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Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Registry

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ClinicalTrials.gov Identifier: NCT00082108
Recruitment Status : Recruiting
First Posted : April 30, 2004
Last Update Posted : January 4, 2022
National Institute of Neurological Disorders and Stroke (NINDS)
Information provided by (Responsible Party):
Rabi Tawil, 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.

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.

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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

Primary Outcome Measures :
  1. Patient reported outcomes [ Time Frame: Annual ]

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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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.

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00082108

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

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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)
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Principal Investigator: Richard T. Moxley, III, MD University of Rochester Medical Center, Department of Neurology
Additional Information:
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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    Key Record Dates
Last Update Posted: January 4, 2022
Last Verified: January 2022
Keywords provided by Rabi Tawil, University of Rochester:
Muscular Dystrophy
Facioscapulohumeral Myotonic Dystrophy
Myotonic Dystrophy
Additional relevant MeSH terms:
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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