Molecular Analysis of Patients With Neuromuscular Disease

  • STATUS
    Recruiting
  • End date
    Dec 31, 2026
  • participants needed
    1000
  • sponsor
    Boston Children's Hospital
Updated on 23 January 2022
neuromuscular diseases
muscle biopsy
muscular dystrophy
muscle disorders
duchenne muscular dystrophy
becker muscular dystrophy

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.

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.

Details
Condition Limb-girdle Muscular Dystrophy, Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, Neuromuscular; Disorder, Hereditary
Clinical Study IdentifierNCT00390104
SponsorBoston Children's Hospital
Last Modified on23 January 2022

Eligibility

Yes No Not Sure

Inclusion Criteria

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

Exclusion Criteria

not having such a diagnosis and not being related to such an individual
not wishing to participate
being incapable of giving consent and not having a legal guardian willing or able to do so
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Complete your scheduled study participation activities and then you are done. You may receive summary of study results if provided by the sponsor.

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