Registry for Duchenne and Becker Muscular Dystrophy

Condition(s) studied

Study summary

Duchenne muscular dystrophy (DMD) is an X-linked, recessive, progressive, and degenerative neuromuscular disorder that affects approximately one in 5,000 newborn boys. The established "standard of care" has improved prognosis; however, a causal therapy is not yet available. In 2024 and 2025, the first disease-modifying therapies were approved. These include Vamorolone (Agamree®) as a corticosteroid replacement with a more favorable side-effect profile for children aged four and older, and Givinostat (Duvyzat®) as a combination therapy with corticosteroids for ambulatory boys aged six and older. In this context, the FAIR-DMD Registry was initiated. The registry is based on the so-called FAIR principles. The acronym FAIR stands for the data principles Findable, Accessible, Interoperable and Reusable. The international FAIR principles are guidelines for the description, storage, and publication of scientific or administrative data. The FAIR-DMD registry is a disease-specific, academically managed registry for patients with Duchenne and Becker muscular dystrophy (DMD/BMD). Its goal is to systematically collect clinical data, scientifically monitor new disease-modifying therapies in routine care, and create an evidence-based foundation for the further development of diagnostics, therapy, and care structures. Furthermore, the registry collects data on patients' health related quality of live using an app for data entry. The FAIR-DMD Registry is being established under the auspices of the Society for Neuropediatrics (GNP) and operated in close coordination with Swiss Registry for Neuromuscular Disorders (Swiss-Reg-NMD). The GNP is a non-profit professional society that covers the entire spectrum of neuropediatric topics in clinical and cross-sector care. In the planned pilot phase, the GNP will act as trustee for financing. This model creates the opportunity to structurally address central challenges in health services research and establish a high-quality, internationally compatible registry structure. In the long term, the FAIR-DMD Registry aims to significantly improve care for DMD and BMD patients in German-speaking countries, evaluate the effectiveness of new therapies in clinical practice, and establish binding frameworks for quality-assured care.

Eligibility

Primary outcome measure(s)

• EQ-5D-5L — * "Baseline" * "every six months" * "through study completion, maximum 15 years"
  The EQ-5D is a validated generic instrument for measuring health-related quality of life. It assesses five dimensions (mobility, self-care, usual activities, pain/discomfort, anxiety/depression) and enables the calculation of a health index from 0 (very poor) to 1 (best possible health).
• EQ VAS — * "Baseline" * "every six months" * "through study completion, maximum 15 years"
  A visual analog scale on which patients rate their current state of health on a scale from 0 ("worst possible") to 100 ("best possible").
• DMD-QoL — * "Baseline" * "every six months" * "through study completion, maximum 15 years"
  The DMD-QoL is a disease-specific questionnaire designed to assess the health-related quality of life of people with Duchenne muscular dystrophy. It takes into account physical, emotional, and social aspects as well as the impact of the disease on everyday life. In the DMD-QoL, the raw values of the individual scales are usually transformed onto a scale from 0 to 100. 0 represents the worst possible health-related quality of life, while 100 represents the best possible health-related quality of life-higher values therefore indicate a better perceived quality of life.

Trial sites (30)

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