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
Sponsors and collaborators
Duke University
Lead sponsor
Genzyme, a Sanofi Company
Collaborator