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

Determination of Cross-Reactive Immunological Material (CRIM) Status and Longitudinal Follow-up of Individuals With Pompe Disease

Who can join

All ages · All sexes

Inclusion Criteria:

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

About the study

This is a longitudinal natural history study of Infantile Pompe disease. The investigators will regularly collect and review medical information regarding the diagnosis of Pompe disease, response to enzyme replacement (ERT) using alglucosidase alfa (Lumizyme/Myozyme) and response to immunosuppressive therapy in cases at risk for developing or those who have developed high and sustained antibodies to ERT. To follow the long-term outcomes, we will collect medical records including but not limited to the diagnosis, clinical parameters, assessments for clinical monitoring, and laboratory values including antibody testing results.

What is being tested

• Observational (other)

Sponsor: Duke University · Participants: 400 · Started: 2009-09

Contact the study team

• Ankit K Desai, MBBS · Phone: 919-613-6310
• Eleanor Rodriguez-Rassi, MPH · Phone: 919-613-1219

Official record on ClinicalTrials.gov — NCT01665326

Locations in the U.S.

Conditions

• Glycogen Storage Disease Type II

From ClinicalTrials.gov, data retrieved Sep 30, 2026. Each study sets its own eligibility; the study team decides who can join.