Long-term follow-up of infants with Pompe disease receiving enzyme replacement therapy
Collects medical records of infants with Pompe disease treated with alglucosidase alfa over time.
Plain-language title generated from the registry record
Registry title: Determination of CRIM Status and Longitudinal Follow-up of Individuals With Pompe Disease
Key facts
- Where
- Durham, United StatesSee the site
Where in United States
- Duke University Medical CenterDurham, United StatesTaking people
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Trial details
- Who runs it
- Duke University
- Trial code
- NCT01665326
- Record updated
- 8 April 2026
- Original description
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.Read full original descriptionShow less
Determination of Cross-Reactive Immunological Material (CRIM) Status and Longitudinal Follow-up of Individuals With Pompe Disease
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.
Inclusion: Confirmed diagnosis of infantile, atypical or juvenile onset Pompe disease; Must provide a written informed consent.