title: [Enzyme replacement therapy for lysosomal storage disorders].
abstract: In the last years, much progress has been achieved in the treatment of lysosomal storage disorders. Until recently only symptomatic treatment was available for the affected patients. Progressively enzyme replacement treatments have been developed for several diseases, namely Gaucher disease, Fabry disease, mucopolysaccharidoses type I, II and VI and Pompe disease. In this review we will summarize the efficacy and safety of these treatments and describe new therapeutic trials for other lysosomal storage disorders or perspectives in the use of currently available treatments.
authors.affiliation: Centre de référence des maladies héréditaires du métabolisme de l'enfant et de l'adulte (MaMEA), hôpital Necker-Enfants Malades, 149, rue de Sèvres, 75743 Paris cedex 15, France. vassili.valaya@nck.aphp.fr
authors.forename: V
authors.initials: V
authors.lastname: Valayannopoulos
authors.forename: A
authors.initials: A
authors.lastname: Brassier
authors.forename: A
authors.initials: A
authors.lastname: Chabli
authors.forename: C
authors.initials: C
authors.lastname: Caillaud
authors.forename: M
authors.initials: M
authors.lastname: Lemoine
authors.forename: T
authors.initials: T
authors.lastname: Odent
authors.forename: J B
authors.initials: JB
authors.lastname: Arnoux
authors.forename: P
authors.initials: P
authors.lastname: de Lonlay
mesh_terms: D002986:Clinical Trials as Topic; D056947:Enzyme Replacement Therapy / Q000379:methods; D057487:Enzyme Therapy; D004798:Enzymes / Q000235:genetics; D000795:Fabry Disease / Q000188:drug therapy; D005776:Gaucher Disease / Q000188:drug therapy; D006009:Glycogen Storage Disease Type II / Q000188:drug therapy; D006801:Humans; D016464:Lysosomal Storage Diseases / Q000175:diagnosis / Q000188:drug therapy* / Q000201:enzymology; D009083:Mucopolysaccharidoses / Q000188:drug therapy; D016896:Treatment Outcome
chemical_list: D004798:Enzymes