Glycogen storage disease due to acid maltase deficiency, infantile onset
MONDO:0017694Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal.
Also known as: GSD due to acid maltase deficiency, infantile onset, GSD type 2, infantile onset, GSD type II, infantile onset, Pompe disease, infantile onset, alpha-1,4-glucosidase acid deficiency, infantile onset, glycogen storage disease type 2, infantile onset, glycogen storage disease type II, infantile onset, glycogenosis due to acid maltase deficiency, infantile onset
17 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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Can early enzyme therapy help babies with pompe disease breathe on their own?
Disease control OngoingThis study follows 16 infants aged 6 months or younger with infantile-onset Pompe disease, a rare genetic disorder that weakens muscles and breathing. All receive alglucosidase alfa (Myozyme) as part of their routine care. Researchers track how many survive without needing a brea…
Sponsor: Sanofi • Aim: Disease control
Last updated Jun 27, 2026 14:03 UTC
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New enzyme therapy gives hope to babies with rare muscle disease
Disease control OngoingThis study tests a new enzyme replacement therapy called avalglucosidase alfa in babies with infantile-onset Pompe disease, a rare genetic disorder that causes severe muscle weakness and breathing problems. The treatment is given through an IV every other week for up to 4 years. …
Phase: PHASE3 • Sponsor: Sanofi • Aim: Disease control
Last updated Jun 27, 2026 12:05 UTC
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New hope for kids with pompe disease: experimental drug shows promise
Disease control OngoingThis phase 2 trial tests a new enzyme replacement therapy called avalglucosidase alfa (Nexviazyme) in 22 children with infantile-onset Pompe disease who are not responding well to standard treatment. The study aims to see if the new drug is safe and can improve outcomes. Particip…
Phase: PHASE2 • Sponsor: Genzyme, a Sanofi Company • Aim: Disease control
Last updated Jun 27, 2026 09:00 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