Molecular Analysis of Patients With Neuromuscular Disease
NCT00390104 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 1000
Last updated 2023-04-24
Summary
The purpose of this study is to identify new genes responsible for neuromuscular disorders and study muscle tissue of patient with known neuromuscular disease, as well as their family members. We are interested in recruiting many types of neuromuscular disease including; Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and limb-girdle muscle dystrophy (LGMD). There are still many patients diagnosed with muscular dystrophy with no causative gene implicated in their disease. Using molecular genetics to unravel basis of these neuromuscular disorders will lead to more accurate diagnosis/prognosis of these disorders which will lead to potential therapies.
Conditions
- Neuromuscular; Disorder, Hereditary
- Duchenne/Becker Muscular Dystrophy
- Limb-girdle Muscular Dystrophy
Sponsors & Collaborators
-
National Institute of Neurological Disorders and Stroke (NINDS)
collaborator NIH - lead OTHER
Principal Investigators
-
Louis M Kunkel, PhD · Boston Children's Hospital/Harvard Medical School
Eligibility
- Min Age
- 1 Week
- Max Age
- 100 Years
- Sex
- ALL
- Healthy Volunteers
- No
Timeline & Regulatory
- Start
- 2002-01-31
- Primary Completion
- 2026-12-31
- Completion
- 2027-12-31
Countries
- United States
Study Locations
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