Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Registry

October 10, 2025 updated by: Johanna Hamel, University of Rochester

National Registry of Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Patients and Family Members

Myotonic dystrophy (DM) and facioscapulohumeral muscular dystrophy (FSHD) are inherited disorders characterized by progressive muscle weakness and loss of muscle tissue. The purpose of this registry is to connect people with DM or FSHD with researchers studying these diseases. The registry will offer individuals with DM and FSHD an opportunity to participate in research that focuses of their diseases. The registry will also help scientists to accomplish research on DM and FSHD and to distribute their findings to patients and care providers.

Study Overview

Status

Recruiting

Conditions

Detailed Description

The National Registry of DM and FSHD Patients and Family Members was developed to create a link between patients and scientists in order to promote research on these rare illnesses. The Registry is sponsored by the National Institutes of Health.

Patients that are interested in joining the Registry can email or call to request an application or download the forms from the website (www.dystrophyregistry.org). The Application packet contains:

  • A Patient Information Form, which asks about your muscle strength, general health, and how your disease affects your daily life
  • A Medical Records Release Form, which allows us to contact your doctor and obtain records about your diagnosis
  • An informed Consent Form, which describes the study's purpose and what you can expect while you are involved with the project.

After you are enrolled in the Registry, there are several ways to participate in research. The activities include:

  • Complete an annual update form to help us keep track of how your symptoms change over time.
  • Receive updates about the progress of the Registry, research highlights, and other news related to muscular dystrophy through newsletters, an email listserv, and Facebook.
  • Receive letters from the Registry when researchers are looking for patients to take part in studies. These projects may include filling out questionnaires, exploring new treatments, and other types of research.

There is no obligation to participate in these activities. Taking part in any study or filling out the annual updates are completely up to you.

Study Type

Observational

Enrollment (Estimated)

3000

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • United States
    • New York
      • Rochester, New York, United States, 14642
        • Recruiting
        • University of Rochester Medical Center, Department of Neurology
        • Contact:
        • Principal Investigator:
          • Richard T. Moxley, III, MD
        • Sub-Investigator:
          • Rabi Tawil, MD
        • Sub-Investigator:
          • Charles Thornton, MD

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

Yes

Sampling Method

Non-Probability Sample

Study Population

Participants will volunteer to participate in this study. The study will be advertised through neuromuscular disease clinics, the National Registry website, Patient Advocacy Groups and MDA Clinics through out the United States.

Description

Inclusion Criteria:

  • Diagnosed with DM, FSHD, or related diseases or are an unaffected family member of someone diagnosed with one of these diseases

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Other
  • Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
Patient reported outcomes
Time Frame: Annual
Annual

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University of Rochester

Collaborators

National Institute of Neurological Disorders and Stroke (NINDS)

Investigators

  • Principal Investigator: Johann Hamel, MD, University of Rochester Medical Center, Department of Neurology

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

September 1, 2000

Primary Completion (Estimated)

June 1, 2028

Study Completion (Estimated)

June 1, 2028

Study Registration Dates

First Submitted

April 29, 2004

First Submitted That Met QC Criteria

April 29, 2004

First Posted (Estimated)

April 30, 2004

Study Record Updates

Last Update Posted (Estimated)

October 15, 2025

Last Update Submitted That Met QC Criteria

October 10, 2025

Last Verified

October 1, 2025

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • NIAMS-104
  • U54NS048843 (U.S. NIH Grant/Contract)

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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