Molecular Analysis of Patients With Neuromuscular Disease

Recruiting now

Conditions studied: Neuromuscular; Disorder, Hereditary, Duchenne/Becker Muscular Dystrophy, Limb-girdle Muscular Dystrophy

In brief

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.

Key facts

Study ID

NCT00390104

Run by

Boston Children's Hospital

People needed

1000

Starts

2002-01-01

Expected to finish

2027-12-31

Last updated by the study team

2023-04-24

Who can join

Age: 0 and older, up to 100. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• 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

You may not qualify if…

• 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

Where it is running

• Boston Children's Hospital — Boston, Massachusetts, United States (enrolling)

Full record on ClinicalTrials.gov

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