Hiroki, Age 26
Living with Pompe Disease
Programs & Pipeline ❯ Pompe Disease
About Pompe Disease
- Pompe disease is an inherited Lysosomal Storage Disorder (LSD) caused by a deficiency of the enzyme acid alpha-glucosidase (GAA).
- Reduced or absent levels of GAA lead to the accumulation of the substrate glycogen in the lysosomes of muscles and other tissues.
- Progressive accumulation of glycogen is believed to lead to the morbidity and mortality associated with Pompe disease, including muscle weakness and respiratory insufficiency
Pompe Disease Clinical Trials
A Thank You to All Participants: At Amicus, we believe that all study participants are equal clinical research partners in the drug development process. Without the support of their families, friends, and healthcare teams, the Amicus clinical research program could not move forward. Amicus would like to express its gratitude to the Pompe community and all involved in the ongoing and completed clinical trials and all of our clinical research.
AT-GAA: Phase 1/2 Safety Study (ATB200-02 Study)
More Information:
www.clinicaltrials.gov: NCT02675465
AT-GAA: Phase 3 PROPEL Study (ATB200-03 Study)
More Information:
www.clinicaltrials.gov: NCT03729362
Preclinical Gene Therapy Program
Amicus announced a major collaboration with the Gene Therapy Program in the Perelman School of Medicine at the University of Pennsylvania (Penn) to pursue research and development of novel gene therapies for Pompe disease. This relationship will combine Amicus’ protein engineering and glycobiology expertise with Penn’s adeno associated virus (AAV) gene transfer technologies to develop AAV gene therapies designed for optimal cellular uptake, targeting, dosing, safety and manufacturability.