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 Trials Register: 13 April 2010.
We also searched the websites www.clinicaltrials.gov and www.genzymeclinicalresearch.com. Date of most recent search of these sites: 29 April 2010.
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.
PICO
Plain language summary
Stem cell transplantation for treating Gaucher disease
Gaucher disease is an inherited disorder caused by a deficiency of the enzyme glucocerebrosidase. This leads to storage of complex lipids in some types of blood cells. Due to these abnormal cells people with Gaucher disease will have pain, fatigue, anemia, jaundice and bone damage. Some forms of Gaucher disease may also cause neurological disorder. The treatment of Gaucher disease at present is mainly by enzyme replacement therapy which is expensive. In some severe cases stem cell transplantation is used to treat people with Gaucher disease. This is a high risk procedure some times leading to death of the individual. We have not found any trials to show the effectiveness and the risks of the procedure in people with Gaucher disease.
