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Pompe disease study aims to unlock immune secrets for better treatment

NCT ID NCT01665326

First seen Apr 14, 2026 · Last updated Jun 22, 2026 · Updated 14 times

Summary

This study follows up to 400 children with Pompe disease to see how their immune system reacts to enzyme replacement therapy. Researchers will collect medical records from birth to age 18 to understand which children develop antibodies that block treatment. The goal is to improve care by identifying who might benefit from immune-suppressing drugs alongside standard therapy.

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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.

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Contacts and locations

Study contacts

  • Contact

    Phone: •••-•••-•••• Email: •••••@•••••

  • Contact

    Phone: •••-•••-•••• Email: •••••@•••••

Locations

  • Duke University Medical Center

    RECRUITING

    Durham, North Carolina, 27710, United States

    Contact Phone: •••-•••-•••• Email: •••••@•••••

    Contact Phone: •••-•••-•••• Email: •••••@•••••

    Contact

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 (Myozyme/Lumizyme)

What this could lead to

If successful, this study could help doctors predict which children with Pompe disease will respond best to enzyme therapy and who might need immune suppression.

What could go wrong

This is an observational study, not a treatment trial. It will not directly test a new therapy, so any benefits are indirect and long-term.

Conditions

The condition(s) this trial relates to.

glycogen storage disease II Glycogen Storage Disease Type II

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.