Autosomal recessive limb-girdle muscular dystrophy type 2E
MONDO:0011423Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a childhood to adolescent onset of progressive pelvic- and shoulder-girdle muscle weakness, particularly affecting the pelvic girdle (adductors and flexors of hip). Usually the knees are the earliest and most affected muscles. In advanced stages, involvement of the shoulder girdle (resulting in scapular winging) and the distal muscle groups are observed. Calf hypertrophy, cardiomyopathy, respiratory impairment, tendon contractures, scoliosis, and exercise-induced myoglobinuria may be observed.
Also known as: beta-sarcoglycanopathy, LGMD due to beta-sarcoglycan deficiency, LGMD type 2E, LGMD2E, LGMDR4, SGCB autosomal recessive limb-girdle muscular dystrophy, autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCB, autosomal recessive limb-girdle muscular dystrophy type 2E
18 clinical trials for this condition and its sub-types.
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Could a short course of steroids calm a dangerous heart rhythm?
Disease control ENROLLING_BY_INVITATIONThis trial tests whether an 8-week course of the immunosuppressive drug prednisone can reduce episodes of ventricular tachycardia (a potentially fatal fast heart rhythm) and improve heart function in people with non-ischemic cardiomyopathy and confirmed heart inflammation. Partic…
Phase: PHASE4 • Sponsor: Roderick Tung • Aim: Disease control
Last updated Jul 29, 2026 00:00 UTC
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One-Time gene therapy aims to halt rare muscle disease
Disease control OngoingThis study tests a single dose of SRP-9003 gene therapy in 17 people with limb girdle muscular dystrophy 2E/R4, a genetic muscle-weakening disease. The goal is to restore a missing protein in muscle cells and improve muscle function. Both walkers and non-walkers can join, and the…
Phase: PHASE3 • Sponsor: Sarepta Therapeutics, Inc. • Aim: Disease control
Last updated Jun 27, 2026 09:10 UTC
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Experimental gene therapy targets rare muscle disease in first human test
Disease control OngoingThis early-phase trial tests a single-dose gene therapy called SRP-9003 in 6 people with limb girdle muscular dystrophy type 2E/R4, a rare genetic muscle-weakening disease. The main goals are to check safety and see if the therapy can produce the missing beta-sarcoglycan protein …
Phase: PHASE1 • Sponsor: Sarepta Therapeutics, Inc. • Aim: Disease control
Last updated Jun 27, 2026 09:06 UTC
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Super MRI could spot hidden heart damage
Diagnosis OngoingThis study tests whether a new, more powerful 7 Tesla MRI can better detect scarring and swelling in the heart muscle of people with cardiomyopathy. Researchers will scan 13 adults aged 20-70 to see if the higher-resolution images improve diagnosis. The goal is to see if this adv…
Sponsor: University of Pennsylvania • Aim: Diagnosis
Last updated Jun 27, 2026 09:02 UTC
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Scientists watch LGMD progress in 205 patients over years
Knowledge-focused OngoingThis study follows 205 people with four types of limb-girdle muscular dystrophy (LGMD) to understand how the disease changes over time. Participants will have their muscle strength, movement, and breathing tested regularly for up to 5 years. No treatment is given; the goal is to …
Sponsor: Sarepta Therapeutics, Inc. • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:56 UTC