Actively Recruiting
Molecular Analysis of Patients With Neuromuscular Disease
Led by Boston Children's Hospital · Updated on 2023-04-24
1000
Participants Needed
1
Research Sites
1356 weeks
Total Duration
On this page
Sponsors
B
Boston Children's Hospital
Lead Sponsor
N
National Institute of Neurological Disorders and Stroke (NINDS)
Collaborating Sponsor
AI-Summary
What this Trial Is About
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.
CONDITIONS
Official Title
Molecular Analysis of Patients With Neuromuscular Disease
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Having a clinical and/or pathological diagnosis of muscular dystrophy
- Being a first-degree relative of someone with muscular dystrophy
- Having had a muscle biopsy if diagnosed with a neuromuscular disease
- Willingness to provide a skin biopsy for research only
You will not qualify if you...
- Not having a neuromuscular diagnosis in the participant 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
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
Boston Children's Hospital
Boston, Massachusetts, United States, 02115
Actively Recruiting
Research Team
E
Elicia A Estrella, MS, LCGC
CONTACT
C
Casie Genetti, MS,LCGC
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
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