Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Registry

This study is currently recruiting participants. (see Contacts and Locations)
Verified January 2014 by University of Rochester
Sponsor:
Collaborator:
Information provided by (Responsible Party):
Richard T Moxley, University of Rochester
ClinicalTrials.gov Identifier:
NCT00082108
First received: April 29, 2004
Last updated: January 21, 2014
Last verified: January 2014
  Purpose

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
Myotonic Dystrophy
Muscular Dystrophy, Facioscapulohumeral
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 ] [ Designated as safety issue: No ]

Estimated Enrollment: 2300
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 (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 a newsletter once a year about the progress of the Registry, research highlights, and other news related to muscular dystrophy.
  • Receive a letter 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.

  Eligibility

Genders Eligible for Study:   Both
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.

Criteria

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 ClinicalTrials.gov identifier: NCT00082108

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

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

Additional Information:
No publications provided

Responsible Party: Richard T Moxley, Professor of Neurology, University of Rochester
ClinicalTrials.gov Identifier: NCT00082108     History of Changes
Other Study ID Numbers: NIAMS-104, U54NS048843
Study First Received: April 29, 2004
Last Updated: January 21, 2014
Health Authority: United States: Federal Government

Keywords provided by University of Rochester:
Registry
FSHD
DM
Muscular Dystrophy
Facioscapulohumeral Myotonic Dystrophy
Myotonic Dystrophy

Additional relevant MeSH terms:
Muscular Dystrophies
Muscular Dystrophy, Facioscapulohumeral
Myotonic Dystrophy
Muscular Disorders, Atrophic
Muscular Diseases
Musculoskeletal Diseases
Neuromuscular Diseases
Nervous System Diseases
Genetic Diseases, Inborn
Myotonic Disorders
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases

ClinicalTrials.gov processed this record on July 23, 2014