The Dutch Dystrophinopathy Database

The Dutch Dystrophinopathy Database (DDD) * A national registry for patients with Duchenne Muscular Dystrophy (DMD), Becker MD or females with a heterozygous pathogenic DMD variant in the Netherlands * A multicenter database of the Duchenne Centre Netherlands (DCN; Leiden University Medical Center, RadboudUMC and Kempenhaeghe/MUMC). * Captures both self-reported information via questionnaires for patients nationwide, and clinician reported healthcare data from patients visiting the DCN’s academic expert centers. * The underlying framework, FISMA* ensures generation of interoperable, exchangeable, standardized, longitudinal data, captured within its clinical context, enabling the (re)use of Real-World healthcare data.

*FISMA is a Framework for Information Specification, Modelling, and Architecture. FISMA can be seen as combined codebook, thesaurus and dictionary rolled into one that captures real-world data in a relevant, reusable, and semantically interoperable way. Each data element in FISMA is embedded within its clinical context and clearly defined using internationally recognized ontologies and standards, ensuring semantic interoperability and system independence