Limb-Girdle Muscular Dystrophy
Limb-girdle muscular dystrophy (LGMD) is a group of genetic disorders that cause progressive muscle weakness and wasting, primarily affecting the shoulders (shoulder girdle) and hips (pelvic girdle). Life expectancy varies by type and severity, but many individuals can lead long lives with proper medical care and supportive therapy.
Cause: Caused by mutations in various genes involved in muscle function. Inheritance can be autosomal dominant or recessive, depending on the subtype (e.g., LGMD1, LGMD2).
Features: Gradual weakening of hip and shoulder muscles, leading to difficulty climbing stairs, rising from chairs, or lifting objects. Severity and progression vary widely; some individuals may lose the ability to walk.
Diagnosis: Based on symptoms, family history, blood tests (e.g., elevated creatine kinase), genetic testing, EMG, and sometimes muscle biopsy.
Treatment: No cure; management includes physical therapy, orthopedic support, respiratory monitoring, and sometimes cardiac care depending on the subtype.
Active Trials
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Past Trials
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TITLE: A Phase 3 Randomized, Placebo-controlled, Double-blind Study to Evaluate the Efficacy and Safety of BBP-418 (ribitol) in Patients with Limb Girdle Muscular Dystrophy 2I (LGMD2I).
SPONSOR: ML Bio Solutions, Inc.
INDICATION: Limb-Girdle Muscular Dystrophy 2I
PROTOCOL: MLB-01-005
PHASE: 3
DESCRIPTION: This study will evaluate the safety and efficacy of long-term administration of BBP-418 in patients with LGMD2I/R9. The study will include patients ages 12 to 60, consistent with the existing preclinical toxicology profile. This will encompass the significant majority of existing diagnosed patients based upon the established epidemiology of the disease.
STATUS: Active
RECRUITING PATIENTS: No
RDR LOCATION: Georgia