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

ConditionPompe Disease
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeNot listed
SponsorDuke University

About this trial

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 criteria

Qualifiers

Confirmed diagnosis of infantile, atypical or juvenile onset Pompe disease

Must provide a written informed consent

Disqualifiers

None

Trial design

Treatments tested in this trial

  • Observational

Treatment groups

400 Participants
are divided into 1 treatment group

Sponsors and collaborators

Duke University

Lead sponsor

Genzyme, a Sanofi Company

Collaborator