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New drug combo hopes to tame rare muscle disease in kids

NCT ID NCT04808505

Recruiting now Disease control Sponsor: Amicus Therapeutics Source: ClinicalTrials.gov ↗

First seen Jun 25, 2026 · Last updated Jun 27, 2026 · Updated 1 time

Summary

This Phase 3 trial is testing a combination of two drugs—cipaglucosidase alfa (an enzyme replacement therapy) and miglustat (an oral medication)—in children with infantile-onset Pompe disease, a rare genetic disorder that weakens muscles and the heart. The study includes both children who have already received enzyme therapy and those who have not. The main goal is to see if the treatment is safe and reduces infusion-related reactions.

What this could mean

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

Active substance
cipaglucosidase alfa (enzyme replacement therapy) combined with miglustat (oral drug)
What this could lead to
If successful, this could offer a more effective treatment option for children with infantile-onset Pompe disease, potentially improving muscle and heart function.
What could go wrong
This is an early-stage Phase 3 trial with only 36 participants, so results may not apply to all patients. The combination therapy may cause infusion reactions or other side effects.

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.

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.

GLYCOGEN STORAGE DISEASE TYPE II INFANTILE ONSET

Contacts and locations

Study contacts

  • Contact

    Email: •••••@•••••

Locations

  • AOU Federico II

    RECRUITING

    Naples, 80131, Italy

  • Cincinnati Children's Hospital Medical Center

    RECRUITING

    Cincinnati, Ohio, 54229, United States

  • Duke University Early Phase Research Unit

    RECRUITING

    Durham, North Carolina, 27710, United States

  • Erasmus MC, Sophia Kinderziekenhuis

    RECRUITING

    Rotterdam, 3015 GD, Netherlands

  • Great Ormond Street Hospital for Children NHS Foundation Trust

    RECRUITING

    London, WC1N3JH, United Kingdom

  • National Taiwan University Hospital

    WITHDRAWN

    Taipei, 100, Taiwan

  • SphinCS GmbH

    RECRUITING

    Höchheim, 65239, Germany

  • The Emory Clinic

    RECRUITING

    Atlanta, Georgia, 30322, United States

  • UPMC Hospital of Pittsburgh

    RECRUITING

    Pittsburgh, Pennsylvania, 15224, United States

  • University of Florida Clinical Research Center

    RECRUITING

    Gainesville, Florida, 32610, United States

  • University of Utah, Clinical and Translational Sciences Institute

    RECRUITING

    Salt Lake City, Utah, 84108, United States

  • Universitätsklinikum Gießen und Marburg GmbH, Zentrum fur Kinderheilkunde und Jugendmedizin Abteilung fur Kinderneurologic, Sozialpadiatric und Epileptologie

    RECRUITING

    Giessen, 35392, Germany

  • Universitätsklinikum Heidelberg - Pädiatrisches Klinisch-Pharmakologisches Studienzentrum (paedKliPS)

    RECRUITING

    Heidelberg, 69120, Germany

  • Universitätsklinikum Münster Klinik für Kinder- und Jugendmedizin Albert-Schweitzer-Campus 1

    RECRUITING

    Münster, 48149, Germany