Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Registry

Muscular Dystrophy Clinical Trial

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT00082108
• Other study ID #: NIAMS-104
• Secondary ID: U54NS048843
• Status: Recruiting
• Start date: September 2000
• Est. completion date: June 2024

Study information

• Verified date: July 2023
• Source: University of Rochester
• Contact: Registry Coordinator
• Phone: 888-925-4302
• Email: dystrophy_registry[@]urmc.rochester.edu
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 3000
• Est. completion date: June 2024
• Est. primary completion date: June 2024
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: N/A and older

Eligibility

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:

• No family history of DM, FSHD, or related diseases

Related Conditions & MeSH terms

• Congenital Myotonic Dystrophy
• Facioscapulohumeral Muscular Dystrophy
• Muscular Dystrophies
• Muscular Dystrophy
• Muscular Dystrophy, Facioscapulohumeral
• Myotonic Disorders
• Myotonic Dystrophy
• Myotonic Dystrophy Type 1
• Myotonic Dystrophy Type 2
• Myotonic Muscular Dystrophy
• PROMM (Proximal Myotonic Myopathy)
• Steinert's Disease

Locations

Country	Name	City	State
United States	University of Rochester Medical Center, Department of Neurology	Rochester	New York

Sponsors (2)

Lead Sponsor	Collaborator
University of Rochester	National Institute of Neurological Disorders and Stroke (NINDS)

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Patient reported outcomes		Annual

External Links

•   Click here for more information about the National Registry.
•   Click here for the National Registry's Facebook page.