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
Duke University
400 participants
Sep 1, 2009
OBSERVATIONAL
Conditions
Summary
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.
Eligibility
Inclusion Criteria2
- Confirmed diagnosis of infantile, atypical or juvenile onset Pompe disease
- Must provide a written informed consent
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Interventions
This is a longitudinal study focused on the emerging natural history of Infantile Pompe disease, response to ERT using alglucosidase alfa (Myozyme) and response to Immune Tolerance Induction (ITI).
Locations(1)
View Full Details on ClinicalTrials.gov
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NCT01665326