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New study tracks early signs of pompe disease in newborns

NCT ID NCT03694561

Knowledge-focused Sponsor: Duke University 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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 26, 2026 · Last updated Sep 04, 2026 · Updated 2 times

Summary

This study follows 20 newborns and children diagnosed with late-onset Pompe disease through newborn screening. Researchers will track their health for up to 4.5 years to document early muscle and joint symptoms, biomarkers, and quality of life. The goal is to learn when to start preventive treatments like enzyme replacement therapy.

What this could mean

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

What this could lead to
If successful, this study could help doctors know when to start enzyme replacement therapy in children with late-onset Pompe disease.
What could go wrong
This is an observational study with no treatment being tested, so it will not directly improve health. It only gathers information and may not lead to clear guidelines.

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.

Participants

About 20 people

The number the study aims to enrol. It can still change while the study runs.

Started

Mar 2019

Expected to finish

Aug 2027

An estimate. End dates often move.

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

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

Who is studied

Participants who have been diagnosed with Late-Onset Pompe Disease via Newborn Screening (NBS)

Ages

3 to 54 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: * Subject has been diagnosed via newborn screening * Subject has a confirmed and documented diagnosis of Pompe disease and absence of cardiac involvement * Subject has predicted "late-onset" GAA variants such as c.-32-13T\>G, c.2188G\>T, c.1935C\>A, c.1726G\>A, c.118C\>T etc. in homozygosity or compound heterozygosity * Subject must be between 3 and 20 months for infant study or between 24 and 54 months (+/- 3 months) for children study at time of enrollment.

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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.

Gaa deficiency Pompe disease Pompe disease (late-onset)

Contacts and locations

Locations

  • Duke University

    Durham, North Carolina, 27705, United States

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