Effects of enzyme replacement therapy in Fabry disease--a comprehensive review of the medical literature.

Abstract

Enzyme replacement therapy with α-galactosidase A has been used to treat Fabry disease since 2001. This article reviews the published evidence for clinical efficacy of the two available enzyme preparations. We focused on heart, kidney, and nervous system manifestations, which impact both quality of life and overall prognosis. A literature search was undertaken to identify prospective open or randomized controlled trials of enzyme replacement therapy in patients with Fabry disease published since 2001. To date, no definitive conclusion can be drawn from studies that have directly compared therapeutic responses between the two commercially available enzyme preparations. Significant clinical benefits of enzyme replacement therapy have been demonstrated, mainly in patients at an early phase of the disease, with beneficial effects on heart, kidneys, pain, and quality of life in treated patients. Incidence of antibodies against agalsidase alfa and agalsidase beta observed during major clinical studies suggests a greater antigenic response to agalsidase beta. Further studies are required to confirm the long-term clinical benefits of enzyme replacement therapy. More studies with female patients are needed as are investigations of early initiation of enzyme replacement therapy to determine the optimal time to start treatment to prevent irreversible organ damage. The value of adjunctive and supportive therapies should also be rigorously analyzed.

• Authors: Olivier Lidove, Michael L West, Guillem Pintos-Morell, Ricardo Reisin, Kathy Nicholls, Luis E Figuera, Rossella Parini, Luiz R Carvalho, Christoph Kampmann, Gregory M Pastores, Atul Mehta
• Journal: Genetics in medicine : official journal of the American College of Medical Genetics (Genet Med) Vol. 12 Issue 11 Pg. 668-79 (Nov 2010) ISSN: 1530-0366 [Electronic] United States
• PMID: 20962662 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Review)

Chemical References

• Immunoglobulin G
• Isoenzymes
• Recombinant Proteins
• agalsidase alfa
• alpha-Galactosidase
• agalsidase beta

Topics

• Adult
• Child
• Enzyme Replacement Therapy
• Fabry Disease (complications, drug therapy, physiopathology)
• Female
• Gastrointestinal Diseases (etiology, physiopathology)
• Humans
• Immunoglobulin G (immunology)
• Isoenzymes (immunology, therapeutic use)
• Kidney (physiopathology)
• Male
• Middle Aged
• Nervous System Diseases (etiology, physiopathology)
• Quality of Life
• Randomized Controlled Trials as Topic
• Recombinant Proteins
• Treatment Outcome
• alpha-Galactosidase (immunology, therapeutic use)