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Pompe disease is a genetic disease caused by a poor expression of the gene encoding an enzyme: the GAA. The absence of this enzyme causes the accumulation of the product it normally degrades in the cells of the heart, the limb muscles and the brain. The injection of an artificially produced GAA significantly increased the life expectancy of children with Pompe disease and stabilized or improved limb muscle strength in adult patients. The aim of our project, which brings together physicians experts of the disease, veterinarians and biologists, is to better understand the action of the treatment on muscle functions and on satellite cells, that allow muscles to repair, inadult patients. With complementary skills and varied approaches that will focus on the enzyme, muscle cells and patients’ health, we propose to better explain the mechanisms of the disease.

Coordinators:

- Marie Anne Colle, UMR PAnTher

- Pascal Laforêt, Raymond Poincaré Hospital

Partners:

- Yann Péréon, CHU Nantes / UMR PAnTher

- Norma Romero & Tereshina Evangelista, Myology Institute, Sorbonne University

- John Vissing, Copenhagen University

Fundings: 

- AFM-Téléthon

- Vaincre les Maladies Lysosomales