De la thérapie enzymatique à la thérapie génique : une avancée majeure dans la prise en charge de la maladie de Pompe

Details

Supervisors

Veiga da Cunha, Maria

Faculty

Faculté de pharmacie et des sciences biomédicales

Degree label

Master [120] en sciences pharmaceutiques, à finalité spécialisée

Abstract

enPompe disease is a rare,autosomal recessive genetic disorder caused by deficiency of the enzyme acid alpha glucosidase. This deficiency leads to glycogen accumulation in cells,mainly in muscle,causing progressive muscle weakness and varing degrees of repriratory distress. For several years, the management of Pompe disease has mainly relied on enzyme remplacement therapy,which has improved patient survival and quality of life.however, despite these advances, this treatment has some limitations, including the need for regular administration and variable effectivenss among patients. The aim of this thesis is to review the treatments currently available for Pompe disease, particularly the different enzyme replacement therapies approved for clinical use.its also presents new therapeutic strategies under development,with a particular focus on gene therapy, which represents a promising alternative. Data from recent clinical trials show encouraging results, with improvements in certain clinical and functional parameters. However,these innovative approaches are still in the evaluation phase and require long-term studies to confirm their safety and efficacy