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.
Disclaimer
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This is a summary of
the original study
.
Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.
This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.
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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
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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