title: [Treatment of Fabry disease: Successes, failures, and expectations].
abstract: Fabry disease, an X-linked lysosomal storage disease, results from α-galactosidase A deficiency. Two different recombinant enzyme treatments (algalsidase alpha agalsidase beta) have been available since 2001 to treat a disease that affects not only men but also women. Enzyme replacement therapy promotes cell clearance of susbtrate, and improves some clinical parameters (heart, kidney damage, pain, quality of life). However, there is no proven efficacy to date on central nervous system lesions, on cardiac morbidity and mortality, nor on renal damage beyond a certain stage (proteinuria>1g/day and/or estimated glomerular filtration rate<60mL/min/1.73m(2)). In this review, we discuss the potential benefit of an early intervention, the vascular protective measures to be associated with enzyme therapy and their rationale, and some alternative treatments under development, such as chaperones and substrate molecules inhibitors.
authors.affiliation: Service de médecine interne-rhumatologie, hôpital de la Croix-Saint-Simon, 125, rue d'Avron, 75020 Paris, France; Centre de référence maladies lysosomales (CRML, site Diaconesses-Croix Saint Simon), 125, rue d'Avron, 75020 Paris, France; UMRS 974, équipe muscle inflammatoire/thérapies innovantes ciblées, Inserm, Groupe hospitalier Pitié-salpêtrière, Université Pierre-et-Marie-Curie, 47-83 boulevard de l'Hôpital, 75013 Paris, France. Electronic address: olidove@hopital-dcss.org.
authors.forename: Olivier
authors.initials: O
authors.lastname: Lidove
authors.affiliation: Service des maladies moléculaires, centre hospitalier universitaire Vaudois (CHUV), rue du Bugnon 21, CH-1011 Lausanne, Suisse.
authors.forename: Frédéric
authors.initials: F
authors.lastname: Barbey
authors.affiliation: Service de néphrologie, hôpital Necker Enfants malades, 149, rue de Sèvres, 75015 Paris, France; Faculté de médecine, université Paris Descartes, 149, rue de Sèvres, 75015 Paris, France; Inserm U1151, 149, rue de Sèvres, 75015 Paris, France.
authors.forename: Dominique
authors.initials: D
authors.lastname: Joly
mesh_terms: D056947:Enzyme Replacement Therapy / Q000379:methods; D000795:Fabry Disease / Q000188:drug therapy*; D005260:Female; D006801:Humans; D007527:Isoenzymes / Q000008:administration & dosage*; D008297:Male; D011788:Quality of Life; D016896:Treatment Outcome; D000519:alpha-Galactosidase / Q000008:administration & dosage*
chemical_list: D007527:Isoenzymes; D000519:alpha-Galactosidase; C459420:agalsidase beta
keywords: Agalsidase; Clinical efficacy; Efficacité clinique; Enzyme therapy; Fabry disease; Maladie de Fabry; Traitement enzymatique