Registry for Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy
Official title: National Registry of Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Patients and Family Members
Run by University of Rochester · NCT00082108 · Data updated 2026-11-12
This study is creating a registry for people with myotonic dystrophy or facioscapulohumeral muscular dystrophy to share their health information and connect with researchers working to learn more about these conditions.
Quick facts
| Study type | Observational |
|---|---|
| Sex | All |
| Enrollment | 3000 (estimated) |
| Sponsor | University of Rochester Academic / other |
| Locations | 1 site (Rochester, New York) |
| Status | Recruiting |
| Started | September 2000 |
| Main results expected | June 2028 |
| Study ends | June 2028 |
| Registry record updated | October 15, 2025 |
| Trial ID | NCT00082108 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates include individuals diagnosed with DM, FSHD, or related muscular dystrophies, as well as unaffected family members.
✕Probably not a fit
Patients who do not have a diagnosis of DM, FSHD, or related conditions may not benefit from this registry.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This registry connects individuals diagnosed with myotonic dystrophy (DM) or facioscapulohumeral muscular dystrophy (FSHD) with researchers focused on these conditions. Participants can provide information about their health and symptoms, which will help scientists understand these diseases better. The registry also facilitates communication between patients and researchers, allowing for participation in various research activities and studies related to muscular dystrophy. It is sponsored by the National Institutes of Health and aims to promote research on these rare disorders.
Why it matters
Potential benefit: If successful, this registry could enhance research efforts and lead to improved treatments for patients with myotonic dystrophy and FSHD.
How similar studies have gone: Other registries and observational studies have shown success in connecting patients with researchers and advancing understanding of rare diseases.
Who can join: the full rules
Show full inclusion / exclusion criteria
Inclusion Criteria: * Diagnosed with DM, FSHD, or related diseases or are an unaffected family member of someone diagnosed with one of these diseases
Where it's running
-
University of Rochester Medical Center, Department of Neurology
Rochester, New York, United States Recruiting
Study contacts
- Principal investigator: Johann Hamel, MD — University of Rochester Medical Center, Department of Neurology
- Study coordinator: Registry Coordinator
- Email: dystrophy_registry@urmc.rochester.edu
- Phone: 888-925-4302
Similar studies
Other studies for the same condition or treatment. Recruiting studies are listed first.
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Understanding long-term progression in myotonic dystrophy type 1 (DM1)
This study will follow adults with DM1 for at least four years to see how walking, hand function, muscle strength, heart rhythms, and lung function change over time.
-
Online registry for myotonic dystrophy patients
This study is creating an online registry for people with myotonic dystrophy to share their experiences and help researchers find better treatments.
-
Portable markerless video system to measure walking in adults with neuromuscular conditions or healthy volunteers.
This project will test a portable video device that measures walking patterns to see if it can track gait changes in adults with neuromuscular diseases and in healthy volunteers.
-
Assessing Readiness and Endpoints for Pediatric Myotonic Dystrophy
This study is trying to improve how we understand and measure the effects of congenital and childhood myotonic dystrophy to help create better treatments for kids with these conditions.
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Developing new biomarkers for muscular dystrophies
This study is trying to find easier and less painful ways to measure how serious muscular dystrophies are by looking at urine and blood samples and using simple tests, to help improve diagnosis and treatment for people with these conditions.
-
Metabolomic biomarkers for myotonic dystrophy
This study tests whether urine and blood tests, along with muscle function tests, can detect and measure myotonic dystrophy activity and severity without relying on muscle biopsies.
How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.