New study tracks early signs of pompe disease in newborns
NCT ID NCT03694561
First seen Jun 26, 2026 · Last updated Jun 26, 2026
Summary
This study follows 20 newborns and children diagnosed with late-onset Pompe disease through newborn screening. Researchers will track their health for up to 4.5 years to document early muscle and joint symptoms, biomarkers, and quality of life. The goal is to learn when to start preventive treatments like enzyme replacement therapy.
What this could mean
Our plain-language read of the trial. This is informational only — not medical advice or a prediction.
What this could lead to
If successful, this study could help doctors know when to start enzyme replacement therapy in children with late-onset Pompe disease.
What could go wrong
This is an observational study with no treatment being tested, so it will not directly improve health. It only gathers information and may not lead to clear guidelines.
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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Duke University
Durham, North Carolina, 27705, United States