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
18 clinical trials for this condition and its sub-types, 9 tagged with Glycogen storage disease due to acid maltase deficiency, infantile onset itself.
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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 3 • 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 2 • Sponsor: Genzyme, a Sanofi Company • Aim: Disease control
Last updated Jun 27, 2026 09:00 UTC