Study Details
Collecting Health Information of People with Pompe Disease
(IRB#: IRB_00187886)
Pompe disease is a rare, genetic disorder where glycogen builds up in cells, damaging muscles and organs like the heart. It is caused by a lack of the enzyme acid alpha-glucosidase (GAA), which is needed to break down glycogen. Symptoms include rapid progressive weakness and an enlarged heart in infants, to slow-progressing muscle weakness and respiratory issues in older adults. This study will collect health information to learn how treatment affects them. People in the study will not receive medication. People will complete surveys once a year for 5 years.
- All genders
- All Ages
- Volunteers with special conditions
- In Person
- Unpaid
Who can participate?
Gender: All genders
Age: All Ages
Volunteers: Volunteers with special conditions
Location: In Person
Inclusion Criteria
- All ages
- Diagnosed with Pompe disease
- Access to email
Exclusion Criteria
- Receiving therapy for Pompe disease in another study
Will I be paid for my time?
No
IRB#: IRB_00187886
PI: David Viskochil
Department: PEDIATRICS
Approval Date: 2025-11-20 22:17:00
Specialties: Pediatric Genetics
I am Interested