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

Recruiting now

Conditions studied: Pompe Disease

In brief

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.

Key facts

Study ID

NCT01665326

Run by

Duke University

People needed

400

Starts

2009-09-01

Expected to finish

2029-03-01

Last updated by the study team

2026-04-08

Who can join

Age: any. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

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

Where it is running

• Duke University Medical Center — Durham, North Carolina, United States (enrolling)

Full record on ClinicalTrials.gov

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