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. 2024;11(5):1095-1109.
doi: 10.3233/JND-240061.

The Dutch Dystrophinopathy Database: A National Registry with Standardized Patient and Clinician Reported Real-World Data

N M van de Velde  1   2 , Y D Krom  1   2 , J Bongers  1   2 , R J A Hoek  1   2 , N A Ikelaar  1   2 , M van der Holst  2   3 , K J Naarding  1   2 , J C van den Bergen  4 , E Vroom  5 , A Horemans  6 , J G M Hendriksen  2   7 , I J M de Groot  2   8 , S L S Houwen-van Opstal  2   8 , J J G M Verschuuren  1   2 , H A van Duyvenvoorde  2   9 , R R Snijder  10 , E H Niks  1   2
Affiliations

The Dutch Dystrophinopathy Database: A National Registry with Standardized Patient and Clinician Reported Real-World Data

N M van de Velde et al. J Neuromuscul Dis. 2024.

Abstract

Background: Duchenne and Becker muscular dystrophy lack curative treatments. Registers can facilitate therapy development, serving as a platform to study epidemiology, assess clinical trial feasibility, identify eligible candidates, collect real-world data, perform post-market surveillance, and collaborate in (inter)national data-driven initiatives.

Objective: In addressing these facets, it's crucial to gather high-quality, interchangeable, and reusable data from a representative population. We introduce the Dutch Dystrophinopathy Database (DDD), a national registry for patients with DMD or BMD, and females with pathogenic DMD variants, outlining its design, governance, and use.

Methods: The design of DDD is based on a system-independent information model that ensures interoperable and reusable data adhering to international standards. To maximize enrollment, patients can provide consent online and participation is allowed on different levels with contact details and clinical diagnosis as minimal requirement. Participants can opt-in for yearly online questionnaires on disease milestones and medication and to have clinical data stored from visits to one of the national reference centers. Governance involves a general board, advisory board and database management.

Results: On November 1, 2023, 742 participants were enrolled. Self-reported data were provided by 291 Duchenne, 122 Becker and 38 female participants. 96% of the participants visiting reference centers consented to store clinical data. Eligible patients were informed about clinical studies through DDD, and multiple data requests have been approved to use coded clinical data for quality control, epidemiology and natural history studies.

Conclusion: The Dutch Dystrophinopathy Database captures long-term patient and high-quality standardized clinician reported healthcare data, supporting trial readiness, post-marketing surveillance, and effective data use using a multicenter design that is scalable to other neuromuscular disorders.

Keywords: Becker muscular dystrophy; Duchenne muscular dystrophy; FAIR; real-world data; registry; trial readiness.

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Conflict of interest statement

M. van der Holst reports paid consultancy for Advancing Trial Outcome Measures (ATOM) international limited outside the submitted work. All other authors report no relevant disclosures in regard to this study.

Figures

Fig. 1
Fig. 1
Flowchart of the number of Dutch participants with Duchenne, Becker and females with DMD mutation (re-)registered in the third version of DDD. Data analyzed per November 1, 2023. DDD: Dutch Dystrophinopathy Database, DDD1: first version in 2008. DDD2: second version in 2014. DDD3: third and current version since 2020. DMD: Duchenne muscular dystrophy, BMD: Becker muscular dystrophy. Females: Females with a pathogenic DMD variant. †Number registered as deceased.
Fig. 2
Fig. 2
Demographic representation of registrants in the third version of DDD. In panel A, data are categorized by year of birth for 524 DMD (grey bars) and 174 BMD registrants (black bars). In panel B current age is shown for 355 DMD and 135 BMD participants registered as alive on November 1, 2023.
Fig. 3
Fig. 3
Number of participants per registration level within the third version of DDD. Black bars represent the participants who have their outpatient visit at one of the DCN centers (Radboudumc or LUMC). Gray bars represent the participants who don’t visit a DCN center. The inserted graph shows the number of participants with DMD or BMD who consented storage of their healthcare data, categorized per age. DMD; Duchenne muscular dystrophy, BMD; Becker muscular dystrophy, DCN; Duchenne Center Netherlands.
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