Hematopoietic stem cell transplantation for Gaucher disease

Area of Science:

• Medical Genetics
• Hematology
• Lysosomal Storage Disorders

Background:

• Gaucher disease is a common lysosomal storage disorder due to glucocerebrosidase deficiency.
• Current treatments include enzyme replacement therapy, substrate reduction therapy, and stem cell transplantation.
• Stem cell transplantation is high-risk but may offer long-term benefits for skeletal and neurological symptoms.

Purpose of the Study:

• To evaluate the role of hematopoietic stem cell transplantation (HSCT) in Gaucher disease.
• Assessed HSCT's mortality risk, disease modification efficacy, and impact on neurological manifestations.
• Focused on neuropathic forms (Types 2 and 3) of Gaucher disease.

Main Methods:

• Searched the 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 (clinicaltrials.gov, genzymeclinicalresearch.com).

Main Results:

• Twelve trials were identified through comprehensive searches.
• None of the identified trials met the inclusion criteria for the review.
• No suitable trials were found for data collection and analysis.

Conclusions:

• Stem cell transplantation (SCT) presents potential for a permanent cure for Gaucher disease.
• No clinical trials have evaluated the safety and efficacy of SCT against current conservative treatments.
• Further research is needed to compare SCT with enzyme replacement and substrate reduction therapies.