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Observational Study of Pompe Disease and ERT Response

This observational study is looking at how people with Pompe disease respond to enzyme replacement therapy (ERT) using alglucosidase alfa (Myozyme/Lumizyme). Researchers want to understand the long-term effects of this treatment and how a patient's natural ability to produce the GAA enzyme (called CRIM status) affects their response. They are also studying how the immune system reacts to the treatment and new ways to manage these reactions. You may be able to join if you have a confirmed diagnosis of infantile, atypical, or juvenile onset Pompe disease. The study will measure how well patients respond to ERT over many years.

Study design
This is an observational study with a planned enrollment of 400 participants. It is a longitudinal natural history study, meaning researchers will follow participants over a long period.
What's involved
Researchers will regularly collect and review your medical information, including diagnosis, clinical parameters, monitoring assessments, and laboratory values like antibody test results. The record does not specify the frequency or type of visits or procedures.
Compensation
Not stated in the trial record.
Follow-up
Participants will be followed for clinical response to enzyme replacement therapy (ERT) for up to 18 years.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

NCT01665326

Determination of CRIM Status and Longitudinal Follow-up of Individuals With Pompe Disease

Recruiting
Not specifiedAll AgesObservational
Duke University
~400 participants
Updated 2026-04-08 on ClinicalTrials.gov
What's tested:Observational

At a glance

Recruiting sites
1 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Clinical response to enzyme replacement therapy (ERT) using alglucosidase alfa (Myozyme)
Measured over Up to 18 years

Conditions

Pompe Disease

Explore related trials

Glycogen Storage Disease Type II

NCT01665326

Where you'd take part

This study runs at 1 site. They're the same protocol — you choose where, and that choice sets who your contact draft is addressed to.

  • Duke University Medical Center

    Durham, North Carolinastudy coordinator listed

    Recruiting

Sites open and close at different times, so the status above is per site — it can differ from the study's overall status.

Study leadership

  • Priya S Kishnani, MD · PRINCIPAL_INVESTIGATOR · Duke University

Who to contact

Ankit K Desai, MBBS
[email protected]
919-613-6310
Email the study team

Opens a ready-to-send draft in your own email app — review before sending.

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Eligibility criteria

Inclusion

Confirmed diagnosis of infantile, atypical or juvenile onset Pompe disease
Must provide a written informed consent

What this trial measures

  • Clinical response to enzyme replacement therapy (ERT) using alglucosidase alfa (Myozyme)Up to 18 years

    Medical records will be tracked until the patient reaches the age of 18 years to follow clinical response to ERT. This will allow us to gain an understanding of CRIM status in relation to clinical outcomes and development for these subjects.