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Molecular Analysis of Patients With Neuromuscular Disease
Molecular Analysis of Nucleic Acids Derived From Patients With Neuromuscular Disease and Their Family Members
Who can join
1 Week – 100 Years · All sexes
Full eligibility criteria
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: 1. having a clinical and/or pathological diagnosis of a muscular dystrophy 2. being the first degree relative of someone with such a diagnosis 3. having had a muscle biopsy if diagnosed with a neuromuscular disease 4. willingness to provide a skin biopsy for research only Exclusion Criteria: 1. not having a neuromuscular diagnosis in you or a family member 2. not wishing to participate 3. being incapable of giving consent and not having a legal guardian willing or able to do so
About the study
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.
Sponsor: Boston Children's Hospital · Participants: 1,000 · Started: 2002-01
Contact the study team
- Elicia A Estrella, MS, LCGC · Phone: 617-919-4552
- Casie Genetti, MS,LCGC · Phone: 617-919-2169
Official record on ClinicalTrials.gov — NCT00390104
Locations in the U.S.
| Massachusetts | Boston Children's Hospital, Boston |
Conditions
From ClinicalTrials.gov, data retrieved Sep 29, 2026. Each study sets its own eligibility; the study team decides who can join.