Try our beta test site
IMPORTANT: Listing of a study on this site does not reflect endorsement by the National Institutes of Health. Talk with a trusted healthcare professional before volunteering for a study. Read more...

Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Registry

This study is currently recruiting participants. (see Contacts and Locations)
Verified August 2016 by University of Rochester
National Institute of Neurological Disorders and Stroke (NINDS)
Information provided by (Responsible Party):
Richard T Moxley, University of Rochester Identifier:
First received: April 29, 2004
Last updated: August 26, 2016
Last verified: August 2016
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.

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

Study Type: Observational
Study Design: Time Perspective: Prospective
Official Title: National Registry of Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Patients and Family Members

Resource links provided by NLM:

Further study details as provided by University of Rochester:

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

Estimated Enrollment: 3000
Study Start Date: September 2000
Estimated Study Completion Date: June 2018
Estimated Primary Completion Date: June 2018 (Final data collection date for primary outcome measure)
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 ( 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.


Ages Eligible for Study:   Child, Adult, Senior
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
  Contacts and Locations
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, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT00082108

Contact: Registry Coordinator 888-925-4302

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   
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)
Principal Investigator: Richard T. Moxley, III, MD University of Rochester Medical Center, Department of Neurology
  More Information

Additional Information:
Responsible Party: Richard T Moxley, Professor of Neurology, University of Rochester Identifier: NCT00082108     History of Changes
Other Study ID Numbers: NIAMS-104
U54NS048843 ( US NIH Grant/Contract Award Number )
Study First Received: April 29, 2004
Last Updated: August 26, 2016

Keywords provided by University of Rochester:
Muscular Dystrophy
Facioscapulohumeral Myotonic Dystrophy
Myotonic Dystrophy

Additional relevant MeSH terms:
Muscular Dystrophies
Muscular Dystrophy, Facioscapulohumeral
Myotonic Dystrophy
Myotonic Disorders
Muscular Disorders, Atrophic
Muscular Diseases
Musculoskeletal Diseases
Neuromuscular Diseases
Nervous System Diseases
Genetic Diseases, Inborn
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases processed this record on May 22, 2017