RecruitingNCT01665326

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


Sponsor

Duke University

Enrollment

400 participants

Start Date

Sep 1, 2009

Study Type

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

OTHERObservational

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)

Duke University Medical Center

Durham, North Carolina, United States

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NCT01665326


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