Glycogen storage disease due to acid maltase deficiency, late-onset
MONDO:0018485Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes.
Also known as: Alpha-1,4-glucosidase acid deficiency, late onset, Alpha-1,4-glucosidase acid deficiency, late-onset, GSD due to acid maltase deficiency, late onset, GSD due to acid maltase deficiency, late-onset, GSD type 2, late onset, GSD type 2, late-onset, GSD type II, late onset, GSD type II, late-onset
26 clinical trials for this condition and its sub-types.
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New pompe disease drug moves to first human tests
Disease control CompletedThis early-phase study tested a new drug called ABX1100 in 46 people, including healthy volunteers and patients with late-onset Pompe disease. The main goal was to check safety and how the drug moves through the body. Researchers gave single or multiple doses to find the right am…
Phase: EARLY_PHASE1 • Sponsor: Aro Biotherapeutics • Aim: Disease control
Last updated Jun 27, 2026 12:30 UTC
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Pompe disease drug combo shows Long-Term safety in phase 3 trial
Disease control CompletedThis study tested the long-term safety of a combination therapy (ATB200 and AT2221) in 119 adults with late-onset Pompe disease who had completed a prior study. Participants received the drugs for an extended period, and researchers tracked side effects, walking distance, and lun…
Phase: PHASE3 • Sponsor: Amicus Therapeutics • Aim: Disease control
Last updated Jun 27, 2026 09:10 UTC
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New drug cocktail aims to boost walking and breathing in pompe patients
Disease control CompletedThis phase 3 trial tested a new treatment for adults with late-onset Pompe disease, a rare genetic disorder that weakens muscles and breathing. Participants received either the experimental combo (cipaglucosidase alfa plus miglustat) or the current standard therapy (alglucosidase…
Phase: PHASE3 • Sponsor: Amicus Therapeutics • Aim: Disease control
Last updated Jun 26, 2026 16:41 UTC
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Home breathing training shows promise for pompe patients
Symptom relief CompletedThis study tested whether high-dose inspiratory muscle training (IMT) using a handheld device is safe and feasible for people with late-onset Pompe disease. 34 adults with stable Pompe disease did remote breathing exercises. Researchers measured changes in respiratory strength an…
Phase: NA • Sponsor: Duke University • Aim: Symptom relief
Last updated Jun 27, 2026 07:53 UTC
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Pompe disease may raise risk of brain aneurysms, new study investigates
Knowledge-focused CompletedThis study investigates whether people with late-onset Pompe disease have a higher risk of severe blood vessel problems in the brain and aorta. Researchers will collect medical and genetic data from adults with Pompe disease and from those who have had a brain aneurysm or bleedin…
Sponsor: Hospitales Universitarios Virgen del Rocío • Aim: Knowledge-focused
Last updated Jul 08, 2026 00:00 UTC