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

NCT ID NCT04327973

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
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 Results may not be published yet.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 This study
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This status has not been confirmed recently, so it may be out of date.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 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.

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.

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

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. Patient is male or female and 0 to \< 18 years old. 2. Patient has a diagnosis of Pompe disease, based on documentation of GAA genotyping demonstrating variants associated with IOPD. 3. Patient does not currently qualify for or is unable to enroll (eg, due to location, etc) in any commercial drug-sponsored ongoing clinical trial. 4. Patient is currently being treated with an approved ERT and is declining (eg, worsening in motor function, respiratory function/parameters, cardiac function, etc) based on treating physician's clinical judgement. 5. The patient's legal guardian or representative has given informed consent (and assent when age appropriate for regional requirements) to treatment prior to administering ATB200/AT2221 in a manner consistent with all national requirements. 6. If of reproductive potential and sexually active, female subjects agree to use a highly effective method of contraception throughout the duration of the treatment and for up to 90 days after their last dose of ATB200/AT2221. Exclusion Criteria: 1. Patient has a hypersensitivity to any of the excipients in ATB200, alglucosidase alfa, or AT2221 2. Patient has a medical or any other extenuating condition or circumstance that may, in the opinion of the investigator and/or Amicus, pose an undue safety risk to the patient. 3. Concomitant use of miglitol (eg, Glyset), non-AT2221 form of miglustat (eg, Zavesca), acarbose (eg, Precose or Glucobay), voglibose (eg, Volix, Vocarb,or Volibo)

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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.

Pompe disease infantile-onset

How to take part

Only the study team decides who joins. These are the ways to reach them.

  1. The study's own enquiry address

    This study publishes an address for enquiries. See it below .

  2. The places running it

    4 sites in 3 countries. The list below names each one and where it is.

  3. The official record

    ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.

    Open the record ↗

  4. A doctor treating you

    A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.

Contacts and locations

Study contacts

  • Contact

    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

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