Hematopoietic stem cell transplantation for Gaucher disease

Area of Science:

• Biochemistry
• Genetics
• Medical Research

Background:

• Gaucher disease is a common lysosomal storage disorder due to glucocerebrosidase deficiency.
• Current treatments include enzyme replacement therapy, substrate reduction therapy, and hematopoietic stem cell transplantation (HSCT).
• HSCT is a high-risk procedure with potential long-term benefits for skeletal and neurological symptoms.

Purpose of the Study:

• To evaluate the role of HSCT in Gaucher disease.
• Assess mortality risk, disease modification efficacy, and neurological regression from HSCT.
• Compare HSCT to enzyme replacement therapy, substrate reduction therapy, and symptomatic treatment.

Main Methods:

• Searched Cochrane Cystic Fibrosis and Genetic Disorders Group Inborn Errors of Metabolism Trials Register.
• Included randomized, quasi-randomized, and controlled clinical trials.
• Searched clinical trial registries and company websites up to March 2017.

Main Results:

• Thirty-two trials were identified through searches.
• No trials met the inclusion criteria for the review.
• No relevant trials comparing HSCT to other treatments were found.

Conclusions:

• HSCT has the potential for a permanent cure in Gaucher disease.
• There is a lack of clinical trials evaluating HSCT's safety and efficacy against current therapies.
• The review will not be updated until new trials become available.