Molecular Analysis of Neuromuscular Diseases
This study aims to understand neuromuscular diseases, like Duchenne/Becker muscular dystrophy (DMD/BMD) and limb-girdle muscular dystrophy (LGMD), by identifying new genes responsible for these conditions. Researchers will study muscle tissue from people with known neuromuscular diseases and their family members. The goal is to find the genetic causes of these disorders, which can lead to more accurate diagnoses, better predictions about how the disease might progress, and eventually new treatments. This study is looking for people aged 1 week to 100 years who have a muscular dystrophy diagnosis or are a first-degree relative of someone with such a diagnosis. The current status of this study is unclear.
- Study design
- This is an observational study, meaning participants will be observed without receiving any specific intervention. The study plans to enroll up to 1000 participants.
- What's involved
- Not specified in the trial record.
- Compensation
- Not stated in the trial record.
- Follow-up
- Not specified.
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Molecular Analysis of Patients With Neuromuscular Disease
At a glance
A primary outcome measure isn't published for this study.
Conditions
Where it's being run
1 sites across 1 statesStudy leadership
- Louis M Kunkel, PhD · PRINCIPAL_INVESTIGATOR · Boston Children's Hospital/Harvard Medical School
Who to contact
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