Researchers at Amicus Therapeutics are looking for participants with late-onset Pompe disease who are being treated with enzyme replacement therapy (ERT) to participate in an observational study. The study is designed to help researchers evaluate the change in muscle function and respiratory endpoints over approximately nine to 12 months. During that time, participants will have eight clinic visits involving muscle and respiratory function tests. Throughout the study, participants will continue to see their regular doctor for routine care.
In order to be eligible to participate, individuals must:
- Be between 18 and 75 years of age
- Weigh at least 50 kilograms (110.2 pounds)
- Have a diagnosis of Pompe disease based on documented deficiency of GAA activity and a documented GAA mutation
- Be receiving the standard of care ERT at the recommended dose of 20mg/kg every other week for the past two years or more
- Is able to walk at least 200 meters in the six-minute walk test (6MWT)
- Meet defined respiratory and other criteria
The study is taking place at nine sites throughout the United States, and support for travel costs may be available.
To learn more or to inquire about participation, contact firstname.lastname@example.org.