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New enzyme therapy gives hope to babies with rare muscle disease

NCT ID NCT04910776

Disease control Sponsor: Sanofi 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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 Jun 27, 2026

Summary

This study tests a new enzyme replacement therapy called avalglucosidase alfa in babies with infantile-onset Pompe disease, a rare genetic disorder that causes severe muscle weakness and breathing problems. The treatment is given through an IV every other week for up to 4 years. The main goal is to see if it helps babies survive and stay off breathing machines.

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

17 people

The number who actually took part.

Started

Sep 2021

Expected to finish

Aug 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 days to 12 months

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: * Participants must have confirmed diagnosis of infantile-onset Pompe disease defined as: the presence of 2 lysosomal acid α-glucosidase (GAA) pathogenic variants and a documented GAA deficiency from blood, skin, or muscle tissue; or the presence of 1 GAA pathogenic variant and a documented GAA deficiency from blood, skin and muscle tissue in 2 separate samples (from either 2 different tissues or from the same tissue but at 2 different sampling dates). * Participants must have established cross-reactive immunological material (CRIM) status available prior to enrollment. * Participants must have cardiomyopathy at the time of diagnosis: ie, left ventricular mass index (LVMI) equivalent to mean age specific LVMI * +1 standard deviation for participants diagnosed by newborn screening or sibling screening; * +2 standard deviation for participants diagnosed by clinical evaluation. * Parents or legally authorized representative(s) must be capable of giving signed informed consent. Exclusion Criteria: * Participants with symptoms of respiratory insufficiency, including any ventilation use (invasive or noninvasive) at the time of enrollment. * Participants with major congenital abnormality. * Participants with clinically significant organic disease (with the exception of symptoms relating to Pompe disease). * Participant received any Pompe disease specific treatment, eg enzyme-replacement gene therapy (ERT). * Participant who has previously been treated in any clinical trial of avalglucosidase alfa. * Participant not suitable for participation, whatever the reason, as judged by the Investigator, including medical or clinical conditions, or participants potentially at risk of noncompliance to study procedures. The above information is not intended to contain all considerations relevant to a patient's potential participation in a clinical trial.

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Conditions

The condition(s) this trial relates to.

glycogen storage disease due to acid maltase deficiency, infantile 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.

Glycogen storage disease type II

Contacts and locations

Locations

  • Advanced Medical Genetics- Site Number : 8400002

    Hawthorne, New York, 10532, United States

  • Children's Hospitals and Clinics of Minnesota- Site Number : 8400008

    Minneapolis, Minnesota, 55404, United States

  • Cincinnati Children's Hospital Medical Center- Site Number : 8400001

    Cincinnati, Ohio, 45229, United States

  • Duke University Medical Center- Site Number : 8400004

    Durham, North Carolina, 27710, United States

  • Investigational Site Number : 0560001

    Leuven, 3000, Belgium

  • Investigational Site Number : 1560001

    Shanghai, 200120, China

  • Investigational Site Number : 1560002

    Qingdao, 266034, China

  • Investigational Site Number : 1580001

    Taipei, 100, Taiwan

  • Investigational Site Number : 2760001

    Bad Oeynhausen, 35392, Germany

  • Investigational Site Number : 3800002

    Monza, Lombardy, 20052, Italy

  • Investigational Site Number : 5280001

    Rotterdam, 3015 CE, Netherlands

  • Investigational Site Number : 7240001

    Esplugues de Llobregat, Catalunya [Cataluña], 08950, Spain

  • Investigational Site Number : 8260001

    London, London, City of, WC1N 3JH, United Kingdom

  • Investigational Site Number : 8260002

    Manchester, M13 9WL, United Kingdom

  • Seattle Children's Hospital- Site Number : 8400003

    Seattle, Washington, 98105, United States

  • Stanford Hospital- Site Number : 8400006

    Stanford, California, 94305, United States

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