Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Registry

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT00082108
Recruitment Status : Recruiting
First Posted : April 30, 2004
Last Update Posted : October 4, 2018
National Institute of Neurological Disorders and Stroke (NINDS)
Information provided by (Responsible Party):
Rabi Tawil, University of Rochester

April 29, 2004
April 30, 2004
October 4, 2018
September 2000
June 2023   (Final data collection date for primary outcome measure)
Patient reported outcomes [ Time Frame: Annual ]
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Complete list of historical versions of study NCT00082108 on Archive Site
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Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Registry
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.

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 ( 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.

Observational Model: Other
Time Perspective: Prospective
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Non-Probability Sample
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.
  • 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
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*   Includes publications given by the data provider as well as publications identified by Identifier (NCT Number) in Medline.
June 2023
June 2023   (Final data collection date for primary outcome measure)

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
Sexes Eligible for Study: All
Child, Adult, Older Adult
Contact: Registry Coordinator 888-925-4302
United States
U54NS048843 ( U.S. NIH Grant/Contract )
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Rabi Tawil, University of Rochester
University of Rochester
National Institute of Neurological Disorders and Stroke (NINDS)
Principal Investigator: Richard T. Moxley, III, MD University of Rochester Medical Center, Department of Neurology
University of Rochester
October 2018