Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Registry

• ClinicalTrials.gov Identifier: NCT00082108
• Recruitment Status: Recruiting
• First Posted: April 30, 2004
• Last Update Posted: November 6, 2019
• Sponsor: University of Rochester
• Collaborator: National Institute of Neurological Disorders and Stroke (NINDS)
• Information provided by (Responsible Party): Rabi Tawil, University of Rochester

Study Description

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.

Condition or disease
Myotonic Dystrophy; Facioscapulohumeral Muscular Dystrophy; Muscular Dystrophy; Myotonic Dystrophy Type 1; Myotonic Dystrophy Type 2; Congenital Myotonic Dystrophy; PROMM (Proximal Myotonic Myopathy); Steinert's Disease; Myotonic Muscular Dystrophy

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 Design

• Study Type: Observational
• Estimated Enrollment: 3000 participants
• Observational Model: Other
• Time Perspective: Prospective
• Official Title: National Registry of Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Patients and Family Members
• Study Start Date: September 2000
• Estimated Primary Completion Date: June 2023
• Estimated Study Completion Date: June 2023

Groups and Cohorts

Outcome Measures

Primary Outcome Measures :

1. Patient reported outcomes [ Time Frame: Annual ]

Eligibility Criteria

• Ages Eligible for Study: Child, Adult, Older Adult
• Sexes Eligible for Study: All
• 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.

Criteria

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

Contacts and Locations

Contacts

Contact: Registry Coordinator; 888-925-4302; dystrophy_registry@urmc.rochester.edu

Locations

United States, New York

University of Rochester Medical Center, Department of Neurology; Recruiting

Rochester, New York, United States, 14642

Contact: Registry Coordinator 888-925-4302 dystrophy_registry@urmc.rochester.edu

Principal Investigator: Richard T. Moxley, III, MD

Sub-Investigator: Rabi Tawil, MD

Sub-Investigator: Charles Thornton, MD

Sponsors and Collaborators

University of Rochester

National Institute of Neurological Disorders and Stroke (NINDS)

Investigators

• Principal Investigator: Richard T. Moxley, III, MD; University of Rochester Medical Center, Department of Neurology

More Information

Additional Information:

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

• Responsible Party: Rabi Tawil, Professor of Neurology, University of Rochester
• ClinicalTrials.gov Identifier: NCT00082108
• Other Study ID Numbers: NIAMS-104; U54NS048843 ( U.S. NIH Grant/Contract )
• First Posted: April 30, 2004
• Last Update Posted: November 6, 2019
• Last Verified: November 2019

Keywords provided by Rabi Tawil, University of Rochester:

Registry; FSHD; DM; Muscular Dystrophy; Facioscapulohumeral Myotonic Dystrophy; Myotonic Dystrophy; DM1; DM2; FSH; MMD

Additional relevant MeSH terms:

Muscular Dystrophies; Myotonic Dystrophy; Muscular Dystrophy, Facioscapulohumeral; Myotonic Disorders; Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Diseases; Neuromuscular Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases