Hematopoietic stem cell transplantation for Gaucher disease

Area of Science:

• Genetics and Genetic Disorders
• Hematology
• Metabolic Disorders

Background:

• Gaucher disease is a common lysosomal storage disorder due to glucocerebrosidase deficiency.
• Current treatments include enzyme replacement, substrate reduction, and stem cell transplantation.
• Stem cell transplantation carries high risks 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.
• Assess HSCT's mortality risk, disease modification efficacy, and impact on neurological manifestations.
• Compare HSCT with existing therapies like enzyme replacement and substrate reduction.

Main Methods:

• Searched multiple databases including the Cochrane Cystic Fibrosis and Genetic Disorders Group Trials Register.
• Included randomized, quasi-randomized, and controlled clinical trials.
• Searched for trials comparing HSCT to enzyme replacement, substrate reduction, symptomatic treatment, or no treatment.

Main Results:

• Eight trials were initially identified.
• None of the identified trials met the inclusion criteria for the review.
• No relevant clinical trials were found to assess HSCT in Gaucher disease.

Conclusions:

• Hematopoietic stem cell transplantation (HSCT) holds potential as a curative treatment for Gaucher disease.
• There is a lack of clinical trials evaluating the safety and efficacy of HSCT compared to current therapies.
• Further research is essential to determine the definitive role of HSCT in managing Gaucher disease.