title: Clinical results of enzyme replacement therapy in Fabry disease: a comprehensive review of literature.
abstract: Enzyme replacement therapy (ERT) has been used to treat Fabry disease - a progressive lysosomal storage disorder - since 2001. Two preparations of the enzyme alpha-galactosidase A are available in Europe: agalsidase alpha, produced in a human cell line, and agalsidase beta, produced in Chinese hamster ovary cells. To review critically the published evidence for the clinical efficacy of these two enzyme preparations. A systematic literature search was undertaken to identify open or randomised controlled trials published on Fabry disease since 2001. Eleven trials fulfilled the criteria for inclusion in this review, of a total of 586 references on Fabry disease. To date, no direct comparisons exists between the two available enzyme preparations. Significant clinical benefits compared with placebo, however, have been demonstrated with ERT, with positive effects on the heart, kidneys, nervous system and quality of life. The quality of most of these publications was less than optimal. Further prospective studies are required to confirm the long-term clinical benefits of ERT. More studies are also needed on the effects of ERT in women and on the use of ERT early in the course of Fabry disease, to prevent organ damage. Large national and international outcomes databases will also be invaluable in evaluating treatment effects and safety.
authors.affiliation: Department of Internal Medicine, Faculté de Médecine Xavier Bichat, Bichat Hospital, Université Paris 7, Paris, France. olivier.lidove@bch.ap-hop-paris.fr
authors.forename: O
authors.initials: O
authors.lastname: Lidove
authors.forename: D
authors.initials: D
authors.lastname: Joly
authors.forename: F
authors.initials: F
authors.lastname: Barbey
authors.forename: S
authors.initials: S
authors.lastname: Bekri
authors.forename: J-F
authors.initials: JF
authors.lastname: Alexandra
authors.forename: V
authors.initials: V
authors.lastname: Peigne
authors.forename: R
authors.initials: R
authors.lastname: Jaussaud
authors.forename: T
authors.initials: T
authors.lastname: Papo
mesh_terms: D000328:Adult; D000368:Aged; D000795:Fabry Disease / Q000188:drug therapy*; D005260:Female; D006801:Humans; D007527:Isoenzymes / Q000627:therapeutic use*; D008297:Male; D008875:Middle Aged; D011379:Prognosis; D011788:Quality of Life; D016896:Treatment Outcome; D000519:alpha-Galactosidase / Q000627:therapeutic use*
chemical_list: D007527:Isoenzymes; D000519:alpha-Galactosidase; C459420:agalsidase beta