Can early enzyme therapy help babies with pompe disease breathe on their own?
NCT ID NCT04848779
First seen Jun 25, 2026 · Last updated Jun 27, 2026 · Updated 1 time
Summary
This 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 breathing machine after 52 weeks of treatment, along with heart function, motor skills, and growth.
What this could mean
Our plain-language read of the trial. This is informational only — not medical advice or a prediction.
- Active substance
- alglucosidase alfa (enzyme replacement therapy)
- What this could lead to
- If successful, this could confirm that early enzyme replacement helps infants with Pompe disease survive longer without needing a breathing machine.
- What could go wrong
- This is a small observational study with only 16 infants, so results may not apply to all patients. The treatment requires lifelong infusions and may cause immune reactions.
This is an AI summary of the original study and may miss details. Read our disclaimer.
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
Locations
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Advanced Medical Genetics- Site Number : 8400002
Hawthorne, New York, 10532, United States
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Cincinnati Children's Hospital Medical Center- Site Number : 8400001
Cincinnati, Ohio, 45229, United States
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Duke University Medical Center- Site Number : 8400004
Durham, North Carolina, 27710, United States
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Investigational Site Number : 0560001
Leuven, 3000, Belgium
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Investigational Site Number : 1580001
Taipei, 100, Taiwan
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Investigational Site Number : 2500001
Tours, 37000, France
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Investigational Site Number : 2760001
Giessen, 35392, Germany
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Investigational Site Number : 3800001
Florence, 50139, Italy
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Investigational Site Number : 3800002
Monza, Monza E Brianza, 20052, Italy
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Investigational Site Number : 5280001
Rotterdam, 3015 CE, Netherlands
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Investigational Site Number : 7240001
Esplugues de Llobregat, Catalunya [Cataluña], 08950, Spain
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Investigational Site Number : 8260001
London, London, City of, WC1N 3JH, United Kingdom
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Investigational Site Number : 8260002
Manchester, M13 9WL, United Kingdom
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Le Bonheur Children's Hospital- Site Number : 8400005
Memphis, Tennessee, 38103, United States
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Seattle Children's Hospital- Site Number : 8400003
Seattle, Washington, 98105, United States
More trials for these conditions
Other studies related to the condition(s) this trial covers.
- New enzyme therapy gives hope to babies with rare muscle disease
- New hope for babies with rare muscle disease: enzyme therapy trial launches in china
- New hope for kids with pompe disease: experimental drug shows promise
- Pompe disease patients invited to join worldwide registry
- Global pompe registry aims to unlock secrets of rare disease
- Pompe disease patients get continued enzyme therapy in Long-Term safety study