Molecular Analysis of Patients With Neuromuscular Disease
Molecular Analysis of Nucleic Acids Derived From Patients With Neuromuscular Disease and Their Family Members
Boston Children's Hospital
1,000 participants
Jan 1, 2002
OBSERVATIONAL
Conditions
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.
Eligibility
Inclusion Criteria5
- 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.
- 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 Criteria3
- 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
Interested in this trial?
Get notified about updates and connect with the research team.
Locations(1)
View Full Details on ClinicalTrials.gov
For the most up-to-date information, visit the official listing.
NCT00390104