The Dutch Dystrophinopathy Database: facilitation of trial readiness and effective use of patient data

    Principal Authors: Yvonne Meijer-Krom and Julia Bongers

    The Dutch Dystrophinopathy Database (DDD) is a register for all Dutch patients with Duchenne, Becker muscular dystrophy or female carriers. It comprises a multicenter database of the Duchenne Centre Netherlands (DCN; Leiden University Medical Center, RadboudUMC and Kempenhaeghe/MUMC). At the back-end, we have authored a system-independent information model that sticks to clinical guidelines, is constructed from detailed clinical models comprising data elements that are annotated with meta-information, and as a whole adheres to FAIR-principles. By implementing this model in the electronic health record of the LUMC and in CastorEDC, it yields registration at the source and interoperable information that is directly usable for analysis.

    Upon registration, patients consent to share their contact details. In addition, 95% of the registrants provided optional consent for the yearly questionnaire on disease milestones, and use of clinical data obtained from regular follow-up in DCN centers, 90% for exchange of data with non-commercial partners and 61% with commercial partners.

    709 patients are registered in the DDD of whom 496 patients were alive on October 2022. Of these patients, 66.2% are registered with Duchenne, 25.4% with Becker, 2.3% as intermediate, 1.9% as female carrier, leaving 4,2% missing data.

    The structure of the DDD captures both patient reported and standardized healthcare data with modest burden for patients and clinicians. It proves useful for retrospective cohort-studies, for the approach of eligible participants, and the conditional reimbursement of for example ataluren in the Netherlands.

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