Clinical trial NCT00082108: Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Registry
Official title: National Registry of Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Patients and Family Members
Study type: OBSERVATIONAL
Overall status: RECRUITING
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
Lead sponsor: University of Rochester
Sponsor class: OTHER
Collaborators: name: National Institute of Neurological Disorders and Stroke (NINDS)
First posted: 2004-04-30
Enrollment: 3000
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: OTHER
Time perspective: PROSPECTIVE
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.

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.

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.

Eligibility criteria: Inclusion Criteria:

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

Primary outcomes:
measure: Patient reported outcomes
timeFrame: Annual
Secondary outcomes:
Other outcomes:
Locations:
city: Rochester
country: United States
facility: University of Rochester Medical Center, Department of Neurology
state: New York
Study officials:
affiliation: University of Rochester Medical Center, Department of Neurology
name: Johann Hamel, MD
role: PRINCIPAL_INVESTIGATOR
References: