Limb-girdle Muscular Dystrophy Clinical Trial
Official title:
Molecular Analysis of Nucleic Acids Derived From Patients With Neuromuscular Disease and Their Family Members
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.
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. ;
| Status | Clinical Trial | Phase | |
|---|---|---|---|
| Recruiting |
NCT01403402 -
Congenital Muscle Disease Study of Patient and Family Reported Medical Information
|
||
| Terminated |
NCT03783923 -
A Study of Deflazacort (Emflaza®) in Participants With Limb-Girdle Muscular Dystrophy 2I (LGMD2I)
|
Phase 3 | |
| Completed |
NCT02635321 -
MRI and Muscle Involvement in Patients With Mutations in GMPPB
|
N/A | |
| Completed |
NCT00873782 -
Safety Study of Transvenous Limb Perfusion in Human Muscular Dystrophy
|
Phase 1 | |
| Completed |
NCT00457912 -
Genetic Characterization of Individuals With Limb Girdle Muscular Dystrophy
|
N/A | |
| Completed |
NCT04054375 -
Weekly Steroids in Muscular Dystrophy
|
Phase 2 | |
| Recruiting |
NCT06246513 -
A Trial to Learn More About an Experimental Gene Therapy Called Bidridistrogene Xeboparvovec (SRP-9003) as a Possible Treatment for Limb Girdle Muscular Dystrophy 2E/R4 (EMERGENE)
|
Phase 3 | |
| Completed |
NCT00104078 -
Study Evaluating MYO-029 in Adult Muscular Dystrophy
|
Phase 1/Phase 2 | |
| Recruiting |
NCT04475926 -
A Study of the Natural History of Participants With LGMD2E/R4, LGMD2D/R3, LGMD2C/R5, and LGMD2A/R1 ≥ 4 Years of Age, Who Are Managed in Routine Clinical Practice
|
||
| Completed |
NCT02759302 -
MRI on Persons With Mutations in POMT2 Gene (LGMD2N)
|
N/A |