Myotonic DystrophyNCT00082108
Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Registry
An observational study of Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy, run by University of Rochester at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Myotonic Dystrophy, Facioscapulohumeral Muscular Dystrophy, Muscular Dystrophy
- How many people
- 3,000 participants
- Where
- 1 siteUnited States
- Study dates
- Sep 2000to Jun 2028
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
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.
Who may be able to join
- Diagnosed with DM, FSHD, or related diseases or are an unaffected family member of someone diagnosed with one of these diseases
Who cannot join
None listed.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
University of Rochester Medical Center, Department of Neurology
Rochester, New York, 14642
Registry Coordinator, 888-925-4302, dystrophy_registry@urmc.rochester.edu
Richard T. Moxley, III, MD
About this study
Official title: National Registry of Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Patients and Family Members
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.
Read the 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.
- Conditions
- Myotonic Dystrophy, Facioscapulohumeral Muscular Dystrophy, Muscular Dystrophy, Myotonic Dystrophy Type 1, Myotonic Dystrophy Type 2, Congenital Myotonic Dystrophy
- Keywords
- Registry, FSHD, DM, Muscular Dystrophy, Facioscapulohumeral Myotonic Dystrophy, Myotonic Dystrophy, DM1, DM2, FSH, MMD
- Medical subject headings
- Myotonic Dystrophy, Muscular Dystrophy, Facioscapulohumeral, Muscular Dystrophies
What is being measured
The primary outcome is the main question the study is designed to answer.
Patient reported outcomes
Measured: Annual
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted30 Apr 2004 (estimated)
- Study startSep 2000
- Primary completionJun 2028 (estimated)
- Study completionJun 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Myotonic DystrophyStudies of the same condition, open and under way.
- More trials run by University of RochesterThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Other
- Time perspective
- Prospective
- Enrolment
- 3,000 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University of Rochester
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Johanna Hamel, University of Rochester
- Investigators
- Johann Hamel, MD, Principal investigator, University of Rochester Medical Center, Department of Neurology
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00082108
- Sponsor's protocol ID
- NIAMS-104
- Other IDs
- U54NS048843
- Status last verified
- Oct 2025
- First submitted
- 29 Apr 2004
- Last updated
- 15 Oct 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 15 Oct 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- National Registry of Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Patients and Family Members
- ClinicalTrials.gov ID
- NCT00082108
- Acronym / sponsor ID
- NIAMS-104
- Conditions
- Myotonic Dystrophy, Facioscapulohumeral Muscular Dystrophy, Muscular Dystrophy, Myotonic Dystrophy Type 1, Myotonic Dystrophy Type 2, Congenital Myotonic Dystrophy
- Keywords
- Registry, FSHD, DM, Muscular Dystrophy, Facioscapulohumeral Myotonic Dystrophy, Myotonic Dystrophy, DM1, DM2
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 3,000 participants (estimated)
- Lead sponsor
- University of RochesterUniversity, hospital or other
- Collaborators
- National Institute of Neurological Disorders and Stroke (NINDS)
- Study start
- Sep 2000
- Primary completion
- Jun 2028 (estimated)
- Study completion
- Jun 2028 (estimated)
- First posted
- 30 Apr 2004 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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.
Study design
- Observational model
- Other
- Time perspective
- Prospective
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- 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.
Key inclusion criteria (1 listed)
- Diagnosed with DM, FSHD, or related diseases or are an unaffected family member of someone diagnosed with one of these diseases
Key exclusion criteria (0 listed)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Patient reported outcomes
Time frame: Annual
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 15 Oct 2025.
- Click here for more information about the National Registry.Link provided by the sponsor.
- Click here for the National Registry's Facebook page.Link provided by the sponsor.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Johann Hamel, MD principal investigator
University of Rochester Medical Center, Department of Neurology
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy, run by University of Rochester at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 0 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 15 Oct 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Registry Coordinator (888-925-4302, dystrophy_registry@urmc.rochester.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Patient reported outcomes (time frame: Annual). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 15 Oct 2025.