTACT, Phone: 07423213373, Email: laurent.servais@paediatrics.ox.ac.uk Name: Laurent Servais, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT07511920104.0666730.66667NOT_YET_RECRUITINGWest China Second University Hospital, Sichuan UniversityChengduChinaName: Xiaotang Cai, Degree（学位 / 职称）, Role: CONTACT, Phone: +86 181 8060 9237, Email: cxt_1999@126.com NCT0543621030.5522237.76444COMPLETEDGüllü Aydın YağcıoğluIspartaTurkey (Türkiye) NCT02420379-112.0740433.44838COMPLETEDNeuromuscular Research Center of ArizonaPhoenixArizonaUnited States NCT02420379-118.2436834.05223COMPLETEDRonald Reagan UCLA Medical CenterLos AngelesCaliforniaUnited States NCT02420379-121.494438.58157COMPLETEDUniversity of California, Davis Medical CenterSacramentoCaliforniaUnited States NCT02420379-122.1660837.42411COMPLETEDStanford University Medical CenterStanfordCaliforniaUnited States NCT02420379-82.3248329.65163COMPLETEDUniversity of Florida, Shands HospitalGainesvilleFloridaUnited States NCT02420379-84.3879833.749COMPLETEDRare Disease Research CenterAtlantaGeorgiaUnited States NCT02420379-84.3879833.749COMPLETEDChildren's Hospital of AtlantaAtlantaGeorgiaUnited States NCT02420379-91.5301741.66113COMPLETEDUniversity of Iowa Children's HospitalIowa CityIowaUnited States NCT02420379-90.1978938.62727COMPLETEDSt. Louis Children's HospitalSt LouisMissouriUnited States NCT02420379-82.9987939.96118COMPLETEDNationwide Children's HospitalColumbusOhioUnited States NCT02420379-122.6762145.52345COMPLETEDShriners Hospital for ChildrenPortlandOregonUnited States NCT02420379-75.1636239.95238COMPLETEDChildren's Hospital of PhiladelphiaPhiladelphiaPennsylvaniaUnited States NCT02420379-122.3320747.60621COMPLETEDSeattle Children's HospitalSeattleWashingtonUnited States NCT02851797-121.7405238.54491COMPLETEDNeuromuscular Research Center UC Davis Department of Physical Medicine and RehabilitationDavisCaliforniaUnited States NCT02851797-117.1647232.71571COMPLETEDRady Children's Hospital center - UCSD Department of NeuroscienceSan DiegoCaliforniaUnited States NCT02851797-104.8319239.72943COMPLETEDChildren's Hospital ColoradoAuroraColoradoUnited States NCT02851797-72.6850941.76371COMPLETEDConnecticut Children's Medical Center - Division NeurologyHartfordConnecticutUnited States NCT02851797-82.3248329.65163COMPLETEDChild Health Research Institute - Department of PediatricsGainesvilleFloridaUnited States NCT02851797-81.3792428.53834COMPLETEDNemours Children's HospitalOrlandoFloridaUnited States NCT02851797-84.3879833.749COMPLETEDMD Rare Disease Research, LLCAtlantaGeorgiaUnited States NCT02851797-91.5301741.66113COMPLETEDUniversity of Iowa Children's HospitalIowa CityIowaUnited States NCT02851797-93.2638444.97997COMPLETEDUniversity of Minnesota - Department of NeurologyMinneapolisMinnesotaUnited States NCT02851797-90.1978938.62727COMPLETEDWashington University School of Medicine in St Louis - Department of NeurologySt LouisMissouriUnited States NCT02851797-122.6762145.52345COMPLETEDShriners Hospitals for ChildrenPortlandOregonUnited States NCT02851797-75.1636239.95238COMPLETEDThe Children's Hospital of Philadelphia Colket Translational Research BuildingPhiladelphiaPennsylvaniaUnited States NCT02851797-77.4602637.55376COMPLETEDVirginia Commonwealth University Childrens Hospital of Richmond at Virginia Commonwealth UniversityRichmondVirginiaUnited States NCT028517974.7009350.87959COMPLETEDUniversity Hospitals Leuven, Neuromuscular Reference Centre, Child NeurologyLeuvenBelgium NCT028517975.5674950.63373COMPLETEDHospital de La Citadelle, Centre de Référence des Maladies Neuromuscolaires (CRMN)LiègeBelgium NCT02851797-114.0852951.05011COMPLETEDKinsmen Research Centre - Alberta Children's Hospital - Alberta Health ServicesCalgaryAlbertaCanada NCT02851797-123.1193449.24966COMPLETEDThe University of British Columbia, Children's and Womens Health Centre of BC BranchVancouverBritish ColumbiaCanada NCT02851797-79.3986443.70643COMPLETEDHolland Bloorview Kids Rehabilitation HospitalTorontoOntarioCanada NCT02851797-1.5533647.21725COMPLETEDCHU de Nantes - Hotel-Dieu - Hopital Nord Laennec, rez-de-chausse haut ail OuestNantesFrance NCT028517972.348848.85341COMPLETEDHopital Armand Trousseau I-Motion, Plateforme d'essais cliniques pédiatriquesParisFrance NCT028517977.0122851.45657COMPLETEDUniversitatsklinikum Essen - Kinder und Jugendmedizin NeuropadiatrieEssenGermany NCT028517979.9930253.55073COMPLETEDKlinik un Policlinik fur Kinder und Jugendmedizin - Universitatsklinikum Hamburg EppendorfHamburgGermany NCT0285179713.3124351.60698COMPLETEDKlinikum der Uniersitat Munchen - Campus InnenstadtMünchenGermany NCT0285179734.8874732.08707COMPLETEDInstitute of Neurology - Schneider Children's Medical Center of Israel Kaplan, 14Petah TikvaIsrael NCT0285179711.8721145.21604COMPLETEDIRCCS Istituto G.Gaslini, U.O.S.D. Centro Traslazionale di Miologia e Patologie NeurodegenerativeGenovaItaly NCT0285179715.5525638.19394COMPLETEDA.O.U. Policlinico G. Martino, U.O.C. Neurologia e Malattie NeuromuscolariMessinaItaly NCT0285179712.5983642.78235COMPLETEDFondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico di Milano, UOS di Neurologia PediatricaMilanItaly NCT0285179712.5983642.78235COMPLETEDFondazione IRCCS Istituto Neurologico Carlo BestaMilanItaly NCT0285179712.5983642.78235COMPLETEDCentro Clinico NeMO Fondazione Serena ONLUS Area SUDMilanItaly NCT0285179711.1064244.99364COMPLETEDOspedale Pediatrico Bambin Gesù, Malattie Neuromuscolari e NeurodegenerativeRomaItaly NCT0285179711.1064244.99364COMPLETEDFondazione Policlinico Universitario "A.Gemelli", UOC Neuropsichiatria InfantileRomaItaly NCT028517974.4930652.15833COMPLETEDLeiden University Medical Center LUMCLeidenNetherlands NCT028517975.8527851.8425COMPLETEDRadboud University Medical CentreNijmegenNetherlands NCT0285179720.4651344.80401COMPLETEDClinic of Neurology and Psychiatry for Children and Youth - Neurology Department Dr. Subotic 6a,BelgradeSerbia NCT028517972.0880941.37732COMPLETEDHospital Sant Joan de Déu - Neuromuscular Pathology UnitEsplugues de LlobregatBarcelonaSpain NCT028517972.1589941.38879COMPLETEDHospital Materno-Infantil - Passeig de la Vall d'HebronBarcelonaSpain NCT02851797-5.9731737.38283COMPLETEDHospital Universitario Virgen del RocioSevilleSpain NCT02851797-0.3796639.47391COMPLETEDHospital Universitari i Politécnic de la Fe - Servicio NeurologiaValenciaSpain NCT02851797-2.9779453.41058COMPLETEDAlder Hey Children's Hospital NHS TrustLiverpoolUnited Kingdom NCT02851797-0.1257451.50853COMPLETEDUCL Great Ormond Street Institute of Child Health, Dubowitz Neuromuscular Centre and MRC Centre for NMDLondonUnited Kingdom NCT02851797-1.6139654.97328COMPLETEDThe John Walton Muscular Dystrophy Research Centre - Freeman Hospital - Newcastle University - Institute of Genetic MedicineNewcastle upon TyneUnited Kingdom NCT02851797-3.0549752.86195COMPLETEDThe Robert Jones and Agnes Hunt Orthopaedic Hospital - NHS Foundation TrustOswestryUnited Kingdom NCT006547844.7009350.87959COMPLETEDChildren's Hospital, University HospitalLeuvenBelgium NCT007582254.7009350.87959COMPLETEDUniversity Hospitals LeuvenLeuvenBelgium NCT0557564832.8542739.91987COMPLETEDHacettepe UniversityAnkaraTurkey (Türkiye) NCT0583363312.5113341.89193RECRUITINGUNKNOWNClaudia BrognaRomeItalyName: CLAUDIA BROGNA, Role: CONTACT, Phone: +393208103724, Email: claudia.brogna@policlinicogemelli.it Name: CLAUDIA BROGNA, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT0563925712.5655355.67594RECRUITINGUNKNOWNCopenhagen Neuromuscular Center, department of Neurology, RigshospitaletCopenhagenDenmarkName: Grete Andersen, MD, Role: CONTACT, Phone: 004535456135, Email: grete.andersen.01@regionh.dk Name: Grete Andersen, MD, Ph.D., Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: Name: Ida F Finnsen, BA, Role: SUB_INVESTIGATOR, Phone: , Email: Name: John Vissing, MD, PhD, Role: SUB_INVESTIGATOR, Phone: , Email: Name: Nanna Witting, MD, PhD, Role: SUB_INVESTIGATOR, Phone: , Email: NCT02891434-46.63611-23.5475COMPLETEDEscola de Artes,Ciencias e Humanidades da Universidade d Sao PauloSão PauloSão PauloBrazil NCT02069756-77.0363738.89511RECRUITINGRECRUITINGThe Duchenne Registry / PPMDWashington D.C.District of ColumbiaUnited StatesName: Ann Martin, MS, CGC, Role: CONTACT, Phone: 888-520-8675, Email: coordinator@duchenneregistry.org Name: Lauren Bogue, MS, CGC, Role: CONTACT, Phone: 888-520-8675, Email: coordinator@duchenneregistry.org NCT05996003-104.8319239.72943RECRUITINGRECRUITINGChildren's Hospital ColoradoAuroraColoradoUnited StatesName: Hannah Kleiner, Role: CONTACT, Phone: , Email: hannah.kleiner@childrenscolorado.org NCT05996003-81.4166728.30468RECRUITINGRECRUITINGRare Disease Research, LLC - FLKissimmeeFloridaUnited StatesName: Marcial Almaraz, Role: CONTACT, Phone: , Email: marcial.almaraz@rarediseaseresearch.com NCT05996003-84.3879833.749RECRUITINGRECRUITINGRare Disease ResearchAtlantaGeorgiaUnited StatesName: Julia Zhu, Role: CONTACT, Phone: , Email: julia.zhu@rarediseaseresearch.com NCT05996003-87.6500541.85003RECRUITINGRECRUITINGAnn and Robert H. Lurie Children's Hospital of ChicagoChicagoIllinoisUnited StatesName: Raven Hill, Role: CONTACT, Phone: , Email: rhill@luriechildrens.org Name: Alka Maheshwari, Role: CONTACT, Phone: , Email: amaheshwari@luriechildrens.org NCT05996003-94.6274639.11417RECRUITINGRECRUITINGUniversity of Kansas Medical Center (KUMC)Kansas CityKansasUnited StatesName: Rebecca Clay, Role: CONTACT, Phone: , Email: rclay@kumc.edu NCT05996003-84.5143939.12711RECRUITINGRECRUITINGCincinnati Children's Hospital Medical CenterCincinnatiOhioUnited StatesName: Angela Edmondson, Role: CONTACT, Phone: , Email: Angela.Edmondson@cchmc.org NCT05996003-75.1636239.95238RECRUITINGRECRUITINGThe Children's Hospital of Philadelphia (CHOP)PhiladelphiaPennsylvaniaUnited StatesName: Karen Monono, Role: CONTACT, Phone: , Email: mononok@email.chop.edu NCT05996003-79.9958940.44062RECRUITINGRECRUITINGUniversity of Pittsburgh School of MedicinePittsburghPennsylvaniaUnited StatesName: Vibha Chauhan, Role: CONTACT, Phone: , Email: vibha.chauhan@chp.edu NCT05996003-96.8066732.78306RECRUITINGRECRUITINGUT Southwestern/Children's HealthDallasTexasUnited StatesName: Deniece Winston, Role: CONTACT, Phone: , Email: Deniece.Winston@UTSouthwestern.edu NCT05996003-77.4602637.55376RECRUITINGRECRUITINGVirginia Commonwealth University Health SystemRichmondVirginiaUnited StatesName: Andrea Jewell, Role: CONTACT, Phone: , Email: andrea.jewell@vcuhealth.org NCT05996003115.8073-31.98184NOT_YET_RECRUITINGRECRUITINGPerth Children's HospitalNedlandsWestern AustraliaAustraliaName: Jane Jones, Role: CONTACT, Phone: , Email: Jane.Jones2@health.wa.gov.au NCT05996003-114.0852951.05011NOT_YET_RECRUITINGRECRUITINGAlberta Children's HospitalCalgaryAlbertaCanadaName: Julie Dao, Role: CONTACT, Phone: , Email: julie.dao@ucalgary.ca NCT05996003-123.1193449.24966NOT_YET_RECRUITINGRECRUITINGBritish Columbia Children's HospitalVancouverBritish ColumbiaCanadaName: Gabe Massarotto, Role: CONTACT, Phone: , Email: gabe.massarotto@cw.bc.ca NCT05996003-81.2330442.98339RECRUITINGRECRUITINGLondon Health Sciences CentreLondonOntarioCanadaName: Rhiannon Hicks, Role: CONTACT, Phone: , Email: rhiannon.hicks@lhsc.on.ca NCT05996003136.2225736.06443NOT_YET_RECRUITINGRECRUITINGFukui Prefectural HospitalFukui-shiFukuiJapan NCT05996003129.2528.25RECRUITINGRECRUITINGNational Hospital Organization Nagara Medical CenterNagaraGifu-shi, GifuJapanName: Clinical Trial Management Office, Role: CONTACT, Phone: , Email: yonekura.kei.wu@mail.hosp.go.jp NCT05996003135.4693234.78244NOT_YET_RECRUITINGRECRUITINGNHO Osaka Toneyama Medical CenterToyonakaOsakaJapanName: Clinical Trial Office, Role: CONTACT, Phone: , Email: 410-chiken@mail.hosp.go.jp NCT05996003139.4850835.72603NOT_YET_RECRUITINGRECRUITINGNational Center of Neurology and PsychiatryKodairaTokyoJapan NCT05996003174.76349-36.84853NOT_YET_RECRUITINGRECRUITINGStarship Children's HospitalAucklandNew ZealandName: Margaret Joppa, Role: CONTACT, Phone: , Email: mjoppa@adhb.govt.nz NCT05996003129.0335835.34199NOT_YET_RECRUITINGRECRUITINGPusan National University Yangsan HospitalYangsanGyeongsangnamSouth KoreaName: JaeYoon Kim, Role: CONTACT, Phone: , Email: lusterwuzz@naver.com NCT05996003126.978437.566NOT_YET_RECRUITINGRECRUITINGSeoul National University HospitalSeoulSouth KoreaName: Hyeon Ju Kwon, Role: CONTACT, Phone: , Email: hjkwon@snuh.org; 49041@snuh.org NCT0599600332.8542739.91987NOT_YET_RECRUITINGRECRUITINGAnkara Bilkent City HospitalAnkaraTurkey (Türkiye)Name: Gozde Akgun, Role: CONTACT, Phone: , Email: gozde.akgun@medex-smo.com NCT0599600328.9496641.01384NOT_YET_RECRUITINGRECRUITINGYeditepe University Kosuyolu HospitalIstanbulTurkey (Türkiye)Name: Onur Güner, Role: CONTACT, Phone: , Email: onurguner@ascotscience.com NCT0599600327.1383838.41273NOT_YET_RECRUITINGRECRUITINGS.B.U. Dr. Behcet uz Pediatric Diseases and Surgery Training and Research HospitalIzmirTurkey (Türkiye)Name: Zeynep Erturk, Role: CONTACT, Phone: , Email: zeyneperturk@ascotscience.com NCT0524439532.8542739.91987COMPLETEDHacettepe UniversityAnkaraSıhhiyeTurkey (Türkiye) NCT02571205-1.6139654.97328COMPLETEDInstitute of Genetic MedicineNewcastle upon TyneUnited Kingdom NCT02819557-87.1638630.35714COMPLETEDChild Neuro NWFGulf BreezeFloridaUnited States NCT02819557-87.6500541.85003COMPLETEDRush University Medical CenterChicagoIllinoisUnited States NCT02819557-71.0597742.35843COMPLETEDChildren's Hospital BostonBostonMassachusettsUnited States NCT02819557-84.5143939.12711COMPLETEDCincinnati Children's Hospital Medical CenterCincinnatiOhioUnited States NCT02819557-96.8066732.78306COMPLETEDChildren's Medical Center DallasDallasTexasUnited States NCT02819557-111.8910540.76078COMPLETEDUniversity of UtahSalt Lake CityUtahUnited States NCT01128855-82.9987939.96118COMPLETEDGSK Investigational SiteColumbusOhioUnited States NCT011288552.348848.85341COMPLETEDGSK Investigational SiteParisFrance NCT01207908-84.5143939.12711COMPLETEDCincinnati Children's Hospital Medical CenterCincinnatiOhioUnited States NCT03649919121.4580631.22222WITHDRAWNChildren's Hospital of Fudan UniversityShanghaiChina NCT03836300-78.8602935.89709ENROLLING_BY_INVITATIONRTI InternationalResearch Triangle ParkNorth CarolinaUnited States NCT0118376713.4105352.52437COMPLETEDCharité University BerlinBerlinGermany NCT0118376713.4105352.52437COMPLETEDDRK Kliniken Berlin, Westend, PädiatrieBerlinGermany NCT011837678.2147953.14039COMPLETEDDiakonisches Werk Oldenburg SPZOldenburgGermany NCT0224143473.0158219.03681WITHDRAWNNeurogen brain and spine instituteNavi MumbaiMaharashtraIndia NCT0637990628.9496641.01384COMPLETEDHaliç UniversityIstanbulEyüpsultanTurkey (Türkiye) NCT0527455527.1383838.41273COMPLETEDDokuz Eylul UniversityIzmirTurkey (Türkiye) NCT03760029106.5577129.56026COMPLETEDChildren's Hospital of Chongqing Medical UniversityChongqingChongqing MunicipalityChina NCT03760029106.5577129.56026COMPLETEDChildren's Hospital of Chongqing Medical University (Liangjiang Branch)ChongqingChongqing MunicipalityChina NCT03760029119.3061126.06139COMPLETEDThe First Affiliated Hospital Of Fujian Medical UniversityFuzhouFujianChina NCT03760029116.3972339.9075COMPLETEDPeking University First HospitalBeijingChina NCT03760029116.3972339.9075COMPLETEDBeijing Children's Hospital, Capital Medical UniversityBeijingChina NCT03760029121.4580631.22222COMPLETEDHuashan Hospital, Fudan UniversityShanghaiChina NCT03760029121.4580631.22222COMPLETEDAffiliated children's hospital of fudan universityShanghaiChina NCT03760029121.4580631.22222COMPLETEDChildren's Hospital of Fudan UniversityShanghaiChina NCT00847379-121.494438.58157TERMINATEDUniversity of California - DavisSacramentoCaliforniaUnited States NCT00847379-104.8319239.72943TERMINATEDDepartment of Rehabilitation, The Children's HospitalAuroraColoradoUnited States NCT00847379-87.1638630.35714TERMINATEDChild Neurology Center of NW FloridaGulf BreezeFloridaUnited States NCT00847379-91.5301741.66113TERMINATEDUniversity of Iowa Children's Hospital, Division of Child NeurologyIowa CityIowaUnited States NCT00847379-94.6274639.11417TERMINATEDUniversity of Kansas Medical CenterKansas CityKansasUnited States NCT00847379-71.0597742.35843TERMINATEDChildren's Hospital of BostonBostonMassachusettsUnited States NCT00847379-93.2638444.97997TERMINATEDUniversity of MinnesotaMinneapolisMinnesotaUnited States NCT00847379-90.1978938.62727TERMINATEDWashington University Medical SchoolSt LouisMissouriUnited States NCT00847379-74.0059740.71427TERMINATEDColumbia UniversityNew YorkNew YorkUnited States NCT00847379-78.8986235.99403TERMINATEDDuke University Medical CenterDurhamNorth CarolinaUnited States NCT00847379-84.5143939.12711TERMINATEDCincinnati Children's Hospital Medical CenterCincinnatiOhioUnited States NCT00847379-122.6762145.52345TERMINATEDShriners Hospital for Children-PortlandPortlandOregonUnited States NCT00847379-75.1636239.95238TERMINATEDChildren's Hospital of PhiladelphiaPhiladelphiaPennsylvaniaUnited States NCT00847379-96.8066732.78306TERMINATEDSouthwestern UniversityDallasTexasUnited States NCT00847379-111.8910540.76078TERMINATEDUniversity of UtahSalt Lake CityUtahUnited States NCT00847379144.95-37.78333TERMINATEDThe Royal Children's HospitalParkvilleVictoriaAustralia NCT00847379150.98768-33.80383TERMINATEDThe Children's Hospital at WestmeadWestmeadAustralia NCT008473794.7009350.87959TERMINATEDUZ LeuvenLeuvenBelgium NCT00847379-81.2330442.98339TERMINATEDAlberta Children's HospitalLondonOntarioCanada NCT00847379-81.2330442.98339TERMINATEDChildren's Hospital of Western OntarioLondonOntarioCanada NCT00847379-123.1193449.24966TERMINATEDBritish Colombia Children's HopsitalVancouverCanada NCT008473795.3810743.29695TERMINATEDHopital d'Enfants CHU TimoneMarseilleFrance NCT00847379-1.5533647.21725TERMINATEDLaboratoire d'Exploration FonctionnellesNantesFrance NCT008473792.348848.85341TERMINATEDGroupe Hospitalier Pitie-Salpetriere, Institut de MyologieParisFrance NCT008473797.0122851.45657TERMINATEDUniversity of Essen - Clinic for ChildrenEssenGermany NCT008473797.8522247.9959TERMINATEDUniversity HospitalFreiburg im BreisgauGermany NCT0084737935.2163331.76904TERMINATEDHadassah University HopspitalJerusalemIsrael NCT0084737912.5983642.78235TERMINATEDOspedale Maggiore Policlinico, Mangiagalli e Regina ElenaMilanItaly NCT0084737911.1064244.99364TERMINATEDOspedale Pediatrico Bambino GesuRomaItaly NCT0084737911.1064244.99364TERMINATEDU.O. Complessa di Neuropsichiatria Infantile-Policlinico A. Gemelli-Universita CattolicaRomaItaly NCT008473792.1589941.38879TERMINATEDHospital Sant Joan de DeuBarcelonaSpain NCT00847379-0.3796639.47391TERMINATEDHospital Universitario La FeValenciaSpain NCT0084737911.9667957.70716TERMINATEDQueen Silvia Children's HospitalGothenburgSweden NCT0084737918.0687159.32938TERMINATEDAstrid Lindgren Pediatric HospitalStockholmSweden NCT00847379-0.1257451.50853TERMINATEDUCL Instititute of Child Health, DubowitzLondonUnited Kingdom NCT00847379-1.6139654.97328TERMINATEDUniversity of NewcastleNewcastle upon TyneUnited Kingdom NCT00847379-3.0549752.86195TERMINATEDRobert Jones & Agnes Hunt Orthopaedic HospitalOswestryUnited Kingdom NCT03779646116.3972339.9075RECRUITINGUNKNOWNPeking Union Medical College HospitalBeijingBeijing MunicipalityChinaName: Xiaoxiao Guo, Dr., Role: CONTACT, Phone: , Email: NCT01954940-75.6981245.41117COMPLETEDChildren's Hospital of Eastern OntarioOttawaOntarioCanada NCT02834650-118.2436834.05223COMPLETEDUniversity of California, Los AngelesLos AngelesCaliforniaUnited States NCT02834650-117.8531133.78779COMPLETEDChildren's Hospital of Orange CountyOrangeCaliforniaUnited States NCT02834650-122.1660837.42411COMPLETEDStanford UniversityStanfordCaliforniaUnited States NCT07172971-86.1580439.76838NOT_YET_RECRUITINGRiley Hospital at Indiana University HealthIndianapolisIndianaUnited States NCT01396239-82.9987939.96118COMPLETEDNationwide Children's HospitalColumbusOhioUnited States NCT06641895121.4580631.22222RECRUITINGRECRUITINGShanghai Children's Medical Center Affiliated to Shanghai Jiao Tong University School of MedicineShanghaiShanghai MunicipalityChinaName: Jiwen Wang, Role: CONTACT, Phone: 18916613192, Email: wangjiwen@scmc.com.cn NCT00016653-77.0363738.89511COMPLETEDChildren's National Medical CenterWashington D.C.District of ColumbiaUnited States NCT03340675-92.2895934.74648COMPLETEDArkansas Children's HospitalLittle RockArkansasUnited States NCT03340675-118.2436834.05223COMPLETEDMattel Children's HospitalLos AngelesCaliforniaUnited States NCT03340675-77.0363738.89511COMPLETEDChildren's National HospitalWashington D.C.District of ColumbiaUnited States NCT03340675-84.3879833.749COMPLETEDChildren's Healthcare of AtlantaAtlantaGeorgiaUnited States NCT03340675-87.6500541.85003COMPLETEDLurie Children's HospitalChicagoIllinoisUnited States NCT03340675-86.1580439.76838COMPLETEDRiley Children's HospitalIndianapolisIndianaUnited States NCT03340675-76.6121939.29038COMPLETEDKennedy Krieger InstituteBaltimoreMarylandUnited States NCT03340675-90.1978938.62727COMPLETEDSaint. Louis Children's HospitalSt LouisMissouriUnited States NCT03340675-84.5143939.12711COMPLETEDCincinnati Children's Hospital Medical CenterCincinnatiOhioUnited States NCT03340675-86.7844436.16589COMPLETEDMonroe Carrell Jr. Children's Hospital at VanderbiltNashvilleTennesseeUnited States NCT063782039.2945.80075RECRUITINGUNKNOWNScientific Institute IRCCS Eugenio MedeaBosisio PariniLeccoItalyName: Maria G D'Angelo, MD, Role: CONTACT, Phone: 031877111, Email: grazia.dangelo@lanostrafamiglia.it NCT0648566131.2496730.06263RECRUITINGRECRUITINGAin Shams universityCairoEgyptName: Fatma Ebeid, MD, Role: CONTACT, Phone: 00201095569596, Email: dr.fatma_ebeid@yahoo.com Name: Sandra M Mina, Role: CONTACT, Phone: 01060781869, Email: sandramourad922@yahoo.com Name: Mona M Rayan, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT06053814-118.2436834.05223ACTIVE_NOT_RECRUITINGChildren's Hospital Los AngelesLos AngelesCaliforniaUnited States NCT06053814-104.8319239.72943ACTIVE_NOT_RECRUITINGChildren's Hospital ColoradoAuroraColoradoUnited States NCT06053814-87.6500541.85003ACTIVE_NOT_RECRUITINGAnn & Robert H. Lurie Children's Hospital of ChicagoChicagoIllinoisUnited States NCT06053814-94.6274639.11417ACTIVE_NOT_RECRUITINGUniversity of Kansas Medical CenterKansas CityKansasUnited States NCT06053814-75.1636239.95238ACTIVE_NOT_RECRUITINGChildren's Hospital of PhiladelphiaPhiladelphiaPennsylvaniaUnited States NCT06053814-79.9958940.44062ACTIVE_NOT_RECRUITINGUniversity of Pittsburgh Medical CenterPittsburghPennsylvaniaUnited States NCT06053814-114.0852951.05011ACTIVE_NOT_RECRUITINGAlberta Children's HospitalCalgaryAlbertaCanada NCT06053814-123.1193449.24966ACTIVE_NOT_RECRUITINGBritish Columbia Children's HospitalVancouverBritish ColumbiaCanada NCT06053814-81.2330442.98339ACTIVE_NOT_RECRUITINGLondon Health Sciences CentreLondonOntarioCanada NCT06053814135.3319934.71562ACTIVE_NOT_RECRUITINGHyogo Medical University HospitalNishinomiyaHyōgoJapan NCT06053814140.8666738.26667ACTIVE_NOT_RECRUITINGMiyagi Children's HospitalSendaiMiyagiJapan NCT06053814135.4693234.78244ACTIVE_NOT_RECRUITINGNHO Osaka Toneyama Medical CenterToyonakaOsakaJapan NCT06053814139.4850835.72603ACTIVE_NOT_RECRUITINGNational Center of Neurology and PsychiatryKodairaTokyoJapan NCT06053814129.0335835.34199ACTIVE_NOT_RECRUITINGPusan National University Yangsan HospitalYangsanGyeongsangnam-doSouth Korea NCT06053814126.978437.566ACTIVE_NOT_RECRUITINGSeoul National University HospitalSeoulSouth Korea NCT0605381432.8542739.91987ACTIVE_NOT_RECRUITINGAnkara Bilkent City HospitalAnkaraTurkey (Türkiye) NCT0605381428.9496641.01384ACTIVE_NOT_RECRUITINGIstanbul UniversityIstanbulTurkey (Türkiye) NCT0605381428.9496641.01384ACTIVE_NOT_RECRUITINGYeditepe University Kosuyolu HospitalIstanbulTurkey (Türkiye) NCT0417323432.8542739.91987COMPLETEDHacettepe University, Faculty of Physical Therapy and RehabilitationAnkaraAltındağTurkey (Türkiye) NCT01153932150.98768-33.80383COMPLETEDGSK Investigational SiteWestmeadNew South WalesAustralia NCT01153932144.95-37.78333COMPLETEDGSK Investigational SiteParkvilleVictoriaAustralia NCT011539323.7166751.05COMPLETEDGSK Investigational SiteGhentBelgium NCT011539322.348848.85341COMPLETEDGSK Investigational SiteParisFrance NCT011539327.8522247.9959COMPLETEDGSK Investigational SiteFreiburg im BreisgauBaden-WurttembergGermany NCT011539327.0122851.45657COMPLETEDGSK Investigational SiteEssenNorth Rhine-WestphaliaGermany NCT0115393235.2163331.76904COMPLETEDGSK Investigational SiteJerusalemIsrael NCT011539325.8527851.8425COMPLETEDGSK Investigational SiteNijmegenNetherlands NCT01153932-0.3796639.47391COMPLETEDGSK Investigational SiteValenciaSpain NCT0115393232.8542739.91987COMPLETEDGSK Investigational SiteAnkaraTurkey (Türkiye) NCT01153932-0.1257451.50853COMPLETEDGSK Investigational SiteLondonUnited Kingdom NCT01153932-1.6139654.97328COMPLETEDGSK Investigational SiteNewcastle upon TyneUnited Kingdom NCT07429240-92.2895934.74648RECRUITINGRECRUITINGArkansas Children's HospitalLittle RockArkansasUnited StatesName: Kristin MacLean, Role: CONTACT, Phone: 501-364-2079, Email: MacleanKD@archildrens.org Name: Aravindhan Veerapandiyan, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT0746718712.5655355.67594RECRUITINGRECRUITINGRespiratory Center EastCopenhagenDenmarkName: Janne B Stokholm, Role: CONTACT, Phone: +45 38632376, Email: janne.boegh.stokholm.01@regionh.dk Name: Anne-Katrine Staehr-Rye, Role: CONTACT, Phone: +45 24455276, Email: anne.kathrine.staehr.rye@regionh.dk Name: Janne B Stokholm, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT063668159.2945.80075RECRUITINGRECRUITINGIRCCS Eugenio Medea - Ass. "La Nostra Famiglia"Bosisio PariniLcItalyName: Eleonora Diella, Role: CONTACT, Phone: , Email: eleonora.diella@lanostrafamiglia.it Name: Noemi Miscioscia, Role: CONTACT, Phone: , Email: noemi.miscioscia@lanostrafamiglia.it Name: Eleonora Diella, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT0636681511.1064244.99364RECRUITINGRECRUITINGFondazione Policlinico Universitario A. Gemelli IRCCSRomaItalyName: Marika Pane, Role: CONTACT, Phone: +390630156742, Email: marika.pane@policlinicogemelli.it Name: Daniela Leone, Role: CONTACT, Phone: +390630158821, Email: daniela.leone@policlinicogemelli.it NCT00159250-0.1257451.50853COMPLETEDDubowitz Neuromuscular Centre, Hammersmith Hospital and Clinical Trails Unit, St Mary's HospitalLondonUnited Kingdom NCT039858783.7166751.05TERMINATEDUZ-GentGhentBelgium NCT039858782.348848.85341TERMINATEDHopital Trousseau, Bâtiment lemarieyParisFrance NCT0398587812.5113341.89193TERMINATEDFondazione Policlinico Universitario Agostino Gemelli, UOC Neuropsichiatria InfantileRomeItaly NCT03985878-0.1257451.50853TERMINATEDUCL Great Ormond Street Institute of Child Health, Dubowitz Neuromuscular CentreLondonEnglandUnited Kingdom NCT00428935-82.9987939.96118COMPLETEDColumbus Children's HospitalColumbusOhioUnited States NCT01519349-82.9987939.96118COMPLETEDNationwide Children's HospitalColumbusOhioUnited States NCT04587908130.6215832.51879ACTIVE_NOT_RECRUITINGA site selected by Taiho Pharmaceutical Co., Ltd.AichiJapan NCT04587908130.4166733.6ACTIVE_NOT_RECRUITINGA site selected by Taiho Pharmaceutical Co., Ltd.FukuokaJapan NCT04587908135.5010734.69379ACTIVE_NOT_RECRUITINGA site selected by Taiho Pharmaceutical Co., Ltd.OsakaJapan NCT04587908139.6917135.6895ACTIVE_NOT_RECRUITINGA site selected by Taiho Pharmaceutical Co., Ltd.TokyoJapan NCT00308113-79.9958940.44062TERMINATEDUniversity of PittsburghPittsburghPennsylvaniaUnited States NCT01847573-121.494438.58157TERMINATEDUniversity of California, Davis Medical CenterSacramentoCaliforniaUnited States NCT01847573-76.6121939.29038TERMINATEDKennedy Krieger Institute, Johns Hopkins School of MedicineBaltimoreMarylandUnited States NCT01847573-90.1978938.62727TERMINATEDWashington University School of MedicineSt LouisMissouriUnited States NCT01847573-84.5143939.12711TERMINATEDCincinnati Children's Hospital Medical CenterCincinnatiOhioUnited States NCT01847573-82.9987939.96118TERMINATEDNationwide Children's HospitalColumbusOhioUnited States NCT00799266150.98768-33.80383COMPLETEDNovartis Investigative SiteWestmeadNew South WalesAustralia NCT00799266-123.1193449.24966COMPLETEDNovartis Investigative SiteVancouverBritish ColumbiaCanada NCT00799266-97.1470449.8844COMPLETEDNovartis Investigative SiteWinnipegManitobaCanada NCT00799266-75.6981245.41117COMPLETEDNovartis Investigative SiteOttawaOntarioCanada NCT00799266-73.5878145.50884COMPLETEDNovartis Investigative SiteMontrealQuebecCanada NCT00799266-73.5878145.50884COMPLETEDNovartis Investigative SiteMontrealQuebecCanada NCT0079926619.0404547.49835COMPLETEDNovartis Investigative SiteBudapestHungary NCT0079926637.6178155.75204COMPLETEDNovartis Investigative SiteMoscowRussia NCT0079926630.3141359.93863COMPLETEDNovartis Investigative SiteSaint PetersburgRussia NCT0079926627.85849-26.26781COMPLETEDNovartis Investigative SiteSowetoGautengSouth Africa NCT00799266-2.2374353.48095COMPLETEDNovartis Investigative SiteManchesterUnited Kingdom NCT0725498812.5655355.67594TERMINATEDRigshospitaletCopenhagenDenmark NCT02515669-118.2436834.05223TERMINATEDDavid Geffen School of Medicine at UCLALos AngelesCaliforniaUnited States NCT02515669-122.1430237.44188TERMINATEDStanford UniversityPalo AltoCaliforniaUnited States NCT02515669-82.3248329.65163TERMINATEDUniversity of FloridaGainesvilleFloridaUnited States NCT02515669-81.3792428.53834TERMINATEDNemours Children's HospitalOrlandoFloridaUnited States NCT02515669-84.3879833.749TERMINATEDChildren's Healthcare of AtlantaAtlantaGeorgiaUnited States NCT02515669-87.6500541.85003TERMINATEDRush University Medical CenterChicagoIllinoisUnited States NCT02515669-94.6274639.11417TERMINATEDUniversity of Kansas Medical CenterKansas CityKansasUnited States NCT02515669-76.6121939.29038TERMINATEDKennedy Krieger InstituteBaltimoreMarylandUnited States NCT02515669-90.1978938.62727TERMINATEDSaint Louis Children's HospitalSt LouisMissouriUnited States NCT02515669-84.5143939.12711TERMINATEDCincinnati Children's Hospital Medical CenterCincinnatiOhioUnited States NCT02515669-114.0852951.05011TERMINATEDAlberta Children's HospitalCalgaryAlbertaCanada NCT02515669-75.6981245.41117TERMINATEDChildren'S Hospital of Eastern OntarioOttawaOntarioCanada NCT059330574.7009350.87959RECRUITINGRECRUITINGUniversitaire Ziekenhuizen LeuvenLeuvenBelgiumName: , Role: CONTACT, Phone: +3216348177, Email: eline.cuveele@uzleuven.be Name: Liesbeth De Waele, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT05933057-123.1193449.24966RECRUITINGRECRUITINGBritish Columbia Children's HospitalVancouverBritish ColumbiaCanadaName: , Role: CONTACT, Phone: 604-875-2345, Email: Nmartic3@cw.bc.ca Name: Kathryn Selby, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT05933057-81.2330442.98339RECRUITINGRECRUITINGThe University of Western Ontario - Children's Health Research InstituteLondonOntarioCanadaName: , Role: CONTACT, Phone: +1 519-685-8441, Email: rhiannon.hicks@lhsc.on.ca Name: Craig Campbell, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT05933057-75.6981245.41117RECRUITINGRECRUITINGUniversity of Ottawa - Children's Hospital of Eastern OntarioOttawaOntarioCanadaName: , Role: CONTACT, Phone: +1 613-737-7600, Email: ehillsmith@cheo.on.ca Name: Hugh McMillan, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT05933057-79.3986443.70643RECRUITINGRECRUITINGUniversity of Toronto - Holland Bloorview Kids Rehabilitation HospitalTorontoOntarioCanadaName: , Role: CONTACT, Phone: , Email: neuromuscular.research@hollandbloorview.ca Name: Laura McAdam, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT059330573.0551250.63391RECRUITINGRECRUITINGCentre Hospitalier Régional Universitaire de LilleLilleFranceName: , Role: CONTACT, Phone: +33 (3) 20 44 60 58, Email: cicpediatrie@chru-lille.fr Name: Jean-Baptiste Davion, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT059330575.3810743.29695RECRUITINGRECRUITINGCentre hospitalier universitaire - Hôpitaux de MarseilleMarseilleFranceName: , Role: CONTACT, Phone: +33 4 91 38 68 17, Email: cecile.halbert@ap-hm.fr Name: Cecile Halbert, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT059330572.348848.85341RECRUITINGRECRUITINGHôpital Armand-Trousseau - I-MotionParisFranceName: , Role: CONTACT, Phone: +33 1 44 73 65 37, Email: consultation-imotion@institut-myologie.org Name: Marina Colella, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT0593305713.4105352.52437RECRUITINGRECRUITINGCharite-Universitaetsmedizin BerlinBerlinGermanyName: , Role: CONTACT, Phone: , Email: neuropaed-studie@charite.de Name: Joanna Schneider, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT059330577.8522247.9959RECRUITINGRECRUITINGUniversitaetsklinikum FreiburgFreiburg im BreisgauGermanyName: , Role: CONTACT, Phone: +49 (0)76127043000, Email: muskelzentrum@uniklinik-freiburg.de Name: Janbernd Kirschner, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT059330579.3970445.85589RECRUITINGRECRUITINGAssociazione La Nostra Famiglia - IRCCS Eugenio Medea - Bosisio PariniLeccoItalyName: , Role: CONTACT, Phone: +39031-877111, Email: grazia.dangelo@lanostrafamiglia.it Name: Maria Grazia D´Angelo, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT0593305712.5983642.78235RECRUITINGRECRUITINGFondazione Serena Onlus - Azienda Ospedaliera Niguarda Ca' Granda - NeuroMuscular OmnicentreMilanItalyName: , Role: CONTACT, Phone: (+39) 0291433764, Email: crc@centrocliniconemo.it Name: Valeria Sansone, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT0593305711.1426144.38225RECRUITINGRECRUITINGUniversità degli Studi di Padova - Azienda Ospedaliera di PadovaPadovaItalyName: , Role: CONTACT, Phone: +39 049 8213622, Email: elena.pegoraro@unipd.it Name: , Role: CONTACT, Phone: , Email: luca.bello@unipd.it Name: Elena Pegoraro, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT0593305711.1064244.99364RECRUITINGRECRUITINGOspedale Pediatrico Bambino GesùRomaItalyName: , Role: CONTACT, Phone: +39 06 68592105, Email: adele2.damico@opbg.net Name: , Role: CONTACT, Phone: , Email: clinicineuromuscolari@OPBGMAIL.onmicrosoft.com Name: Adele D´Amico, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT0593305711.1064244.99364RECRUITINGRECRUITINGPoliclinico Universitario Agostino Gemelli - Università Cattolica del Sacro CuoreRomaItalyName: , Role: CONTACT, Phone: +39 0630158576, Email: eugeniomaria.mercuri@policlinicogemelli.it Name: Eugenio M Mercuri, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT059330574.4930652.15833RECRUITINGRECRUITINGLeids Universitair Medisch Centrum (LUMC)LeidenNetherlandsName: , Role: CONTACT, Phone: , Email: duchenne@lumc.nl Name: Erik Niks, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT059330575.8527851.8425RECRUITINGRECRUITINGRadboud Universitair Medisch Centrum (Radboudumc)NijmegenNetherlandsName: , Role: CONTACT, Phone: +31(0)650176591, Email: clinicaltrials.reval@radboudumc.nl Name: Saskia Houwen-van Opstal, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT05933057-1.6139654.97328ACTIVE_NOT_RECRUITINGRECRUITINGNewcastle upon Tyne Hospitals NHS Foundation Trust - Newcastle UniversityNewcastle upon TyneEnglandUnited Kingdom NCT05933057-1.2559651.75222WITHDRAWNRECRUITINGOxford University Hospitals NHS Foundation TrustOxfordEnglandUnited Kingdom NCT05933057-4.2576355.86515ACTIVE_NOT_RECRUITINGRECRUITINGNHS Greater Glasgow and Clyde - Royal Hospital for ChildrenGlasgowScotlandUnited Kingdom NCT03863119-121.7405238.54491AVAILABLEAVAILABLEUniversity of California DavisDavisCaliforniaUnited StatesName: Craig McDonald, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT03863119-81.3792428.53834AVAILABLEAVAILABLENemours Children's HospitalOrlandoFloridaUnited StatesName: Omer Abdul Hamid, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT03863119-87.6500541.85003AVAILABLEAVAILABLEurie Children's Hospital of ChicagoChicagoIllinoisUnited StatesName: Nancy L. Kuntz, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT03863119-78.8986235.99403AVAILABLEAVAILABLEDuke UniversityDurhamNorth CarolinaUnited StatesName: Mai K. ElMallah, M.D., Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT03863119-96.8066732.78306AVAILABLEAVAILABLEUniversity of Texas Southwestern Medical CenterDallasTexasUnited StatesName: Kaitlin Batley, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT03863119-122.3320747.60621AVAILABLEAVAILABLESeattle Children'sSeattleWashingtonUnited StatesName: Seth J. Perlman, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT03863119-114.0852951.05011AVAILABLEAVAILABLEAlberta's Children HospitalCalgaryAlbertaCanadaName: Julie Dao, Role: CONTACT, Phone: 4059552296, Email: Name: Jean Mah, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT03863119-123.1193449.24966AVAILABLEAVAILABLEBritish Columbia Children's HospitalVancouverBritish ColumbiaCanadaName: Kathryn Selby, Role: CONTACT, Phone: 604-875-2345, Email: selby@cw.bc.ca Name: Nela Martic, Role: CONTACT, Phone: , Email: NMartic3@cw.bc.ca NCT03863119-75.6981245.41117AVAILABLEAVAILABLEChildren's Hospital of Eastern OntarioOttawaOntarioCanadaName: Laura Thompson, Role: CONTACT, Phone: (613) 737-7600, Email: LaThompson@cheo.on.ca Name: Hanns Lochmuller, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT03863119-79.3986443.70643AVAILABLEAVAILABLEThe Hospital for Sick ChildrenTorontoOntarioCanadaName: Ana Stosic, Role: CONTACT, Phone: 416- 813-5668, Email: ana.stosic@sickkids.ca Name: Hernan Gonorazky, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT03863119-73.5878145.50884AVAILABLEAVAILABLEMontreal Childrens HospitalMontrealQuebecCanadaName: Maryam Oskoui, Role: CONTACT, Phone: , Email: maryam.oskoui@mcgill.ca Name: Maryam Oskoui, MD, M.Sc., Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT0386311934.8874732.08707AVAILABLEAVAILABLESchneider Chidlren's Medical CenterPetah TikvaIsraelName: Yoram Nevo, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT01826487-118.2436834.05223COMPLETEDUniversity of California, Los AngelesLos AngelesCaliforniaUnited States NCT01826487-121.494438.58157COMPLETEDUC Davis Medical CenterSacramentoCaliforniaUnited States NCT01826487-104.8319239.72943COMPLETEDChildren's Hospital Colorado - Center for Cancer and Blood DisordersAuroraColoradoUnited States NCT01826487-87.1638630.35714COMPLETEDChild Neurology Center of Northwest FloridaGulf BreezeFloridaUnited States NCT01826487-87.6500541.85003COMPLETEDRush University Medical CenterChicagoIllinoisUnited States NCT01826487-91.5301741.66113COMPLETEDUniversity of IowaIowa CityIowaUnited States NCT01826487-94.6274639.11417COMPLETEDUniversity of Kansas Medical CenterKansas CityKansasUnited States NCT01826487-71.0597742.35843COMPLETEDBoston Children's HospitalBostonMassachusettsUnited States NCT01826487-71.0597742.35843COMPLETEDChildren's Hospital BostonBostonMassachusettsUnited States NCT01826487-93.2638444.97997COMPLETEDUniversity of MinnesotaMinneapolisMinnesotaUnited States NCT01826487-90.1978938.62727COMPLETEDWashington University School of Medicine, Division of Endocrinology, Metabolism and Lipid ResearchSt LouisMissouriUnited States NCT01826487-74.0059740.71427COMPLETEDColumbia University College of Physicians & SurgeonsNew YorkNew YorkUnited States NCT01826487-84.5143939.12711COMPLETEDCincinnati Children's Hospital Medical CenterCincinnatiOhioUnited States NCT01826487-82.9987939.96118COMPLETEDNationwide Children's HospitalColumbusOhioUnited States NCT01826487-122.6762145.52345COMPLETEDOregon Health & Science UniversityPortlandOregonUnited States NCT01826487-75.1636239.95238COMPLETEDThe Children's Hospital of PhiladelphiaPhiladelphiaPennsylvaniaUnited States NCT01826487-79.9958940.44062COMPLETEDChildren's Hospital of PittsburghPittsburghPennsylvaniaUnited States NCT01826487-96.8066732.78306COMPLETEDChildrens Medical Center Dallas, TexasDallasTexasUnited States NCT01826487-95.3632729.76328COMPLETEDTexas Children's HospitalHoustonTexasUnited States NCT01826487-111.8910540.76078COMPLETEDUniversity of UtahSalt Lake CityUtahUnited States NCT01826487-122.3320747.60621COMPLETEDSeattle Children's Hospital - Childhood Cancer and Blood DisordersSeattleWashingtonUnited States NCT01826487150.98768-33.80383COMPLETEDThe Children's Hospital at WestmeadWestmeadNew South WalesAustralia NCT01826487144.95-37.78333COMPLETEDThe Royal Children's HospitalParkvilleVictoriaAustralia NCT018264874.7009350.87959COMPLETEDUZ LeuvenLeuvenBelgium NCT01826487-43.18223-22.90642COMPLETEDUniversidade Federal do Rio de Janeiro - Instituto de Puericultura e Pediatria Martagao GesteiraRio de JaneiroBrazil NCT01826487-46.63611-23.5475COMPLETEDSao Paulo University -HC/FMUSPSão PauloBrazil NCT01826487-114.0852951.05011COMPLETEDAlberta Children's HospitalCalgaryAlbertaCanada NCT01826487-123.1193449.24966COMPLETEDBritish Columbia Children's HospitalVancouverBritish ColumbiaCanada NCT01826487-81.2330442.98339COMPLETEDChildren's Hospital of Western OntarioLondonOntarioCanada NCT01826487-70.64827-33.45694COMPLETEDHospital Luis Calvo MackennaSantiagoSantiago MetropolitanChile NCT01826487-70.64827-33.45694COMPLETEDHospital Clinico Universidad CatolicaSantiagoChile NCT0182648716.6079649.19522COMPLETEDUniversity Hospital BrnoBrnoCzechia NCT0182648714.4207650.08804COMPLETEDMotol University HospitalPragueCzechia NCT018264875.3810743.29695COMPLETEDHospital de la TimoneMarseilleFrance NCT01826487-1.5533647.21725COMPLETEDCHU de NantesNantesFrance NCT018264872.348848.85341COMPLETEDHopital Necker - Enfants MaladesParisFrance NCT018264872.348848.85341COMPLETEDGroupe Hospitalier La Pitie-SalpetriereParisFrance NCT018264877.0122851.45657COMPLETEDUniversity of Essen-DuisburgEssenGermany NCT018264877.8522247.9959COMPLETEDUniversity Hospital Medical Center FreiburgFreiburg im BreisgauGermany NCT0182648735.2163331.76904COMPLETEDHadassah University HospitalJerusalemIsrael NCT0182648715.5525638.19394COMPLETEDPoliclinico Universitario G. MartinoMessinaSicilyItaly NCT018264879.1895145.46427COMPLETEDFondazione IRCS Ca Granda Ospedale Maggiore Policlinico di MilanoMilanItaly NCT0182648712.5113341.89193COMPLETEDBambino Gesu HospitalRomeItaly NCT0182648712.5113341.89193COMPLETEDU.O. Complessa di Neuropsichiatria InfantileRomeItaly NCT0182648721.0117852.22977COMPLETEDMedical University of WarsawWarsawPoland NCT01826487126.978437.566COMPLETEDSeoul National University HospitalSeoulSouth Korea NCT018264872.1589941.38879COMPLETEDHospital Sant Joan de DeuBarcelonaSpain NCT01826487-0.3796639.47391COMPLETEDHospital Universitari i Politecnic la FeValenciaSpain NCT0182648711.9667957.70716COMPLETEDQueen Silvia Children's HospitalGothenburgSweden NCT0182648718.0687159.32938COMPLETEDAstrid Lindgren Childrens HospitalStockholmSweden NCT018264876.6328246.516COMPLETEDCHUV LausanneLausanneSwitzerland NCT0182648732.8542739.91987COMPLETEDHacettepe Childrens HospitalAnkaraTurkey (Türkiye) NCT01826487-0.1257451.50853COMPLETEDUniversity College London Institute of Child HealthLondonUnited Kingdom NCT01826487-2.2374353.48095COMPLETEDRoyal Manchester Children's HospitalManchesterUnited Kingdom NCT01826487-1.6139654.97328COMPLETEDThe Newcastle upon Tyne Hospitals, NHS Foundation TrustNewcastle upon TyneUnited Kingdom NCT067696334.3487850.85045RECRUITINGRECRUITINGQueen Fabiola Children's University Hospital HUDERFBrusselsBelgiumName: Nicolas Deconinck, MD, Role: CONTACT, Phone: +32 2 4772945, Email: nicolas.deconink@hubruxelles.be NCT0676963312.5983642.78235RECRUITINGRECRUITINGFondazione Serena Onlus - Azienda Ospedaliera Niguarda Ca' Granda - NeuroMuscolar OmnicenterMilanItalyName: Valeria Sansone, MD, Role: CONTACT, Phone: , Email: valeria.sansone@centrocliniconemo.it NCT0676963311.1064244.99364RECRUITINGRECRUITINGOspedale Pediatrico Bambino GesùRomaItalyName: Adele D'Amico, MD, Role: CONTACT, Phone: +39 06 68592105, Email: adele2.damico@opbg.net NCT0676963311.1064244.99364RECRUITINGRECRUITINGPoliclinico Universitario Agostino Gemelli - Università Cattolica del Sacro CuoreRomaItalyName: Eugenio Mercuri, MD, Role: CONTACT, Phone: +39 06 30158576, Email: eugeniomaria.mercuri@policlinicogemelli.it NCT067696334.4930652.15833RECRUITINGRECRUITINGLeids Universitair Medisch Centrum (LUMC)LeidenNetherlandsName: Erik Niks, MD, Role: CONTACT, Phone: , Email: duchenne@lumc.nl NCT06769633-1.5478553.79648NOT_YET_RECRUITINGRECRUITINGLeeds Teaching Hospital NHS TrustLeedsEnglandUnited KingdomName: Anne-Marie Childs, MD, Role: CONTACT, Phone: , Email: anne-marie.childs@nhs.net NCT06769633-0.1257451.50853NOT_YET_RECRUITINGRECRUITINGGreat Ormond Street Hospital - GOSHLondonEnglandUnited KingdomName: Mariacristina Scoto, MD, Role: CONTACT, Phone: , Email: Mariacristina Scoto <Mariacristina.Scoto@gosh.nhs.uk> NCT06769633-1.6139654.97328RECRUITINGRECRUITINGNewcastle upon Tyne Hospitals NHS Foundation Trust - Newcastle UniversityNewcastle upon TyneEnglandUnited KingdomName: Michela Guglieri, MD, Role: CONTACT, Phone: , Email: Michela Guglieri <michela.guglieri@newcastle.ac.uk> NCT06769633-1.2559651.75222RECRUITINGRECRUITINGOxford University Hospitals NHS Foundation TrustOxfordEnglandUnited KingdomName: Laurent Servais, MD, Role: CONTACT, Phone: , Email: Laurent Servais <laurent.servais@paediatrics.ox.ac.uk> NCT01484678-82.3248329.65163RECRUITINGRECRUITINGUniversity of FloridaGainesvilleFloridaUnited StatesName: Krista Vandenborne, PhD, Role: CONTACT, Phone: 352-273-6100, Email: kvandenb@phhp.ufl.edu Name: Kelly Rock, PhD, Role: CONTACT, Phone: 352-294-5798, Email: k.rock@phhp.ufl.edu Name: Krista Vandenborne, PhD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT01484678-122.6762145.52345RECRUITINGRECRUITINGOregon Health and Science UniversityPortlandOregonUnited StatesName: William Rooney, PhD, Role: CONTACT, Phone: 503-418-1532, Email: rooneyw@ohsu.edu Name: Olivia Huerta, Role: CONTACT, Phone: 971-347-6084, Email: huertao@ohsu.edu Name: Bill Rooney, PhD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT01484678-75.1636239.95238ACTIVE_NOT_RECRUITINGRECRUITINGChildren's Hospital of PhiladelphiaPhiladelphiaPennsylvaniaUnited States NCT01070511-118.2436834.05223COMPLETEDCedars-Sinai Medical CenterLos AngelesCaliforniaUnited States NCT01070511-118.2436834.05223COMPLETEDCedars Sinai Medical CenterLos AngelesCaliforniaUnited States NCT00312247-118.2436834.05223COMPLETEDUCLA Department of Orthopaedic SurgeryLos AngelesCaliforniaUnited States NCT00312247-121.494438.58157COMPLETEDShriners Hospitals for ChildrenSacramentoCaliforniaUnited States NCT00312247-122.6762145.52345COMPLETEDShriners Hospitals for ChildrenPortlandOregonUnited States NCT0566107132.8542739.91987UNKNOWNHacettepe University, Faculty of Physical Therapy and Rehabilitation, Pediatric Neuromuscular Diseases Unit for physiotherapy and rehabilitationAnkaraTurkey (Türkiye) NCT02168114-82.3248329.65163COMPLETEDUniversity of FloridaGainesvilleFloridaUnited States NCT024183383.8763543.61093COMPLETEDPediatric and Congenital Cardiology and Pulmonology Department, Arnaud De Villeneuve University HospitalMontpellierFrance NCT06244082-92.2895934.74648ACTIVE_NOT_RECRUITINGArkansas Children&amp;#39;s HospitalLittle RockArkansasUnited States NCT06244082-117.274232.84727ACTIVE_NOT_RECRUITINGUniversity of California, San Diego, Rady&#39;s Children&#39;s HospitalLa JollaCaliforniaUnited States NCT06244082-121.494438.58157ACTIVE_NOT_RECRUITINGUC Davis Medical CenterSacramentoCaliforniaUnited States NCT06244082-122.2605237.50716ACTIVE_NOT_RECRUITINGLucille Packard Children&amp;#39;s Hospital at StanfordSan CarlosCaliforniaUnited States NCT06244082-84.3879833.749ACTIVE_NOT_RECRUITINGRare Disease Research - AtlantaAtlantaGeorgiaUnited States NCT06244082-71.8022942.26259ACTIVE_NOT_RECRUITINGUniversity of Massachusetts Medical SchoolWorcesterMassachusettsUnited States NCT06244082-93.0932744.94441ACTIVE_NOT_RECRUITINGGillette Children&#39;s Specialty HealthcareSaint PaulMinnesotaUnited States NCT06244082-79.0997336.07542ACTIVE_NOT_RECRUITINGRare Disease ResearchHillsboroughNorth CarolinaUnited States NCT06244082-82.9987939.96118ACTIVE_NOT_RECRUITINGAbigail Wexner Research Institute at Nationwide Children&#39;s HospitalColumbusOhioUnited States NCT06244082-97.1330733.21484ACTIVE_NOT_RECRUITINGNeurology Rare Disease CenterDentonTexasUnited States NCT0434956612.5655355.67594COMPLETEDNeuromuscular Research Unit, 3342CopenhagenDenmark NCT02614820116.3972339.9075RECRUITINGUNKNOWNShiwen wuBeijingChinaName: wu shiwen, Dr., Role: CONTACT, Phone: 13910238117, Email: wu_shiwen@yahoo.com NCT0236973114.2861148.30639COMPLETEDKrankenhaus der Barmherzigen Schwestern LinzLinzAustria NCT0236973116.3720848.20849COMPLETEDSozialmedizinisches Zentrum Süd Kaiser-Franz-Josef Spital mit Gottfried von Preyer´schen KinderspitalViennaAustria NCT02369731-46.63611-23.5475COMPLETEDHospital das Clínicas da Universidade de São PauloSão PauloBrazil NCT0236973116.6079649.19522COMPLETEDThe University Hospital BrnoBrnoCzechia NCT02369731-0.5804644.84124COMPLETEDCHU de Bordeaux Hôpital Pellegrin EnfantBordeauxFrance NCT02369731-4.4862848.39029COMPLETEDCHRU de Brest Hôpital MorvanBrestFrance NCT023697314.9130345.73865COMPLETEDHospices Civils de Lyon Groupement Hospitalier Est - Bâtiment "Les Tilleuls"BronFrance NCT023697313.0868245.77969COMPLETEDCHU de Clermont-Ferrand, hôpital EstaingClermont-FerrandFrance NCT023697313.0551250.63391COMPLETEDCHRU de LilleLilleFrance NCT023697315.3810743.29695COMPLETEDCHU de Marseille Hôpital de la TimoneMarseilleFrance NCT02369731-1.5533647.21725COMPLETEDCHU de NantesNantesFrance NCT023697312.348848.85341COMPLETEDHôpital Armand TrousseauParisFrance NCT023697312.348848.85341COMPLETEDHôpital Necker - Enfants maladesParisFrance NCT023697314.0285349.26526COMPLETEDCHU de Reims American Memorial HospitalReimsFrance NCT023697314.3945.43389COMPLETEDCHU de Saint-Etienne Hôpital BellevueSaint-EtienneFrance NCT023697315.4068243.29282COMPLETEDCHU de la Réunion - GHSR - GH Sud-RéunionSaint-PierreFrance NCT023697317.7455348.58392COMPLETEDCHU de StrasbourgStrasbourgFrance NCT023697311.4436743.60426COMPLETEDCHU de Toulouse Hôpital Pierre Paul RiquetToulouseFrance NCT023697310.7039847.39484COMPLETEDCHRU de Tours Hôpital BretonneauToursFrance NCT023697316.1711448.66115COMPLETEDCHU de Nancy Hôpital de Brabois-Enfants Rue du MorvanVandœuvre-lès-NancyFrance NCT0236973111.5789349.94782COMPLETEDKlinikum Bayreuth GmbHBayreuthGermany NCT0236973113.4105352.52437COMPLETEDSozialpädiatrisches Zentrum (SPZ) Charité BerlinBerlinGermany NCT0236973111.0078349.59099COMPLETEDUniversitätsklinikum ErlangenErlangenGermany NCT023697317.0122851.45657COMPLETEDUniversitaetsklinikum Essen (AoR)EssenGermany NCT023697318.6841750.11552COMPLETEDSPZ Frankfurt MitteFrankfurt am MainGermany NCT023697317.8522247.9959COMPLETEDUniversitaetsklinikum FreiburgFreiburg im BreisgauGermany NCT0236973110.9885649.47593COMPLETEDMVZ Kinder- und Jugendärzte Fürth GmbHFürthGermany NCT023697318.6755450.58727COMPLETEDUniversitätskinderklinik GießenGiessenGermany NCT023697319.9930253.55073COMPLETEDKlinik und Poliklinik f. Kinder- und JugendmedizinHamburgGermany NCT023697319.551.31667COMPLETEDMuskelzentrum, Schwerpunkt NeuropädiatrieKasselGermany NCT0236973123.7278437.98376COMPLETEDChildren's Hospital "Aghia Sophia"AthensGreece NCT0236973122.9349340.64072COMPLETEDAhepa University HospitalThessalonikiGreece NCT0236973119.0404547.49835COMPLETEDSemmelweis Egyetem II (Semmelweis University II)BudapestHungary NCT0236973119.0404547.49835COMPLETEDSzent László Kórház Gyermekneurológiai szakrendelésBudapestHungary NCT0236973135.2163331.76904COMPLETEDHadassah Mount Scopus Medical CenterJerusalemIsrael NCT0236973134.8874732.08707COMPLETEDSchneider Medical Center Tel Aviv UniversityPetah TikvaIsrael NCT0236973134.8106532.08227COMPLETEDSheba Medical Center The Joseph Sagol EMG, Neuroscience CenterRamat GanIsrael NCT0236973111.3387544.49381COMPLETEDIRCSS Istituto delle Scienze NeurologicheBolognaItaly NCT0236973111.8721145.21604COMPLETEDIstituto Giannina GasliniGenovaItaly NCT0236973115.5525638.19394COMPLETEDAOU Policlinico "G. Martino"MessinaItaly NCT0236973112.5983642.78235COMPLETEDFondazione IRCCS Ca' Granda Ospedale Maggiore PoliclinicoMilanItaly NCT0236973112.5983642.78235COMPLETEDIRCCS Istituto Neurologico Carlo BestaMilanItaly NCT0236973112.5983642.78235COMPLETEDASST Grande Ospedale Metropolitano NiguardaMilanItaly NCT0236973114.2681140.85216COMPLETEDII Policlinico Neurofisiopatologia (Edificio 11 G)NaplesItaly NCT0236973114.2681140.85216COMPLETEDCardiomiologia e Genetica Medica Primo PoliclinicoNaplesItaly NCT0236973111.1426144.38225COMPLETEDAO Padova Clinica NeurologicaPadovaItaly NCT0236973111.1064244.99364COMPLETEDFondazione Policlinico Universitario Agostino GemelliRomaItaly NCT0236973112.5113341.89193COMPLETEDBambino Gesù Children's HospitalRomeItaly NCT0236973111.9913844.88856COMPLETEDOspedale Molinette SCDU Neuropsichiatria Infantile AO Città della Salute e della Scienza di TorinoTorinoItaly NCT0236973124.1058956.946COMPLETEDBērnu klīniskā universitātes slimnīcaRigaLatvia NCT0236973110.3950663.43049COMPLETEDSt. Olavs hospital University children's clinical hospitalTrondheimNorway NCT02369731-8.4199640.20686COMPLETEDCentro Hospitalar e Universitário de coimbra EPE - Hospital Pediátrico de CoimbraCoimbraPortugal NCT02369731-9.149838.72509COMPLETEDCentro Hospitalar Lisboa Norte EPE - Hospital de Santa MariaLisbonPortugal NCT02369731-8.6109741.1485COMPLETEDCentro Hospitalar do Porto EPE - Hospital Geral de Santo AntónioPortoPortugal NCT0236973126.1062644.43225COMPLETEDSpitalul Clinic de Copii "Dr. Victor Gomoiu" Sectia Clinica Neurologie PediatricaBucharestRomania NCT0236973126.1062644.43225COMPLETEDRegina Maria Policlinica Opera CenterBucharestRomania NCT0236973114.5051346.05108COMPLETEDUniversity Children's Hospital University Medical Centre LjubljanaLjubljanaSlovenia NCT0236973111.9667957.70716COMPLETEDGöteborgs Universitet Avdelningen för pediatrik vid institutionen för kliniska vetenskaperGothenburgSweden NCT0236973118.0687159.32938COMPLETEDKarolinska InstitutetStockholmSweden NCT02369731-1.8998352.48142COMPLETEDBirmingham Heartlands HospitalBirminghamUnited Kingdom NCT02369731-2.5966551.45523COMPLETEDBristol Children's HospitalBristolUnited Kingdom NCT023697310.1166752.2COMPLETEDAddenbrooke's HospitalCambridgeUnited Kingdom NCT02369731-1.5478553.79648COMPLETEDChildren Hospital - Children's Neurosciences Leeds TEACHING HOSPITALS NHS TrustLeedsUnited Kingdom NCT02369731-2.9779453.41058COMPLETEDChildren's Hospital Alder Hey Children's Hospital NHS TrustLiverpoolUnited Kingdom NCT02369731-0.1257451.50853COMPLETEDSt Thomas' Hospital Children ServicesLondonUnited Kingdom NCT02369731-0.1257451.50853COMPLETEDUCL Great Ormond Street Institute of Child HealthLondonUnited Kingdom NCT02369731-2.2374353.48095COMPLETEDRoyal Manchester Children's HospitalManchesterUnited Kingdom NCT02369731-5.8897954.21804COMPLETEDThe John Walton Muscular Dystrophy Research CentreNewcastleUnited Kingdom NCT02369731-2.7045253.76282COMPLETEDNIHR Lancashire Clinical Research Facility Royal Preston HospitalPrestonUnited Kingdom NCT06363357126.978437.566RECRUITINGRECRUITINGSeoul National University HospitalSeoulJongno-guSouth KoreaName: Woo Hyung Lee, MD, Ph.D, Role: CONTACT, Phone: +82-2-2072-4178, Email: whlee909@snu.ac.kr NCT05524883-117.274232.84727ACTIVE_NOT_RECRUITINGUniversity of California San DiegoLa JollaCaliforniaUnited States NCT05524883-118.2436834.05223ACTIVE_NOT_RECRUITINGUCLA University California of Los AngelesLos AngelesCaliforniaUnited States NCT05524883-104.8319239.72943ACTIVE_NOT_RECRUITINGChildren's Hospital ColoradoAuroraColoradoUnited States NCT05524883-84.3879833.749ACTIVE_NOT_RECRUITINGRare Disease Research, LLCAtlantaGeorgiaUnited States NCT05524883-71.8022942.26259ACTIVE_NOT_RECRUITINGUMass Memorial Medical CenterWorcesterMassachusettsUnited States NCT05524883-82.9987939.96118ACTIVE_NOT_RECRUITINGNationwide Children's HospitalColumbusOhioUnited States NCT05524883-122.6762145.52345ACTIVE_NOT_RECRUITINGShriners Hospitals for Children PortlandPortlandOregonUnited States NCT05524883-75.1636239.95238ACTIVE_NOT_RECRUITINGChildren's Hospital of PhiladelphiaPhiladelphiaPennsylvaniaUnited States NCT05524883-79.9958940.44062ACTIVE_NOT_RECRUITINGUPMC Children's Hospital of PittsburghPittsburghPennsylvaniaUnited States NCT05524883-111.8910540.76078ACTIVE_NOT_RECRUITINGUniversity of Utah - PPDSSalt Lake CityUtahUnited States NCT05524883-77.4602637.55376ACTIVE_NOT_RECRUITINGVirginia Commonwealth UniversityRichmondVirginiaUnited States NCT05524883150.98768-33.80383ACTIVE_NOT_RECRUITINGChildren's Hospital at WestmeadWestmeadNew South WalesAustralia NCT05524883144.95-37.78333ACTIVE_NOT_RECRUITINGMurdoch Children's Research InstituteParkvilleVictoriaAustralia NCT055248833.7166751.05ACTIVE_NOT_RECRUITINGUZ GentGhentBelgium NCT055248834.7009350.87959ACTIVE_NOT_RECRUITINGUZ LeuvenLeuvenBelgium NCT055248835.5674950.63373ACTIVE_NOT_RECRUITINGCHR CitadelleLiègeBelgium NCT05524883-81.2330442.98339ACTIVE_NOT_RECRUITINGLondon Health Sciences CentreLondonOntarioCanada NCT05524883-75.6981245.41117ACTIVE_NOT_RECRUITINGChildren's Hospital of Eastern OntarioOttawaOntarioCanada NCT05524883-6.2488953.33306ACTIVE_NOT_RECRUITINGCHI [Children's Health Ireland] at Temple Street Children's University HospitalDublinIreland NCT0552488312.5113341.89193ACTIVE_NOT_RECRUITINGFondazione Policlinico Universitario A GemelliRomeLazioItaly NCT055248839.1895145.46427ACTIVE_NOT_RECRUITINGFondazione Serena Onlus - Centro Clinico NeMOMilanLombardyItaly NCT055248839.1895145.46427ACTIVE_NOT_RECRUITINGOspedale San Raffaele S.r.l. - PPDSMilanLombardyItaly NCT05524883126.978437.566ACTIVE_NOT_RECRUITINGSamsung Medical CenterSeoulTeugbyeolsiSouth Korea NCT055248832.1589941.38879ACTIVE_NOT_RECRUITINGHospital Universitario Vall d'Hebron - PPDSBarcelonaSpain NCT055248832.1589941.38879ACTIVE_NOT_RECRUITINGHospital Sant Joan de Déu Universidad de BarcelonaBarcelonaSpain NCT05524883-2.9779453.41058ACTIVE_NOT_RECRUITINGAlder Hey Children's HospitalLiverpoolMerseysideUnited Kingdom NCT05524883-1.6139654.97328ACTIVE_NOT_RECRUITINGRoyal Victoria InfirmaryNewcastle upon TyneNorthumberlandUnited Kingdom NCT05524883-1.5478553.79648ACTIVE_NOT_RECRUITINGLeeds Teaching Hospitals NHS TrustLeedsWest YorkshireUnited Kingdom NCT05524883-2.5966551.45523ACTIVE_NOT_RECRUITINGBristol Childrens HospitalBristolUnited Kingdom NCT05524883-0.1257451.50853ACTIVE_NOT_RECRUITINGGreat Ormond Street HospitalLondonUnited Kingdom NCT01539772-121.494438.58157UNKNOWNUniversity of California DavisSacramentoCaliforniaUnited States NCT01539772-77.0363738.89511UNKNOWNChildren's National Health SystemWashington D.C.District of ColumbiaUnited States NCT01539772-82.3248329.65163UNKNOWNUniversity of FloridaGainesvilleFloridaUnited States NCT01539772-84.3879833.749UNKNOWNChildren's Healthcare of AtlantaAtlantaGeorgiaUnited States NCT01539772-87.6500541.85003UNKNOWNAnn & Robert H. Lurie Children's Hospital of ChicagoChicagoIllinoisUnited States NCT01539772-93.2638444.97997UNKNOWNUniversity of MinnesotaMinneapolisMinnesotaUnited States NCT01539772-90.1978938.62727UNKNOWNWashington UniversitySt LouisMissouriUnited States NCT01539772-80.8431335.22709UNKNOWNCarolinas Medical CenterCharlotteNorth CarolinaUnited States NCT01539772-78.8986235.99403UNKNOWNDuke Children's Hospital and Health CenterDurhamNorth CarolinaUnited States NCT01539772-76.6502540.28592UNKNOWNPenn State Hershey Medical CenterHersheyPennsylvaniaUnited States NCT01539772-79.9958940.44062UNKNOWNUniversity of PittsburghPittsburghPennsylvaniaUnited States NCT01539772-90.0489835.14953UNKNOWNUniversity of TennesseeMemphisTennesseeUnited States NCT01539772-96.8066732.78306UNKNOWNUT Southwestern Medical CenterDallasTexasUnited States NCT01539772-114.0852951.05011UNKNOWNAlberta Children's HospitalCalgaryAlbertaCanada NCT015397729.1895145.46427UNKNOWNCentro Clinico NemoMilanItaly NCT01539772-1.6139654.97328UNKNOWNInstitute of Genetic Medicine - Newcastle UniversityNewcastle upon TyneUnited Kingdom NCT0568807231.2086130.00944COMPLETEDmarwa S salehGizaEgypt NCT0601383935.2163331.76904RECRUITINGUNKNOWNHadassah Medical CenterJerusalemIsraelName: Talia Dor, MD, Role: CONTACT, Phone: , Email: Name: Talia Dor, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT0601383934.8106532.08227RECRUITINGUNKNOWNSheba Medical CenterRamat GanIsraelName: Amir Dori, MD, PhD, Role: CONTACT, Phone: , Email: Name: Amir Dori, MD, PhD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT01000012-119.6981934.42083NO_LONGER_AVAILABLEMentor Worldwide LLCSanta BarbaraCaliforniaUnited States NCT02034305-79.9958940.44062COMPLETEDChildren's Hospital of PittsburghPittsburghPennsylvaniaUnited States NCT03936894-77.0363738.89511UNKNOWNChildren's National Medical CenterWashington D.C.District of ColumbiaUnited States NCT067131353.7166751.05ACTIVE_NOT_RECRUITINGUZ Gent (Universitair Ziekenhuis Gent)GhentBelgium NCT067131354.7009350.87959ACTIVE_NOT_RECRUITINGUZ Leuven (Universitair Ziekenhuis Leuven)LeuvenBelgium NCT0671313516.6079649.19522ACTIVE_NOT_RECRUITINGUniversity Hospital BrnoBrnoCzechia NCT0671313514.4207650.08804ACTIVE_NOT_RECRUITINGFakultni Nemocnice MotolPragueCzechia NCT0671313523.7278437.98376ACTIVE_NOT_RECRUITINGChildren's Hospital Agia SofiaAthensGreece NCT06713135-6.2488953.33306ACTIVE_NOT_RECRUITINGChildren's Health Ireland at Tallaght, Tallaght University HospitalDublinIreland NCT0671313534.8874732.08707ACTIVE_NOT_RECRUITINGSchneider Children's Medical CenterPetah TikvaIsrael NCT067131354.4930652.15833ACTIVE_NOT_RECRUITINGLeiden University Medical CenterLeidenNetherlands NCT067131355.8527851.8425ACTIVE_NOT_RECRUITINGRadboud University NijmegenNijmegenNetherlands NCT06713135174.77557-41.28664ACTIVE_NOT_RECRUITINGTe Wao Nui - Child Health Service, Wellington HospitalWellingtonNew Zealand NCT06713135-3.7025640.4165ACTIVE_NOT_RECRUITINGHospital Universitario Puerta de Hierro MajadahondaMadridSpain NCT06713135-0.3796639.47391ACTIVE_NOT_RECRUITINGHospital Universitario y Politecnico de La FeValenciaSpain NCT06713135-4.2576355.86515ACTIVE_NOT_RECRUITINGQueen Elizabeth University HospitalGlasgowLanarkshireUnited Kingdom NCT06713135-2.9779453.41058ACTIVE_NOT_RECRUITINGAlder Hey Children's HospitalLiverpoolMerseysideUnited Kingdom NCT06713135-1.5478553.79648ACTIVE_NOT_RECRUITINGLeeds Teaching Hospitals NHS TrustLeedsWest YorkshireUnited Kingdom NCT06713135-1.8998352.48142ACTIVE_NOT_RECRUITINGUniversity Hospitals Birmingham NHS Foundation TrustBirminghamUnited Kingdom NCT06713135-0.1257451.50853ACTIVE_NOT_RECRUITINGGreat Ormond Street Hospital for Children NHS Foundation TrustLondonUnited Kingdom NCT06713135-5.8897954.21804ACTIVE_NOT_RECRUITINGThe John Walton Muscular Dystrophy Research CentreNewcastleUnited Kingdom NCT01239758-114.0852951.05011TERMINATEDAcceleron Investigative SiteCalgaryAlbertaCanada NCT01239758-79.8496343.25011TERMINATEDAcceleron Investigative SiteHamiltonOntarioCanada NCT01239758-81.2330442.98339TERMINATEDAcceleron Investigative SiteLondonOntarioCanada NCT01239758-75.6981245.41117TERMINATEDAcceleron Investigative SiteOttawaOntarioCanada NCT06925269-74.84640.24566RECRUITINGRECRUITINGRed NucleusYardleyPennsylvaniaUnited StatesName: Mary Hubbard, Role: CONTACT, Phone: 904-541-9326, Email: mhubbard@rednucleus.com Name: Mindy Leffler, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT00102453-77.0363738.89511COMPLETEDChildren's National Medical CenterWashington D.C.District of ColumbiaUnited States NCT00102453-92.469944.02163COMPLETEDMayo ClinicRochesterMinnesotaUnited States NCT00102453-90.1978938.62727COMPLETEDWashington University at St. LouisSt LouisMissouriUnited States NCT00102453-79.9958940.44062COMPLETEDChildren's Hospital of PittsburghPittsburghPennsylvaniaUnited States NCT00102453-96.8066732.78306COMPLETEDTexas Scottish Rite HospitalDallasTexasUnited States NCT020187317.5732747.55839COMPLETEDUniversity Children's HospitalBaselCanton of Basel-CitySwitzerland NCT007201614.7009350.87959COMPLETEDUZLeuvenLeuvenBrabantBelgium NCT01931644-118.2436834.05223COMPLETEDSanguine BiosciencesLos AngelesCaliforniaUnited States NCT01388764-71.0597742.35843COMPLETEDMassachusetts General HospitalBostonMassachusettsUnited States NCT04821063-71.2145446.81228COMPLETEDQuébecQuébecCanada NCT035133671.4436743.60426RECRUITINGUNKNOWNUniversity Hospital ToulouseToulouseFranceName: Claude Cances, MD, Role: CONTACT, Phone: 05 34 55 87 28, Email: Cances.c@chu-toulouse.fr Name: Isabelle Olivier, PhD, Role: CONTACT, Phone: 05 61 77 70 51, Email: olivier.i@chu-toulouse.fr Name: Elisabeth Wallach, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT04004065-121.494438.58157TERMINATEDUniversity of California Davis HealthSacramentoCaliforniaUnited States NCT04004065-72.8320441.71982TERMINATEDConnecticut Children'sFarmingtonConnecticutUnited States NCT04004065-87.1638630.35714TERMINATEDNorthwest Florida Clinical Research Group, LLCGulf BreezeFloridaUnited States NCT04004065-84.3879833.749TERMINATEDRare Disease Research, LLCAtlantaGeorgiaUnited States NCT04004065-91.5301741.66113TERMINATEDUniversity of Iowa Hospitals and ClinicsIowa CityIowaUnited States NCT04004065-94.6274639.11417TERMINATEDUniversity of Kansas Medical Center Research Inst.Kansas CityKansasUnited States NCT04004065-71.8022942.26259TERMINATEDUniversity of MassachusettsWorcesterMassachusettsUnited States NCT04004065-79.9958940.44062TERMINATEDUPMC Children's Hospital of PittsburghPittsburghPennsylvaniaUnited States NCT04004065-97.7430630.26715TERMINATEDAustin Neuromuscular CenterAustinTexasUnited States NCT04004065-96.8066732.78306TERMINATEDChildren's Health Ambulatory PavilionDallasTexasUnited States NCT04004065-122.3320747.60621TERMINATEDSeattle Children'sSeattleWashingtonUnited States NCT040040653.7166751.05TERMINATEDUniversitair Ziekenhuis GentGhentBelgium NCT040040654.7009350.87959TERMINATEDUZ LeuvenLeuvenBelgium NCT04004065-81.2330442.98339TERMINATEDChildren's Hospital - London Health Sciences Centre (LHSC)LondonOntarioCanada NCT040040657.0122851.45657TERMINATEDUniversity of Essen - Children's HospitalEssenGermany NCT0400406511.5754948.13743TERMINATEDKlinikum der Universität MünchenMunichGermany NCT0400406512.5113341.89193TERMINATEDFondazione Policlinico Universitario A GemelliRomeItaly NCT0400406511.9913844.88856TERMINATEDA.O.U. Citta della Salute e della Scienza di Torino - SS Malattie Neuromuscolari, Department of NeurosciencesTorinoItaly NCT040040654.4930652.15833TERMINATEDLeiden University Medical CenterLeidenNetherlands NCT040040652.1589941.38879TERMINATEDHospital Sant Joan de Déu. U.B.BarcelonaSpain NCT04004065-0.3796639.47391TERMINATEDHospital Universitari I Politecnic La Fe de ValenciaValenciaSpain NCT04004065-2.9779453.41058TERMINATEDAlder Hey Children's NHS Foundation TrustLiverpoolLancashireUnited Kingdom NCT04004065-4.2576355.86515TERMINATEDRoyal Hospital for Children (Glasgow)GlasgowUnited Kingdom NCT04004065-0.1257451.50853TERMINATEDGreat Ormond Street Hospital for Children NHS Foundation TrustLondonUnited Kingdom NCT04004065-1.2559651.75222TERMINATEDOxford University Hospial NHS Foundation Trust, John Radcliffe HospitalOxfordUnited Kingdom NCT05635266-71.2356142.37649RECRUITINGRECRUITINGSanguine BiosciencesWalthamMassachusettsUnited States NCT07127978-92.2895934.74648RECRUITINGRECRUITINGArkansas Children's Research InstituteLittle RockArkansasUnited StatesName: Domencia Hunter, Role: CONTACT, Phone: 973-932-9211, Email: hunterdj@archildrens.org Name: Aravindhan Veerapandiyan, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT07127978-77.0363738.89511RECRUITINGRECRUITINGChildren's National HospitalWashington D.C.District of ColumbiaUnited StatesName: Margaret Martinez, Role: CONTACT, Phone: 202-476-2431, Email: mbmartin@childrensnational.org Name: Sarah Wright, DO, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT07127978-87.6500541.85003RECRUITINGRECRUITINGAnn and Robert H. Lurie Children's Hospital of ChicagoChicagoIllinoisUnited StatesName: Raven Hill, Role: CONTACT, Phone: 312-227-2937, Email: rhill@luriechildrens.org Name: Bridget McGowan, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT07127978-71.0597742.35843RECRUITINGRECRUITINGBoston Children's HospitalBostonMassachusettsUnited StatesName: Gerald Mastellone, Role: CONTACT, Phone: 857-218-4677, Email: Gerald.mastellone@childrens.harvard.edu Name: Partha Ghosh, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT07127978-71.8022942.26259RECRUITINGRECRUITINGUniversity of Massachusetts Chan Medical SchoolWorcesterMassachusettsUnited StatesName: Sarah Figueira, Role: CONTACT, Phone: (508) 856-1604, Email: sarah.figueira@umassmed.edu Name: , Role: CONTACT, Phone: , Email: dmdprogram@umassmemorial.org Name: Stephen Chrzanowski, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT07127978-74.0059740.71427RECRUITINGRECRUITINGColumbia University Medical CenterNew YorkNew YorkUnited StatesName: Kimberly Berry, Role: CONTACT, Phone: 212-342-3038, Email: kb2996@cumc.columbia.edu Name: Divya Jayaraman, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT07127978-122.3320747.60621RECRUITINGRECRUITINGSeattle Children's HospitalSeattleWashingtonUnited StatesName: Macarena Racciatti, Role: CONTACT, Phone: 206-995-6847, Email: macarena.racciatti@seattlechildrens.org Name: Alicia Henriquez, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT02972580-82.9987939.96118ACTIVE_NOT_RECRUITINGNationwide Children's HosptialColumbusOhioUnited States NCT03039686-112.0740433.44838COMPLETEDNeuromuscular Research CenterPhoenixArizonaUnited States NCT03039686-122.1430237.44188COMPLETEDStanford UniversityPalo AltoCaliforniaUnited States NCT03039686-121.494438.58157COMPLETEDUniversity of California Davis Medical CenterSacramentoCaliforniaUnited States NCT03039686-72.9281641.30815COMPLETEDYale University School of Medicine ; Pulmonary & Critical CareNew HavenConnecticutUnited States NCT03039686-82.3248329.65163COMPLETEDUniversity of FloridaGainesvilleFloridaUnited States NCT03039686-81.3792428.53834COMPLETEDNemours Children's HospitalOrlandoFloridaUnited States NCT03039686-84.3879833.749COMPLETEDRare Disease Research, LLCAtlantaGeorgiaUnited States NCT03039686-87.6500541.85003COMPLETEDRush University Medical Center - PPDSChicagoIllinoisUnited States NCT03039686-91.5301741.66113COMPLETEDUniversity of IowaIowa CityIowaUnited States NCT03039686-94.6274639.11417COMPLETEDUniversity of Kansas Medical CenterKansas CityKansasUnited States NCT03039686-76.6121939.29038COMPLETEDKennedy Krieger InstituteBaltimoreMarylandUnited States NCT03039686-71.8022942.26259COMPLETEDUniversity of Massachusetts Memorial Childrens Medical Center; Department of NeurologyWorcesterMassachusettsUnited States NCT03039686-90.1978938.62727COMPLETEDSaint Louis Children's HospitalSt LouisMissouriUnited States NCT03039686-115.1372236.17497COMPLETEDLas Vegas ClinicLas VegasNevadaUnited States NCT03039686-84.5143939.12711COMPLETEDCincinnati Childrens Hospital Medical Center;Investigational PharmacyCincinnatiOhioUnited States NCT03039686-82.9987939.96118COMPLETEDNationwide Childrens Hospital; Research Institute at Nationwide Childrens HospitalColumbusOhioUnited States NCT03039686-122.3320747.60621COMPLETEDSeattle Children's HospitalSeattleWashingtonUnited States NCT03039686-58.37723-34.61315COMPLETEDInstituto centenarioBuenos AiresArgentina NCT03039686150.98768-33.80383COMPLETEDChildren's Hospital Westmead; Paediatrics & Child HealthWestmeadNew South WalesAustralia NCT03039686153.02049-27.48034COMPLETEDLady Cilento Children's Hospital; Neurosciences DepartmentSouth BrisbaneQueenslandAustralia NCT03039686144.95-37.78333COMPLETEDRoyal Children's HospitalParkvilleVictoriaAustralia NCT030396863.7166751.05COMPLETEDUZ GentGhentBelgium NCT03039686-81.2330442.98339COMPLETEDLondon Health Sciences Centre; Children's Hospital; PediatricsLondonOntarioCanada NCT03039686-75.6981245.41117COMPLETEDChildren'S Hospital of Eastern OntarioOttawaOntarioCanada NCT030396864.8478945.74906COMPLETEDHospices Civils de LyonLyonFrance NCT03039686-1.5533647.21725COMPLETEDHotel Dieu; Service Pharmacie Essais CliniquesNantesFrance NCT030396862.348848.85341COMPLETEDHopital Armand Trousseau; centre reference Maladies Neuro-musculaires Est parisien NeuropediatrieParisFrance NCT030396867.7455348.58392COMPLETEDHopitaux Universitaires de StrasbourgStrasbourgFrance NCT030396867.0122851.45657COMPLETEDUniversitatsklinikum Essen; Innere KlinikEssenGermany NCT0303968612.5113341.89193COMPLETEDFondazione Policlinico Universitario A Gemelli; Servizio di FarmaciaRomeLazioItaly NCT0303968615.5525638.19394COMPLETEDAz. Osp. Universitaria Pol. G. Martino; Dip. Neuroscienze, Scienze Psichiatriche e Anest.MessinaSicilyItaly NCT03039686144.4333343.36667COMPLETEDHyogo College of Medicine HospitalHyōgoJapan NCT03039686128.1823626.62566COMPLETEDMiyagi Children's HospitalMiyagiJapan NCT03039686138.1833336.65COMPLETEDShinshu University HospitalNaganoJapan NCT03039686135.5010734.69379COMPLETEDNational Hospital Organization Osaka Toneyama Medical CenterOsakaJapan NCT03039686139.6917135.6895COMPLETEDNational Center of Neurology and PsychiatryTokyoJapan NCT030396864.4930652.15833COMPLETEDLeids Universitair Medisch CentrumLeidenNetherlands NCT030396865.8527851.8425COMPLETEDRadboud University Nijmegen Medical Centre; OphthalmologyNijmegenNetherlands NCT03039686-0.3796639.47391COMPLETEDHospital Universitari i Politecnic La Fe de Valencia; Servicio de FarmaciaValenciaSpain NCT0303968611.9667957.70716COMPLETEDDrottning Silvias Barn- och ungdomssjukhus; Kliniken for barnmedicinGothenburgSweden NCT03039686-2.9779453.41058COMPLETEDAlder Hey Children s Hospital; Department of PediatricsLiverpoolUnited Kingdom NCT03039686-0.1257451.50853COMPLETEDUCL Institute of Child Health & Great Ormond Street Hospital for ChildrenLondonUnited Kingdom NCT06817382-92.2895934.74648RECRUITINGRECRUITINGUSA012Little RockArkansasUnited StatesName: Kendra Stroud, Role: CONTACT, Phone: , Email: stroudk1@archildrens.org NCT06817382-121.7405238.54491RECRUITINGRECRUITINGUSA010DavisCaliforniaUnited StatesName: Amanda Marie Figueroa Lopez, Role: CONTACT, Phone: , Email: aflopez@health.ucdavis.edu NCT06817382-118.2436834.05223RECRUITINGRECRUITINGUSA009Los AngelesCaliforniaUnited StatesName: Ummi Qasim, Role: CONTACT, Phone: 310-825-3284, Email: uqasim@mednet.ucla.edu NCT06817382-122.1430237.44188RECRUITINGRECRUITINGUSA002Palo AltoCaliforniaUnited StatesName: Rabia Farooquee, Role: CONTACT, Phone: , Email: rfarooquee@stanford.edu NCT06817382-117.1647232.71571RECRUITINGRECRUITINGUSA005San DiegoCaliforniaUnited StatesName: Elizabeth (Ellie) Moreno, Role: CONTACT, Phone: , Email: e4moreno@health.ucsd.edu NCT06817382-84.3879833.749RECRUITINGRECRUITINGRare Disease Research (USA004)AtlantaGeorgiaUnited StatesName: Laura Sutton, Role: CONTACT, Phone: , Email: laura.sutton@rarediseaseresearch.com NCT06817382-77.6155643.15478RECRUITINGRECRUITINGUSA008RochesterNew YorkUnited StatesName: , Role: CONTACT, Phone: , Email: Patty_Smith@URMC.Rochester.edu NCT06817382-82.9987939.96118RECRUITINGRECRUITINGUSA006ColumbusOhioUnited StatesName: Abigail Hanson, Role: CONTACT, Phone: , Email: Abigail.hanson2@nationwidechildrens.org NCT06817382-90.0489835.14953RECRUITINGRECRUITINGUSA001MemphisTennesseeUnited StatesName: Colin Quillivan, Role: CONTACT, Phone: , Email: colin.quillivan@stjude.org NCT06817382-76.2852236.84681RECRUITINGRECRUITINGUSA015NorfolkVirginiaUnited StatesName: Erika Paradiso, Role: CONTACT, Phone: , Email: erika.paradiso@chkd.org NCT05881408-92.2895934.74648ACTIVE_NOT_RECRUITINGArkansas Children's HospitalLittle RockArkansasUnited States NCT05881408-122.1430237.44188ACTIVE_NOT_RECRUITINGLucile Packard Children's Hospital StanfordPalo AltoCaliforniaUnited States NCT05881408-121.494438.58157ACTIVE_NOT_RECRUITINGUniversity of California at Davis Medical CenterSacramentoCaliforniaUnited States NCT05881408-117.1647232.71571ACTIVE_NOT_RECRUITINGRady Children's Hospital-San DiegoSan DiegoCaliforniaUnited States NCT05881408-82.3248329.65163ACTIVE_NOT_RECRUITINGUniversity of Florida, UF Health Center for Pediatric Neuromuscular and Rare DiseasesGainesvilleFloridaUnited States NCT05881408-87.6500541.85003ACTIVE_NOT_RECRUITINGAnn & Robert H. Lurie Children's Hospital of ChicagoChicagoIllinoisUnited States NCT05881408-76.6121939.29038ACTIVE_NOT_RECRUITINGThe Johns Hopkins Hospital, Charlotte R. Bloomberg Children's Center, Pediatric Clinical Research UnitBaltimoreMarylandUnited States NCT05881408-71.0597742.35843ACTIVE_NOT_RECRUITINGBoston Children's HospitalBostonMassachusettsUnited States NCT05881408-90.1978938.62727ACTIVE_NOT_RECRUITINGWashington University of St. Louis, St. Louis Children's HospitalSt LouisMissouriUnited States NCT05881408-77.6155643.15478ACTIVE_NOT_RECRUITINGUniversity of Rochester, Department of NeurologyRochesterNew YorkUnited States NCT05881408-78.8986235.99403ACTIVE_NOT_RECRUITINGLenox Baker Children's Hospital (Duke University)DurhamNorth CarolinaUnited States NCT05881408-82.9987939.96118ACTIVE_NOT_RECRUITINGNationwide Children's HospitalColumbusOhioUnited States NCT05881408-75.1636239.95238ACTIVE_NOT_RECRUITINGChildren's Hospital of PhiladelphiaPhiladelphiaPennsylvaniaUnited States NCT05881408-76.2852236.84681ACTIVE_NOT_RECRUITINGChildren's Hospital of the King's DaughtersNorfolkVirginiaUnited States NCT05881408150.98768-33.80383ACTIVE_NOT_RECRUITINGThe Children's Hospital at WestmeadWestmeadNew South WalesAustralia NCT05881408144.95-37.78333ACTIVE_NOT_RECRUITINGThe Royal Children's HospitalParkvilleVictoriaAustralia NCT058814083.7166751.05ACTIVE_NOT_RECRUITINGUniversitair Ziekenhuis GentGhentOost-VlaanderenBelgium NCT05881408-75.6981245.41117ACTIVE_NOT_RECRUITINGThe Children's Hospital of Eastern OntarioOttawaOntarioCanada NCT05881408-73.5878145.50884ACTIVE_NOT_RECRUITINGResearch Institute McGill University Health CentreMontrealQuebecCanada NCT05881408-71.2145446.81228ACTIVE_NOT_RECRUITINGCentre Hospitalier Universitaire de Québec - Université Laval (pavillon Centre Hospitalier Universitaire Laval)QuébecCanada NCT0588140813.4631448.69668ACTIVE_NOT_RECRUITINGLMU- Klinikum der Universitat Munchen, Kinderklinik und Kinderpoliklinik im Dr. von Haunerschen Kinderspital, Abeteilung Neuropadiatrie, Campus InnenstadtMünchenBavariaGermany NCT058814087.0122851.45657ACTIVE_NOT_RECRUITINGUniversitatsklinikum Essen, Klinik fur Kinderheilkunde I, Abteilung Neuropadiatrie EssenEssenNorth Rhine-WestphaliaGermany NCT058814089.9930253.55073ACTIVE_NOT_RECRUITINGUniversitatsklinikum Hamburg EppendorfHamburgGermany NCT05881408114.1746922.27832ACTIVE_NOT_RECRUITINGHong Kong Children's HospitalHong KongHong Kong NCT0588140834.8874732.08707ACTIVE_NOT_RECRUITINGInstitute of Neruology, Schneider Children's Medical Center of IsraelPetah TikvaIsrael NCT0588140834.7805732.08088ACTIVE_NOT_RECRUITINGTel Aviv Sourasky Medical CenterTel AvivIsrael NCT0588140811.8721145.21604ACTIVE_NOT_RECRUITINGU.O.S.D Centro Traslazionale di Miologia e Patologie Neurodegenerative, Istituto G. Gaslini, Istituto Pediatrico di Ricovero e Cura a Carattere ScientificoGenovaItaly NCT0588140812.5983642.78235ACTIVE_NOT_RECRUITINGUOC Neurologia, Fondazione IRCCS Ca' Granda Ospedale Maggiore PoliclinicoMilanItaly NCT0588140812.5983642.78235ACTIVE_NOT_RECRUITINGIRCCS Istituto Neurologico Carlo Besta Neurepsichiatria Infantile 2 - Epilettologia e Neurologia dello SviluppoMilanItaly NCT0588140811.1064244.99364ACTIVE_NOT_RECRUITINGUOC Neuropsichiatria Infantile, Area Salute del Bambino, Fondazione Policlinico Universitario A. Gemelli IRCCSRomaItaly NCT05881408139.4850835.72603ACTIVE_NOT_RECRUITINGNational Center of Neurology and PsychiatryKodairaTokyoJapan NCT05881408129.0335835.34199ACTIVE_NOT_RECRUITINGPusan National University Yangsan HospitalYangsanGyeongsangnam-doSouth Korea NCT05881408126.978437.566ACTIVE_NOT_RECRUITINGSeoul National University HospitalSeoulNAPSouth Korea NCT05881408128.5911135.87028ACTIVE_NOT_RECRUITINGKyungpook National University HospitalDaeguSouth Korea NCT05881408126.978437.566ACTIVE_NOT_RECRUITINGGangnam Severance Hospital, Yonsei University Health SystemSeoulSouth Korea NCT058814082.0880941.37732ACTIVE_NOT_RECRUITINGHospital Sant Joan de DeuEsplugues de LlobregatBarcelonaSpain NCT05881408-0.3796639.47391ACTIVE_NOT_RECRUITINGHospital Universitari Politecnic La FeValenciaSpain NCT0588140811.9667957.70716ACTIVE_NOT_RECRUITINGSahlgrenska UniversitetssjukhusetGothenburgSweden NCT0588140818.0008659.36004ACTIVE_NOT_RECRUITINGKarolinska Universitetssjukhuset/Astrid Lindgrens Barnsjukhus, BarnneurologenSolnaSweden NCT05881408120.3133322.61626ACTIVE_NOT_RECRUITINGKaohsiung Medical University Chung-Ho Memorial HospitalKaohsiung CityTaiwan NCT05881408121.5263925.05306ACTIVE_NOT_RECRUITINGNational Taiwan University HospitalTaipeiTaiwan NCT05881408-0.1257451.50853ACTIVE_NOT_RECRUITINGGreat Ormond Street Hospital for Children Foundation TrustLondonGreater LondonUnited Kingdom NCT05881408-1.2559651.75222ACTIVE_NOT_RECRUITINGOxford University Hospitals NHS Foundation TrustOxfordOxfordshireUnited Kingdom NCT05881408-1.6139654.97328ACTIVE_NOT_RECRUITINGInstitute of Translational and Clinical ResearchNewcastle upon TyneUnited Kingdom NCT06093100-86.7844436.16589RECRUITINGRECRUITINGVanderbilt University Medical CenterNashvilleTennesseeUnited StatesName: Jaclyn Tamaroff, MD, Role: CONTACT, Phone: 615-875-7853, Email: Jaclyn.tamaroff@vumc.org Name: Andrea Lee, Role: CONTACT, Phone: 615-875-9602, Email: Andrea.e.lee@vumc.org NCT03375164-82.9987939.96118COMPLETEDNationwide Children's HospitalColumbusOhioUnited States NCT01982695-121.7405238.54491COMPLETEDUniversity of California DavisDavisCaliforniaUnited States NCT01982695-94.6274639.11417COMPLETEDUniversity of Kansas Medical CenterKansas CityKansasUnited States NCT01982695-71.0597742.35843COMPLETEDBoston Children's HospitalBostonMassachusettsUnited States NCT01982695-93.0932744.94441COMPLETEDUniversity of MinnesotaSaint PaulMinnesotaUnited States NCT01982695-82.9987939.96118COMPLETEDNationwide Children's HospitalColumbusOhioUnited States NCT06280209-81.2330442.98339RECRUITINGRECRUITINGChildren's Hospital LHSCLondonOntarioCanadaName: Carolyn Twible, Role: CONTACT, Phone: 519-685-8500, Email: carolyn.twible@lhsc.on.ca Name: Craig Campbell, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT062802099.1895145.46427RECRUITINGRECRUITINGFondazione Serena ETS - Centro Clinico NeMO MilanoMilanItalyName: Marta Sorce, Role: CONTACT, Phone: +39 3284358826, Email: marta.sorce@centrocliniconemo.it Name: Valeria Sansone, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT0628020912.5113341.89193RECRUITINGRECRUITINGUOC Fase I - Fondazione Policlinico Universitario A. Gemelli IRCCS - Universita Cattolica del Sacro CuoreRomeItalyName: Celeste Pirozzoli, Role: CONTACT, Phone: +39 (0) 630 156 742, Email: mariaceleste.pirozzoli@policlinicogemelli.it Name: Marika Pane, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT062802094.4930652.15833RECRUITINGRECRUITINGLeids Universitair Medisch CentrumLeidenNetherlandsName: Marjolein Van Heur, Role: CONTACT, Phone: +31 71 526 5474, Email: m.j.van_heur-neuman@lumc.nl Name: Erik Niks, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT062802092.1589941.38879RECRUITINGRECRUITINGHospital Sant Joan de DeuBarcelonaSpainName: Soraya Peralta, Role: CONTACT, Phone: +34 673200068, Email: soraya.peralta@sjd.es Name: Andres Nascimento, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT06280209-5.9731737.38283RECRUITINGRECRUITINGHospital Viamed Santa Angela De la CruzSevilleSpainName: Carmen Silva, Role: CONTACT, Phone: +34 669393637, Email: tuautorapreferida@gmail.com Name: Marcos Madruga-Garrido, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT0628020928.9496641.01384RECRUITINGRECRUITINGYeditepe University Kosuyolu HospitalIstanbulTurkey (Türkiye)Name: Haluk Topaloglu, Role: CONTACT, Phone: 00905322341226, Email: Haluk.topaloglu@yeditepe.edu.tr Name: Haluk Topaloglu, MD, Prof, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT06280209-0.1257451.50853RECRUITINGRECRUITINGGreat Ormond Street Hospital NHS Foundation TrustLondonUnited KingdomName: Marta Zancolli, Role: CONTACT, Phone: +44 (0)20 7905 2188, Email: marta.zancolli@gosh.nhs.uk Name: Giovanni Baranello, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT02383511-1.8998352.48142COMPLETEDHeart of England NHS Foundation Trust - Heart Lands HospitalBirminghamUnited Kingdom NCT02383511-2.9779453.41058COMPLETEDAlder Hey Children's NHS Foundation TrustLiverpoolUnited Kingdom NCT02383511-0.1257451.50853COMPLETEDGreat Ormond Street Hospital for Children NHS Foundation TrustLondonUnited Kingdom NCT02383511-2.2374353.48095COMPLETEDCentral Manchester University Hospitals NHS Foundation Trust- Royal Manchester Children's HospitalManchesterUnited Kingdom NCT01523964-104.8319239.72943COMPLETEDChildren's Hospital ColoradoAuroraColoradoUnited States NCT01523964-71.0597742.35843COMPLETEDMassauchusetts General HospitalBostonMassachusettsUnited States NCT01523964-90.1978938.62727COMPLETEDWashington UniversitySt LouisMissouriUnited States NCT01523964-84.5143939.12711COMPLETEDCincinnati Children's HospitalCincinnatiOhioUnited States NCT01523964-96.8066732.78306COMPLETEDThe University of Texas Southwestern Medical Center-DallasDallasTexasUnited States NCT01523964-122.3320747.60621COMPLETEDSeattle Children's HospitalSeattleWashingtonUnited States NCT033540392.1823248.84226COMPLETEDHôpitaux Raymond PoincaréGarchesFrance NCT033540397.7455348.58392COMPLETEDHôpital de HautepierreStrasbourgFrance NCT0335403913.4105352.52437COMPLETEDDRK Klinik Berlin WestendBerlinGermany NCT033540397.0122851.45657COMPLETEDUniversitätsklinikum EssenEssenGermany NCT033540395.8527851.8425COMPLETEDRadboud umcNijmegenNetherlands NCT033540392.0880941.37732COMPLETEDHospital Sant Joan de Déu. UBEsplugues de LlobregatBarcelonaSpain NCT03354039-5.9731737.38283COMPLETEDHospital Universitario Virgen del RocíoSevilleSpain NCT033540397.5732747.55839COMPLETEDUniversity Children's Hospital BaselBaselSwitzerland NCT03354039-4.2576355.86515COMPLETEDRoyal Hospital for ChildrenGlasgowUnited Kingdom NCT03354039-1.5478553.79648COMPLETEDThe Leeds Teaching Hospitals NHS TrustLeedsUnited Kingdom NCT03354039-2.9779453.41058COMPLETEDAlder Hey Children's HospitalLiverpoolUnited Kingdom NCT04012671119.3061126.06139RECRUITINGRECRUITINGFirst Affiliated Hospital of Fujian Medical UniversityFuzhouChinaName: Ming Jin, MD, Role: CONTACT, Phone: , Email: Safariday@live.com Name: Ning Wang, MD,PhD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: Name: Wan-Jin Chen, MD,PhD, Role: SUB_INVESTIGATOR, Phone: , Email: NCT074158373.0868245.77969RECRUITINGRECRUITINGCHU de Clermont-FerrandClermont-FerrandFranceName: Lise Laclautre, Role: CONTACT, Phone: , Email: promo_interne_drci@chu-clermontferrand.fr Name: Catherine Sarret, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT00468832-121.494438.58157UNKNOWNUniversity of California, DavisSacramentoCaliforniaUnited States NCT00468832-77.0363738.89511UNKNOWNChildren's National Medical CenterWashington D.C.District of ColumbiaUnited States NCT00468832-82.3248329.65163UNKNOWNUniversity of of FloridaGainesvilleFloridaUnited States NCT00468832-87.6500541.85003UNKNOWNLurie Children's HospialChicagoIllinoisUnited States NCT00468832-93.2638444.97997UNKNOWNUniversity of MinnesotaMinneapolisMinnesotaUnited States NCT00468832-90.1978938.62727UNKNOWNWashington University, St. LouisSt LouisMissouriUnited States NCT00468832-80.8431335.22709UNKNOWNCarolinas Medical CenterCharlotteNorth CarolinaUnited States NCT00468832-78.8986235.99403UNKNOWNDuke Children's HospitalDurhamNorth CarolinaUnited States NCT00468832-79.9958940.44062UNKNOWNChildren's Hospital of Pittsburgh of UPMCPittsburghPennsylvaniaUnited States NCT00468832-90.0489835.14953UNKNOWNUniversity of TennesseeMemphisTennesseeUnited States NCT00468832-77.4602637.55376UNKNOWNChildren's Hospital of VirginiaRichmondVirginiaUnited States NCT00468832-58.37723-34.61315UNKNOWNFundacion FavaloroBuenos AiresArgentina NCT00468832151.20732-33.86785UNKNOWNThe Children's Hospital at WestmeadSydneyNew South WalesAustralia NCT00468832144.96332-37.814UNKNOWNRoyal Children's HospitalMelbourneVictoriaAustralia NCT00468832-114.0852951.05011UNKNOWNAlberta Children's HospitalCalgaryAlbertaCanada NCT00468832-113.4687153.55014UNKNOWNUniversity of AlbertaEdmontonAlbertaCanada NCT00468832-79.3986443.70643UNKNOWNHolland Bloorview Kids Rehab HospitalTorontoOntarioCanada NCT0046883280.2784713.08784UNKNOWNApollo HospitalsChennaiIndia NCT004688329.1895145.46427UNKNOWNNEMOMilanItaly NCT0046883211.9667957.70716UNKNOWNQueen Silvia Children's HospitalGothenburgSweden NCT04193085-74.0059740.71427COMPLETEDColumbia University Medical CenterNew YorkNew YorkUnited States NCT0428758232.8542739.91987RECRUITINGUNKNOWNHacettepe UniversityAnkaraTurkey (Türkiye)Name: Merve Bora, PT, Role: CONTACT, Phone: 05058625335, Email: mervebora95@gmail.com NCT0248456037.382537.05944UNKNOWNGaziantep University HospitalGaziantepTurkey (Türkiye) NCT02808585-85.8316333.65983COMPLETEDPinnacle Research Group, LLCAnnistonAlabamaUnited States NCT02808585-112.2373833.5806COMPLETEDPhoenix Medical ResearchPeoriaArizonaUnited States NCT02808585-81.0228329.21081COMPLETEDCardiology Associates Research CompanyDaytona BeachFloridaUnited States NCT02808585-80.1936625.77427COMPLETEDRevivial ResearchMiamiFloridaUnited States NCT02808585-96.6152733.19762COMPLETEDNorth Dallas Research AssociatesMcKinneyTexasUnited States NCT03333590-82.9987939.96118COMPLETEDNationwide Children's HospitalColumbusOhioUnited States NCT05540860-92.2895934.74648ACTIVE_NOT_RECRUITINGArkansas Children's HospitalLittle RockArkansasUnited States NCT05540860-118.2436834.05223ACTIVE_NOT_RECRUITINGUCLA Medical CenterLos AngelesCaliforniaUnited States NCT05540860-121.494438.58157ACTIVE_NOT_RECRUITINGUC Davis Medical CenterSacramentoCaliforniaUnited States NCT05540860-104.8319239.72943ACTIVE_NOT_RECRUITINGChildren's Hospital ColoradoAuroraColoradoUnited States NCT05540860-82.3248329.65163ACTIVE_NOT_RECRUITINGUniversity of FloridaGainesvilleFloridaUnited States NCT05540860-84.3879833.749ACTIVE_NOT_RECRUITINGRare Disease ResearchAtlantaGeorgiaUnited States NCT05540860-91.5301741.66113ACTIVE_NOT_RECRUITINGUniversity of IowaIowa CityIowaUnited States NCT05540860-94.6274639.11417ACTIVE_NOT_RECRUITINGUniversity of Kansas Medical CenterKansas CityKansasUnited States NCT05540860-76.6121939.29038ACTIVE_NOT_RECRUITINGKennedy Krieger InstituteBaltimoreMarylandUnited States NCT05540860-71.8022942.26259ACTIVE_NOT_RECRUITINGUniversity of Massachusetts Memorial Medical CenterWorcesterMassachusettsUnited States NCT05540860-90.1978938.62727ACTIVE_NOT_RECRUITINGWashington University School of MedicineSt LouisMissouriUnited States NCT05540860-84.5143939.12711ACTIVE_NOT_RECRUITINGCincinnati Children's HospitalCincinnatiOhioUnited States NCT05540860-82.9987939.96118ACTIVE_NOT_RECRUITINGNationwide Children's HospitalColumbusOhioUnited States NCT05540860-97.3208532.72541ACTIVE_NOT_RECRUITINGCook Children's Medical CenterFort WorthTexasUnited States NCT0135015412.5655355.67594COMPLETEDNeuromuscular Clinic and Research Unit, Dept. Neurology, Rigshospitalet,CopenhagenDenmark NCT04626674-92.2895934.74648RECRUITINGRECRUITINGArkansas Children's HospitalLittle RockArkansasUnited StatesName: , Role: CONTACT, Phone: 501-364-1868, Email: KurakuVV@archildrens.org Name: Aravindhan Veerapandiyan, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT04626674-122.1430237.44188RECRUITINGRECRUITINGStanford UniversityPalo AltoCaliforniaUnited StatesName: , Role: CONTACT, Phone: , Email: neuromuscularresearch@stanford.edu Name: John Day, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT04626674-121.494438.58157RECRUITINGRECRUITINGUniversity of California, DavisSacramentoCaliforniaUnited StatesName: Craig McDonald, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT04626674-90.1978938.62727RECRUITINGRECRUITINGWashington University in St. LouisSt LouisMissouriUnited StatesName: , Role: CONTACT, Phone: 314-362-6981, Email: NeuromusclePediatricResearch@wustl.edu Name: Craig Zaidman, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT04626674-82.9987939.96118ACTIVE_NOT_RECRUITINGRECRUITINGNationwide Children's HospitalColumbusOhioUnited States NCT04626674-97.0969633.01457RECRUITINGRECRUITINGNeurology Rare Disease CenterFlower MoundTexasUnited StatesName: , Role: CONTACT, Phone: 972-999-1011, Email: Research@neuromdcenter.com Name: Diana Castro, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT04626674-76.2852236.84681RECRUITINGRECRUITINGChildren's Hospital of The King's DaughtersNorfolkVirginiaUnited StatesName: , Role: CONTACT, Phone: , Email: Proud.Research@chkd.org Name: Crystal Proud, MD, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT00844597-0.1257451.50853COMPLETEDGreat Ormond Street HospitalLondonEnglandUnited Kingdom NCT00844597-1.6139654.97328COMPLETEDRoyal Victoria InfirmaryNewcastle upon TyneEnglandUnited Kingdom NCT069026102.348848.85341RECRUITINGRECRUITINGHôpital Pitié-SalpêtrièreParisFranceName: David Cohen, Role: CONTACT, Phone: 0142162351, Email: david.cohen@aphp.fr NCT069026100.3434846.58261RECRUITINGRECRUITINGHôpital Henri LaboritPoitiersFranceName: Jean Xavier, Role: CONTACT, Phone: 0549445759, Email: jean.xavier@ch-poitiers.fr NCT070388243.7166751.05RECRUITINGRECRUITINGUniversity Hospital GentGhentBelgiumName: Nicolas Deconinck, Role: CONTACT, Phone: +32 473 96 66 19, Email: Nicolas.Deconinck@uzgent.be Name: Nicolas Deconinck, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT070388244.7009350.87959RECRUITINGRECRUITINGUZ LeuvenLeuvenBelgiumName: Liesbeth De Waele, Role: CONTACT, Phone: +32 1634 3845, Email: Liesbeth.dewaele@uzleuven.be Name: Liesbeth De Waele, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT070388245.5674950.63373RECRUITINGRECRUITINGCentre Hospitalier Régional de la CitadelleLiègeBelgiumName: Aurore Daron, Role: CONTACT, Phone: +3243218515, Email: Aurore.daron@citadelle.be Name: Aurore Daron, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT070388249.1895145.46427RECRUITINGRECRUITINGIRCCS Ospedale San RaffaeleMilanItalyName: Stefano Previtali, Role: CONTACT, Phone: 0226435080, Email: previtali.stefano@hsr.it Name: Stefano Previtali, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT0703882412.5113341.89193RECRUITINGRECRUITINGOspedale Pediatrico Bambino GesuRomeItalyName: Adele D'Amico, Role: CONTACT, Phone: +393888449868, Email: adele2.damico@opbg.net Name: Adele D'Amico, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT0703882412.5113341.89193RECRUITINGRECRUITINGFondazione Policlinico Universitario A. Gemelli IRCCS - Universita Cattolica del Sacro CuoreRomeItalyName: Eugenio Maria Mercuri, Role: CONTACT, Phone: 06 3015 4860, Email: eugeniomaria.mercuri@policlinicogemelli.it Name: Eugenio Maria Mercuri, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT070388244.4930652.15833RECRUITINGRECRUITINGLeids Universitair Medisch CentrumLeidenNetherlandsName: Erik Niks, Role: CONTACT, Phone: +31 (0)71 5262197, Email: E.H.Niks@lumc.nl Name: Erik Niks, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT070388245.8527851.8425NOT_YET_RECRUITINGRECRUITINGStichting Radboud Universitair Medisch CentrumNijmegenNetherlandsName: Saskia Houwen, Role: CONTACT, Phone: +31 (0)243614892, Email: Saskia.Houwen@radboudumc.nl Name: Saskia Houwen, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT070388242.1589941.38879RECRUITINGRECRUITINGHospital Universitario Vall d'HebronBarcelonaSpainName: David Gomez Andres, Role: CONTACT, Phone: +34620539379, Email: david.gomezandres@vallhebron.cat Name: David Gomez Andres, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT070388242.1589941.38879RECRUITINGRECRUITINGHospital Sant Joan de DeuBarcelonaSpainName: Andres Nascimento, Role: CONTACT, Phone: +34936009733, Email: andres.nascimento@sjd.es Name: Andres Nascimento, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT07038824-1.5478553.79648RECRUITINGRECRUITINGLeeds General InfirmaryLeedsUnited KingdomName: Cristina Martos Lozano, Role: CONTACT, Phone: +441133923113, Email: c.martoslozano@nhs.net Name: Cristina Martos Lozano, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT07038824-2.9779453.41058NOT_YET_RECRUITINGRECRUITINGAlder Hey Children's NHS Foundation TrustLiverpoolUnited KingdomName: Rajesh Madhu, Role: CONTACT, Phone: +4401512284811, Email: Rajesh.Madhu@alderhey.nhs.uk Name: Rajesh Madhu, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT07038824-0.1257451.50853RECRUITINGRECRUITINGGreat Ormond Street Hospital for ChildrenLondonUnited KingdomName: Giovanni Baranello, Role: CONTACT, Phone: 0039 02074059200, Email: g.baranello@ucl.ac.uk Name: Giovanni Baranello, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT07038824-2.2374353.48095NOT_YET_RECRUITINGRECRUITINGRoyal Manchester Children's HospitalManchesterUnited KingdomName: Gary McCullagh, Role: CONTACT, Phone: +44 161 701 2346, Email: gary.mccullagh@cmft.nhs.uk Name: Gary McCullagh, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT07038824-1.2559651.75222RECRUITINGRECRUITINGOxford University Hospitals NHS Foundation TrustOxfordUnited KingdomName: Laurent Servais, Role: CONTACT, Phone: 07423213373, Email: laurent.servais@paediatrics.ox.ac.uk Name: Laurent Servais, Role: PRINCIPAL_INVESTIGATOR, Phone: , Email: NCT0743614374.3507131.558RECRUITINGRECRUITINGPsrd HospitalLahorePunjab ProvincePakistanName: IMRAN AMJAD, PhD, Role: CONTACT, Phone: 9233224390125, Email: Imran.amjad@riphah.edu.pk Name: Muhammad Asif Javed, Role: CONTACT, Phone: 923224209422, Email: a.javed@riphah.edu.pk NCT01506518-79.0558435.9132COMPLETEDThe University of North Carolina at Chapel Hill HospitalsChapel HillNorth CarolinaUnited States