Recruiting

Observational Study

Sponsor:

University of Rochester

Code:

NCT00082108

Conditions

Myotonic Dystrophy

Facioscapulohumeral Muscular Dystrophy

Muscular Dystrophy

Myotonic Dystrophy Type 1

Myotonic Dystrophy Type 2

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Accepted

Study Details

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

Study ID

NCT00082108

Start date

Sep, 2000

Status verified date

Oct, 2025

Completion date

Jun, 2028

Anticipated

Primary completion date

Jun, 2028

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Accepted

Inclusion Criteria:

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

Study Design

Enrollment

3000 participants

Anticipated

Interventions and Outcome Measures

Primary outcome measure

  • Patient reported outcomes [ Time Frame: Annual ]

Central Contacts and Locations

Central contacts

Registry Coordinator

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

Locations

University of Rochester Medical Center, Department of Neurology

Recruiting

Rochester, New York, United States, 14642

Contacts

Registry Coordinator

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

Principal Investigator:

Richard T. Moxley, III, MD

More Information

Sponsor

University of Rochester

Last update posted

Oct 15, 2025

Last verified

Oct, 2025

Keywords

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

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by University of Rochester on 2025-10-15.