Status:
RECRUITING
Molecular Analysis of Patients With Neuromuscular Disease
Lead Sponsor:
Boston Children's Hospital
Collaborating Sponsors:
National Institute of Neurological Disorders and Stroke (NINDS)
Conditions:
Neuromuscular; Disorder, Hereditary
Duchenne/Becker Muscular Dystrophy
Eligibility:
All Genders
1-100 years
Brief 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 ...
Detailed Description
We are looking to discover new disease genes responsible for the neuromuscular diseases found in our participants and their families. Our research lab has a long history of identifying novel genes res...
Eligibility Criteria
Inclusion
- The samples used in this study will be derived from individuals at risk for, or suffering from, neuromuscular disease, generally resulting in clinical weakness of one or more muscle groups and their family members.
- Inclusion criteria:
- having a clinical and/or pathological diagnosis of a muscular dystrophy
- being the first degree relative of someone with such a diagnosis
- having had a muscle biopsy if diagnosed with a neuromuscular disease
- willingness to provide a skin biopsy for research only
- Exclusion Criteria:
- not having a neuromuscular diagnosis in you or a family member
- not wishing to participate
- being incapable of giving consent and not having a legal guardian willing or able to do so
Exclusion
Key Trial Info
Start Date :
January 1 2002
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
December 31 2027
Estimated Enrollment :
1000 Patients enrolled
Trial Details
Trial ID
NCT00390104
Start Date
January 1 2002
End Date
December 31 2027
Last Update
April 24 2023
Active Locations (1)
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1
Boston Children's Hospital
Boston, Massachusetts, United States, 02115