Molecular Analysis of Nucleic Acids Derived From Patients With Neuromuscular Disease and Their Family Members

Status: Recruiting
Location: See location...
Study Type: Observational
SUMMARY

The purpose of this study is to identify genes and proteins responsible for neuromuscular disorders by studying genetic material from individuals with 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 the biochemical basis of these neuromuscular disorders will lead to more accurate diagnosis/prognosis of these disorders which will lead to potential therapies.

Eligibility
Participation Requirements
Sex: All
Minimum Age: 7 days
Maximum Age: 100
Healthy Volunteers: No
View:

• 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

Locations
United States
Massachusetts
Boston Children's Hospital
Recruiting
Boston
Contact Information
Primary
Elicia A Estrella, MS, LCGC
elicia.estrella@childrens.harvard.edu
617-919-4552
Backup
Casie Genetti, MS,LCGC
Casie.Genetti@childrens.harvard.edu
617-919-2169
Time Frame
Start Date: January 2002
Estimated Completion Date: December 31, 2026
Participants
Target number of participants: 1000
Authors
Louis M Kunkel
Sponsors
Collaborators: National Institute of Neurological Disorders and Stroke (NINDS)
Leads: Boston Children's Hospital

This content was sourced from clinicaltrials.gov

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