Hematopoietic Stem Cell Transplantation is a cost-effective alternative to enzyme replacement therapy in Gaucher...

Area of Science:

• Hematology
• Pediatric Oncology
• Genetic Disorders

Background:

• Gaucher disease (GD) is a rare genetic disorder.
• Enzyme replacement therapy (ERT) for GD is costly and unsustainable in resource-limited settings.
• Allogeneic hematopoietic stem cell transplantation (HSCT) is an alternative treatment for GD.

Purpose of the Study:

• To evaluate the feasibility and outcomes of HSCT in pediatric Gaucher disease.
• To assess the cost-effectiveness of HSCT compared to ERT.
• To explore haplo-HSCT as a treatment option for GD when HLA-identical donors are unavailable.

Main Methods:

• Retrospective analysis of three pediatric GD patients who underwent HSCT between 2004-2019.
• Two patients received haplo-HSCT, one received HLA-identical related-donor transplantation.
• CD34 cell dose, engraftment times, chimerism, and complications were monitored post-HSCT.

Main Results:

• All patients achieved 100% donor chimerism with neutrophil and platelet engraftment between days +14 to +76.
• No acute or significant chronic graft-versus-host disease (GVHD) was observed.
• Major complications included EBV-viremia, pneumonia, delayed engraftment, PRCA, and pericardial effusion.
• At a median of 49 months post-HSCT, all patients showed improved growth, reduced organomegaly, and completed immunization.
• The median HSCT cost was significantly lower than yearly ERT costs.

Conclusions:

• HSCT is a feasible and potentially curative treatment for pediatric Gaucher disease.
• Haplo-HSCT is a viable option for GD patients, even without an HLA-identical donor.
• HSCT presents a more cost-effective and sustainable treatment strategy than ERT in resource-limited settings.