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 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.

Eligibility
Participation Requirements
Sex: All
Minimum Age: 7 days
Maximum Age: 100
Healthy Volunteers: f
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: 2002-01
Estimated Completion Date: 2027-12-31
Participants
Target number of participants: 1000
Sponsors
Leads: Boston Children's Hospital
Collaborators: National Institute of Neurological Disorders and Stroke (NINDS)

This content was sourced from clinicaltrials.gov