Hematopoietic stem cell transplantation for Gaucher disease

Abstract

Background: Gaucher disease is the most common lysosomal storage disorder caused by a deficiency of the enzyme glucocerebrosidase. Current treatment of the disease involves a choice among enzyme replacement therapy, substrate reduction therapy and stem cell transplantation. Stem cell transplantation is a high risk procedure with possible long-term benefits in the regression of skeletal and neurological changes in people with Gaucher disease. Objectives: To determine the role of hematopoietic stem cell transplantation in people with Gaucher disease in relation to: mortality risk associated with the procedure; efficacy in modifying the course of the disease; and arrest or regression of neurological manifestations in neuropathic forms (Types 2 and 3). Search methods: We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group Inborn Errors of Metabolism Trials Register which comprises of references identified from comprehensive electronic database searches and handsearches of relevant journals and abstract books of conference proceedings. Date of the most recent search of the Group's Haemoglobinopathies Trials Register: 26 March 2012. We also searched the websites www.clinicaltrials.gov and www.genzymeclinicalresearch.com. Date of most recent search of these sites: 16 February 2012. Selection criteria: All randomised, quasi-randomised and controlled clinical trials comparing stem cell transplantation with enzyme replacement therapy, substrate reduction therapy, symptomatic treatment or no treatment in people with Gaucher disease of all ages. Data collection and analysis: We independently assessed trials for inclusion, however, no relevant trials were identified. Main results: Twelve trials were identified by the searches, however, these were not suitable for inclusion in the review. Authors' conclusions: Stem cell transplantation is a form of treatment that offers the potential of permanent cure. However, there are no clinical trials that have assessed the safety and efficacy of stem cell transplantation in comparison to other conservative measures (enzyme replacement therapy, substrate reduction therapy) now in use. There are no trials included in the review and we have not identified any relevant trials up to March 2012. We therefore do not plan to update this review until new trials are published.