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
230 clinical trials for this condition and its sub-types.
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Heart drug tested to fight COVID-19 complications
Disease control TerminatedThis study tested a drug called CardiolRx in 90 hospitalized COVID-19 patients who also had heart disease or risk factors like diabetes or high blood pressure. The goal was to see if the drug could lower the chance of death, needing intensive care, or having heart problems. The t…
Phase: PHASE2, PHASE3 • Sponsor: Cardiol Therapeutics Inc. • Aim: Disease control
Last updated Jun 27, 2026 12:23 UTC
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Experimental gene therapy for rare muscle disease shows early promise but study halted
Disease control TerminatedThis study tested a gene therapy called SRP-9003 for people with limb-girdle muscular dystrophy type 2E (LGMD2E), a rare genetic disease that causes muscle weakness. The treatment aimed to deliver a working gene to muscle cells to help them produce a missing protein. Only 6 peopl…
Phase: PHASE1, PHASE2 • Sponsor: Sarepta Therapeutics, Inc. • Aim: Disease control
Last updated Jun 27, 2026 08:12 UTC
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Blood filter during heart bypass may prevent organ damage, but trial stopped early
Disease control TerminatedThis study tested a device called Efferon LPS that filters blood during heart surgery when a heart-lung machine is used. The goal was to see if it could prevent multiple organ failure, especially kidney damage. Only 14 people took part before the study was stopped, so the results…
Phase: NA • Sponsor: Efferon JSC • Aim: Disease control
Last updated Jun 27, 2026 08:03 UTC
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Heart surgery recovery: can patients manage their own precautions?
Symptom relief TerminatedThis study looked at whether letting patients manage their own recovery precautions after heart surgery leads to a better quality of life compared to following standard sternal precautions. Ten adults who had heart surgery were followed for up to a year. Researchers checked pain,…
Phase: NA • Sponsor: University of Chicago • Aim: Symptom relief
Last updated Jun 27, 2026 07:56 UTC
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Painkiller showdown: which is safer for the heart?
Knowledge-focused TerminatedThis study looked at how two common pain relievers—celecoxib (a Coxib) and naproxen (an NSAID)—affect blood clotting in people with rheumatoid arthritis who also have heart disease or are at high risk for it. All participants took low-dose aspirin daily. The goal was to see if on…
Phase: PHASE4 • Sponsor: Platelet and Thrombosis Research, LLC • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:32 UTC
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Scientists gather leftover surgical tissue to unlock secrets of bone disease
Knowledge-focused TerminatedThis study collected bone, cartilage, skin, and fat tissue from 50 patients undergoing surgery at Children's National Medical Center. The goal was to grow cells from these tissues in the lab and analyze them to better understand bone and connective tissue diseases. The study was …
Sponsor: National Institute of Dental and Craniofacial Research (NIDCR) • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:52 UTC