Clinical Trials Logo

Clinical Trial Summary

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.


Clinical Trial 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. ;


Study Design


Related Conditions & MeSH terms


NCT number NCT00390104
Study type Observational
Source Boston Children's Hospital
Contact Elicia A Estrella, MS, LCGC
Phone 617-919-4552
Email elicia.estrella@childrens.harvard.edu
Status Recruiting
Phase
Start date January 2002
Completion date December 31, 2027

See also
  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
Not yet recruiting NCT06399770 - The Role of Muscle Ultrasound in Assessment of Sample of Patients With Limb-girdle Muscular Dystrophy
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