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Study identifier: NCT00390104 Synced from ClinicalTrials.gov · July 29, 2026
● Recruiting

Molecular Analysis of Patients With Neuromuscular Disease

Condition: Neuromuscular; Disorder, Hereditary · Duchenne/Becker Muscular Dystrophy · Limb-girdle Muscular Dystrophy  ·  Sponsor: Boston Children's Hospital

PhaseN/A
Planned participants1000
Who can joinAll sexes, 1 Week to 100 Years
Healthy volunteersNo

About this study

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.

This description comes directly from the study's public registry record.

Talk to the study team

Elicia A Estrella, MS, LCGC  ·  617-919-4552  ·  elicia.estrella@childrens.harvard.edu

Casie Genetti, MS,LCGC  ·  617-919-2169  ·  Casie.Genetti@childrens.harvard.edu

Always discuss trial participation with your own doctor first.

Locations (1)

Boston Children's HospitalBoston, Massachusetts, United StatesRecruiting

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Source record: clinicaltrials.gov/study/NCT00390104