Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Registry

NCT00082108 | Recruiting

• 2 other identifiers: NIAMS-104U54NS048843
• Study Type: observational
• Target: 3,000
• Locations: 1 country
• Sites: 1

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.

Conditions

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

Keywords

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

Outcome Measures

Primary Outcomes (1)

• Patient reported outcomes

  Annual

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• Diagnosed with DM, FSHD, or related diseases or are an unaffected family member of someone diagnosed with one of these diseases

Sponsors & Collaborators

• University of Rochester: lead
• National Institute of Neurological Disorders and Stroke (NINDS): collaborator

Study Sites (1)

University of Rochester Medical Center, Department of Neurology

Rochester, New York, 14642, United States

RECRUITING

Related Links

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

MeSH Terms

Conditions

Myotonic Dystrophy; Muscular Dystrophy, Facioscapulohumeral; Muscular Dystrophies

Condition Hierarchy (Ancestors)

Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Diseases; Myotonic Disorders; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Nervous System Diseases; Neuromuscular Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Johann Hamel, MD

  University of Rochester Medical Center, Department of Neurology

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Registry Coordinator

CONTACT

888-925-4302; dystrophy_registry@urmc.rochester.edu

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Associate Professor of Neurology

Study Record Dates

• First Submitted: April 29, 2004
• First Posted: April 30, 2004
• Study Start: September 1, 2000
• Primary Completion (Estimated): June 1, 2028
• Study Completion (Estimated): June 1, 2028
• Last Updated: October 15, 2025

Record last verified: 2025-10

Locations

US (1)