Our Commitment to Pompe disease

We are dedicated to researching gene therapy with the goal of combating inherited diseases, including the lysosomal storage disorder, Pompe disease, which can dramatically impact heart and skeletal muscle function. We work with patients, their advocates and leading researchers on the path to understand and design investigational gene therapies in hopes of treating this serious disease.

VIEW OUR INVESTIGATIONAL GENE THERAPY RESEARCH PROGRAMS

What is Pompe disease?

Pompe disease is a lysosomal storage disorder and neuromuscular disease, with systemic, multi-organ manifestations resulting from loss of function mutations in the gene encoding acid alpha-glucosidase (GAA). The disease is oftentimes life-limiting and can be fatal. Mutations in the gene prevent the GAA enzyme from breaking down the energy storage molecule, glycogen, effectively, which allows it to build up to toxic levels in lysosomes, common organelles found in cells in the body. This can damage organs and tissues throughout the body, particularly in muscles, causing Pompe disease.

Our Pompe disease patient advocacy team

Jamie Ring, Amy Fisher, and Samantha Willner

Contact us at patients@sparktx.com

Gene therapy research is an investigational approach to treat or prevent genetic disease. We are researching the potential of gene therapy to treat Pompe disease.

Resources for Pompe disease

We work with advocacy groups from around the world to help connect patients and families to education, research, support services and to each other. Below, please find a partial listing of several groups from the Pompe disease advocacy community.

Association for Glycogen Storage Disease
Association for Glycogen Storage Disease
https://www.agsdus.org/
Acid Maltase Deficiency Associations
Acid Maltase Deficiency Associations
http://www.amda-pompe.org
International Pompe Association
International Pompe Association
https://www.worldpompe.org/
Muscular Dystrophy Association
Muscular Dystrophy Association
https://www.mda.org/
United Pompe Foundation
United Pompe Foundation
https://www.unitedpompe.com/