New drug combo hopes to tame rare muscle disease in kids
NCT ID NCT04808505
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.
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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Study contacts
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Contact
Phone: •••-•••-•••• Email: •••••@•••••
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Contact
Phone: •••-•••-•••• Email: •••••@•••••
Locations
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AOU Federico II
RECRUITINGNaples, 80131, Italy
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Cincinnati Children's Hospital Medical Center
RECRUITINGCincinnati, Ohio, 54229, United States
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Duke University Early Phase Research Unit
RECRUITINGDurham, North Carolina, 27710, United States
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Erasmus MC, Sophia Kinderziekenhuis
RECRUITINGRotterdam, 3015 GD, Netherlands
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Great Ormond Street Hospital for Children NHS Foundation Trust
RECRUITINGLondon, WC1N3JH, United Kingdom
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National Taiwan University Hospital
WITHDRAWNTaipei, 100, Taiwan
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SphinCS GmbH
RECRUITINGHöchheim, 65239, Germany
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The Emory Clinic
RECRUITINGAtlanta, Georgia, 30322, United States
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UPMC Hospital of Pittsburgh
RECRUITINGPittsburgh, Pennsylvania, 15224, United States
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University of Florida Clinical Research Center
RECRUITINGGainesville, Florida, 32610, United States
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University of Utah, Clinical and Translational Sciences Institute
RECRUITINGSalt Lake City, Utah, 84108, United States
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Universitätsklinikum Gießen und Marburg GmbH, Zentrum fur Kinderheilkunde und Jugendmedizin Abteilung fur Kinderneurologic, Sozialpadiatric und Epileptologie
RECRUITINGGiessen, 35392, Germany
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Universitätsklinikum Heidelberg - Pädiatrisches Klinisch-Pharmakologisches Studienzentrum (paedKliPS)
RECRUITINGHeidelberg, 69120, Germany
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Universitätsklinikum Münster Klinik für Kinder- und Jugendmedizin Albert-Schweitzer-Campus 1
RECRUITINGMünster, 48149, Germany