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Molecular Analysis of Patients With Neuromuscular Disease
study id #: NCT00390104
condition: Limb-girdle Muscular Dystrophy, Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, Facioscapulohumeral Muscular Dystrophy
The purpose of this study is to identify genes and proteins responsible for nerve and muscle 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 but have no causative gene implicated in their disease. We feel that these patients may have new genetic changes in genes coding for important muscle proteins that we have yet to identify. Using molecular genetics to unravel the biochemical basis of these neuromuscular disorders should lead to more accurate diagnosis of these disorders and should lead to potential therapies.
mechanism of action: No pharmaceutical intervention
last updated: November 17, 2019
start date: January 2002
estimated completion: December 31, 2020
size / enrollment: 1000
We aim to identify and characterize the genetic changes 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; dystrophin, 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 biopsies in patient with known and unknown types of neuromuscular disease has led to new insights into disease pathophysiology which we hope will aid in finding treatments.
• Eligible Sexes: all
• 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
• 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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