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New hope for kids with pompe: enzyme combo trial underway

NCT ID NCT03911505

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

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing This study
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 27, 2026 · Last updated Sep 18, 2026 · Updated 2 times

Summary

This study tests a new treatment called cipaglucosidase alfa/miglustat in children (0 to under 18 years) with late-onset Pompe disease. The goal is to see if it is safe and how well it works. Participants either have never had enzyme therapy before or have been on it for at least 6 months. The treatment aims to control the disease, not cure it.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Phase

Phase 3

Large-scale testing in a bigger group. Usually the last step before a treatment can be approved.

Participants

21 people

The number who actually took part.

Started

Feb 2020

Expected to finish

Sep 2027

An estimate. End dates often move.

Lead sponsor

A company

The lead sponsor is a pharmaceutical, biotech, or medical-device company.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Ages

0 to 17 years

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

Inclusion Criteria: 1. Male or female subjects (ERT-naïve \[have never received a dose of rhGAA\] or ERT-experienced \[have received rhGAA every 2 weeks for at least 6 months immediately before enrollment, and if ERT dosage has been modified, must have been on the modified dosage for at least 3 months before enrollment\]) diagnosed with LOPD who are aged 12 to \<18 years at screening (Cohort 1 only) or aged 0 months to \< 12 years at screening (Cohort 2 only) 2. Subject weighs ≤ 115 kg. (Cohort 1 Only) 3. Subject must have a diagnosis of LOPD based on documentation as defined in study protocol 4. If of reproductive potential and if sexually active, female and male subjects agree to use a highly effective method of contraception throughout the duration of the study and for up to 90 days after their last dose of Cipaglucosidase Alfa/Miglustat 5. Subject has a sitting forced vital capacity (FVC) ≥ 30% of the predicted value for healthy Adolescents at screening (Cohort 1 only) 6. Subject (aged 12 to \<18 years; Cohort 1) performs one 6-Minute Walk Test (6MWT) (≥ 75 meters) at screening that is valid, as determined by the clinical evaluator, or subject (aged ≥ 5 to \< 12 years; Cohort 2) performs one 6MWT (≥ 40 meters) at screening that is valid, as determined by the clinical evaluator Exclusion Criteria: 1. Subject has received any investigational/experimental drug, oral anabolic steroid or derivative, biologic, or device within 30 days or 5 half-lives of the therapy or treatment, whichever is longer, before screening 2. Subject has received treatment with prohibited medications within 30 days of screening 3. Subject has received any gene therapy at any time 4. Subject has any intercurrent illness or condition at screening or baseline that may preclude the subject from fulfilling the protocol requirements or suggests to the investigator and/or the medical monitor that the potential subject may have an unacceptable risk by participating in this study 5. Subject has a hypersensitivity to any of the excipients in ATB200, approved rhGAA, or AT2221 6. Female subject is pregnant or breast-feeding at screening 7. Subject requires the use of ventilation support for \> 6 hours per day while awake 8. Subject has evidence of moderate to severe hypertrophic cardiomyopathy aligning with classic IOPD 9. In the opinion of the investigator, the parent or legally authorized representative is unlikely or unable to comply with the study requirements 10. Subject has any prior history of illness or condition known to affect motor function, such as, but not limited to, Guillain-Barre syndrome, cerebral palsy, etc 11. Subject who is diagnosed with Pompe disease via newborn screening and is asymptomatic (ie, showing no signs and symptoms of Pompe disease (Cohort 2 Only)

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Conditions

The condition(s) this trial relates to.

glycogen storage disease due to acid maltase deficiency, late-onset 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.

Pompe disease (late-onset)

Contacts and locations

Locations

  • Cincinnati Children's Hospital Medical Center

    Cincinnati, Ohio, 45229, United States

  • Duke University Medical Center

    Durham, North Carolina, 27710, United States

  • Gunma University Hospital

    Gunma, 371-8511, Japan

  • Izumi City General Hospital

    Osaka, Izumi-Shi, 594-0073, Japan

  • Lysosomal and Rare Disorders Research and Treatment Center, Inc.

    Fairfax, Virginia, 22030, United States

  • San Gerardo Hospital

    Monza, 20900, Italy

  • SphinCS GmbH Clinical Science for LSD

    Hochheim am Main, Hesse, 65239, Germany

  • St. Louis Children's Hospital

    St Louis, Missouri, 63110, United States

  • Tohoku University Hospital

    Miyagi, 980-8574, Japan

  • Tokyo Women's Medical University

    Tokyo, 162-8666, Japan

  • UPMC Children's Hospital of Pittsburgh

    Pittsburgh, Pennsylvania, 15224, United States

  • University of Calgary

    Calgary, Alberta, T3B 6A8, Canada

  • University of Florida Clinical Research Center

    Gainesville, Florida, 32610, United States

  • University of Utah, Clinical and Translational Sciences Institute

    Salt Lake City, Utah, 84108, United States

  • Wolfson Children's Hospital

    Jacksonville, Florida, 32207, United States

  • Women's and Children's Hospital

    North Adelaide, South Australia, 5006, Australia

  • Woodruff Memorial Research Building

    Atlanta, Georgia, 30322, United States

More trials for these conditions

Other studies related to the condition(s) this trial covers.