Registry for Duchenne and Becker Muscular Dystrophy

NCT07402122 | Not Yet Recruiting

• 1 other identifier: 25-12847-BO
• Study Type: observational
• Target: 1,500
• Locations: 1 country
• Sites: 2

Brief 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.

Conditions

Duchenne Muscular Dystrophy (DMD); Becker Muscular Dystrophy; Dystrophinopathy Symptomatic Female Carrier

Keywords

Muscular Dystrophies; Duchenne Muscular Dystrophy; Becker Muscular Dystrophy; Muscular Dystrophy; Dystrophinopathy; FAIR Principles; Neuromuscular Diseases; Health Related Quality of Life (HRQoL)

Outcome Measures

Primary Outcomes (3)

• EQ-5D-5L

  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).

  * "Baseline" * "every six months" * "through study completion, maximum 15 years"

• EQ VAS

  A visual analog scale on which patients rate their current state of health on a scale from 0 ("worst possible") to 100 ("best possible").

  * "Baseline" * "every six months" * "through study completion, maximum 15 years"

• DMD-QoL

  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.

  * "Baseline" * "every six months" * "through study completion, maximum 15 years"

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

All patients meeting the eligibilty criteria in Germany and Austria.

You may qualify if:

• Genetically confirmed diagnosis of dystrophinopathy
• Female carriers only if they show clinical symptoms of a dystrophinopathy
• Treatment in one of the participating centers
• No age restrictions
• Ability to understand the patient information and sign the informed consent
• Consent capability by the patient themselves and/or by the parents
• Agreement to data exchange between the treating physicians, the telemedicine platform, and the registry
• Possession of a tablet or a smartphone

You may not qualify if:

• Missing legally valid consent form from the patient and/or legal guardians
• Project content is not understandable to the participant and/or legal guardians
• Not in possession of a tablet or smartphone

Sponsors & Collaborators

• Dr. Andreas Ziegler: lead

Study Sites (2)

Universitätsklinikum Essen Klinik für Kinderheilkunde I

Essen, Germany

Location

Universitätsklinik Heidelberg, Zentrum für Kinder- und Jugendmedizin

Heidelberg, Germany

Location

Related Links

• App used in the study.

MeSH Terms

Conditions

Muscular Dystrophy, Duchenne; Muscular Dystrophies; Neuromuscular Diseases

Condition Hierarchy (Ancestors)

Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Diseases; Nervous System Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Ulrike Schara-Schmidt, Prof. Dr.

  Universitätsklinikum Essen, Klinik für Kinderheilkunde

  PRINCIPAL INVESTIGATOR

• Andreas Ziegler, Dr.

  Universitätsklinikum Heidelberg, Zentrum für Kinder- und Jugendmedizin

  STUDY DIRECTOR

Central Study Contacts

Andreas Ziegler, Dr.

CONTACT

004962215632207; FAIR-DMD@med.uni-heidelberg.de

Ulrike Schara-Schmidt, Prof. Dr.

CONTACT

0049 201 723 2508; Ulrike.Schara-Schmidt@uk-essen.de

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 15 Years
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Head of paedKliPS (Pediatric Clinical Pharmacology Study Center)

Study Record Dates

• First Submitted: January 16, 2026
• First Posted: February 11, 2026
• Study Start: April 1, 2026
• Primary Completion (Estimated): December 1, 2040
• Study Completion (Estimated): June 1, 2041
• Last Updated: February 11, 2026

Record last verified: 2026-02

Data Sharing

• IPD Sharing: Will not share

Locations

DE (2)