A nationwide network of 16 Italian neuromuscular centers and over 1,200 patients to support research and new therapies.
One year after its launch, Fondazione Telethon’s initiative dedicated to Duchenne muscular dystrophy (DMD) has made substantial progress, evolving from a collaborative platform into a structured, nationwide disease registry designed to support research, clinical development and regulatory decision-making.
A coordinated national effort
The initiative brings together 16 tertiary neuromuscular centers across Italy, forming a highly specialized clinical network. Over the past year, activities have focused on harmonizing more than 15 years of retrospective clinical data and preparing for prospective data collection.
The registry currently includes:
- around 1,200 patients overall,
- 767 already fully integrated, with others being enrolled following updated consent procedures
- over 12,000 clinical visits, across all age groups.
Data are collected directly by clinicians through a standardized electronic case report form (eCRF), ensuring consistency and high quality. All key milestones of the retrospective phase—ethical approvals, unified patient identifiers and data harmonization—have now been completed.
Towards EMA qualification
The project is now entering a new phase, aimed at aligning the registry with European Medicines Agency (EMA) requirements.
Fondazione Telethon and the clinical network plan to apply for EMA qualification for specific uses, including natural history studies, support to clinical trial design, external control cohorts and post-marketing evidence generation. This step reflects the growing need for robust real-world data to complement clinical trials in rare diseases such as DMD.
The value of the registry
Designed as an academic, clinician-driven initiative, the registry ensures systematic data collection through shared protocols and a common data dictionary. It captures detailed longitudinal information on motor, respiratory and cardiac function, genotype, treatments and trial participation.
Importantly, it includes patients across all ages, providing a comprehensive picture of DMD in Italy and supporting the development of new therapeutic strategies.
A collaborative effort
So far, the project has been supported by leading pharmaceutical companies involved in DMD research:Dyne Therapeutics Inc.,Italfarmaco S.p.A., NS Pharma Inc., Roche S.p.A. (*whose contribution has been entirely dedicated to the development of the IT infrastructure), Santhera Pharmaceuticals (Switzerland) Ltd, Sarepta International Holdings GmbH, and Solid Biosciences Inc.
Fondazione Telethon coordinates the initiative, ensuring scientific rigor, governance and alignment with the goal of accelerating therapy development.
Next steps
The network is expected to expand further, with additional centers and around 150–200 more patients, moving towards national coverage. At the same time, prospective data collection will be fully implemented and the EMA qualification process formally initiated.
One year after its launch, the initiative is positioning itself as a national, regulator-ready disease registry, with the potential to support research, inform regulatory decisions and ultimately improve outcomes for people with Duchenne muscular dystrophy.
