New hope for kids with pompe disease: expanded access to experimental therapy

NCT ID NCT04327973

First seen Jun 26, 2026 · Last updated Jun 26, 2026 · Updated 1 time

Summary

This expanded access program offers a new treatment combination (ATB200 and AT2221) to children with infantile-onset Pompe disease who are not eligible for other clinical trials and are declining on standard enzyme replacement therapy. The goal is to provide access to this experimental therapy for up to 18 years old. While not a cure, it may help control the disease and improve outcomes.

What this could mean

Our plain-language read of the trial. This is informational only — not medical advice or a prediction.

Active substance

ATB200 (enzyme replacement therapy) co-administered with AT2221 (miglustat)

What this could lead to

If this treatment works, it could offer a new option for children with infantile-onset Pompe disease who are not doing well on standard therapy.

What could go wrong

This is an expanded access program, not a formal trial, so results are limited. The treatment may not work for everyone, and there are risks like infusion reactions or side effects from the drug combination.

Disclaimer Read more

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.

glycogen storage disease due to acid maltase deficiency, infantile onset

As listed by the trial registrant

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

Contacts and locations

Study contacts

  • Contact

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

  • Contact

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

Locations

  • National Taiwan University Hospital

    AVAILABLE

    Taipei, 10002, Taiwan

  • UCSF Benioff Children's Hospital Oakland

    AVAILABLE

    Oakland, California, 94609, United States

  • UF Health Shands Hospital

    AVAILABLE

    Gainesville, Florida, 32610, United States

  • University Hospital of Padova

    AVAILABLE

    Padova, Italy