title: New insights into therapeutic options for Pompe disease.
abstract: Glycogen storage disease type II or Pompe disease (GSD II, MIM 232300) is a rare inherited metabolic myopathy caused by a deficiency of lysosomal acid α-glucosidase or acid maltase (GAA; EC 3.2.1.20), resulting in a massive lysosomal glycogen accumulation in cardiac and skeletal muscles. Affected individuals exhibit either severe hypotonia associated with hypertrophic cardiomyopathy (infantile forms) or progressive muscle weakness (late-onset forms). Even if enzyme replacement therapy has recently become a standard treatment, it suffers from several limitations. This review will present the main results of enzyme replacement therapy and the recent findings concerning alternative treatments for Pompe disease, such as gene therapy, enzyme enhancement therapy, and substrate reduction therapy.
authors: Université de Bordeaux, Biothérapies des Maladies Génétiques et Cancers, U1035, F-33000 Bordeaux, France. Emmanuel.Richard@u-bordeaux2.fr
authors: Emmanuel
authors: E
authors: Richard
authors: Gaëlle
authors: G
authors: Douillard-Guilloux
authors: Catherine
authors: C
authors: Caillaud
mesh_terms: D000818:Animals; D004337:Drug Carriers; D020536:Enzyme Activators / Q000627:therapeutic use; D056947:Enzyme Replacement Therapy / Q000009:adverse effects / Q000379:methods; D015316:Genetic Therapy; D006009:Glycogen Storage Disease Type II / Q000201:enzymology / Q000235:genetics / Q000628:therapy*; D006801:Humans; D007108:Immune Tolerance; D008099:Liver / Q000187:drug effects / Q000503:physiopathology; D009132:Muscles / Q000187:drug effects / Q000503:physiopathology; D000520:alpha-Glucosidases / Q000235:genetics / Q000276:immunology / Q000627:therapeutic use
chemical_list: D004337:Drug Carriers; D020536:Enzyme Activators; C509951:GAA protein, human; D000520:alpha-Glucosidases