Molecular Analysis of Patients With Neuromuscular Disease

Part of paid clinical trials in Boston, Massachusetts.

Sponsor
Boston Children's Hospital
Study ID
NCT00390104
Status
Recruiting

Conditions

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

Eligibility Criteria

Sex
ALL
Age
1 Week - 100 Years
Healthy Volunteers
Not accepted

Study Details

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.

Key Dates

Start date
Jan 31, 2002
Status verified
Apr 2023
Primary completion
Dec 31, 2026
Completion
Dec 31, 2027

Study Design

Enrollment
1,000 participants (estimated)

Central Contacts

Locations (1)

FacilityCityStateZIPSite coordinators
Boston Children's HospitalBostonMassachusetts02115
Elicia A Estrella, MS, LCGC
617-919-4552
Casie Genetti, MS, LCGC
617-919-2169
Louis M Kunkel, PhD (PRINCIPAL_INVESTIGATOR)

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