Molecular Analysis of Patients With Neuromuscular Disease

Recruiting

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

• Registration Number: NCT00390104
• Lead Sponsor: Boston Children's Hospital

Brief 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.

Detailed Description

We are looking to discover new disease genes responsible for the neuromuscular diseases found in our participants and their families. Our research lab has a long history of identifying novel genes responsible for various forms of neuromuscular disease including; DMD gene, the sarcoglycans, obscurin, and filamin. Each discovery has resulted in advances in our ability to develop diagnostic tests which benefit patients and their families by providing accurate diagnosis, presymptomatic and/or prenatal testing. Genotype-phenotype correlation studies have increased our understanding of the natural history of these rare disorders benefiting patients through better prognostic determinations by clinicians. Biochemical and pathological analysis of muscle biopsy samples in patients with known and unknown types of neuromuscular disease has led to new insights into disease pathophysiology, which we hope will aid in finding new treatments.

Study Timeline

• Study Start: 2002-01
• Study First Submitted: 2006-10-17
• Study First Submitted QC: 2006-10-17
• Study First Posted: 2006-10-19
• Status Verified: 2023-04
• Last Update Submitted: 2023-04-20
• Last Update Posted: 2023-04-24
• Primary Completion: 2026-12-31
• Study Completion: 2027-12-31

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 1000

Inclusion Criteria

Not provided

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Trial Locations

Locations (1)

Boston Children's Hospital; 🇺🇸 Boston, Massachusetts, United States