Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Registry

Recruiting

• Conditions: Facioscapulohumeral Muscular Dystrophy; Myotonic Muscular Dystrophy; Muscular Dystrophy; Steinert's Disease; Myotonic Dystrophy Type 1; PROMM (Proximal Myotonic Myopathy); Myotonic Dystrophy; Congenital Myotonic Dystrophy; Myotonic Dystrophy Type 2

• Registration Number: NCT00082108
• Lead Sponsor: University of Rochester

Brief Summary

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.

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 Timeline

• Study Start: 2000-09
• Study First Submitted: 2004-04-29
• Study First Submitted QC: 2004-04-29
• Study First Posted: 2004-04-30
• Status Verified: 2024-12
• Last Update Submitted: 2025-02-03
• Last Update Posted: 2025-02-06
• Primary Completion: 2025-06
• Study Completion: 2025-06

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 3000

Inclusion Criteria

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

Exclusion Criteria

Not provided

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Patient reported outcomes	Annual

Trial Locations

Locations (1)

University of Rochester Medical Center, Department of Neurology; 🇺🇸 Rochester, New York, United States