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Original Article
Hematopoietic Stem Cell Transplantation is a cost-effective alternative to enzyme replacement therapy in Gaucher Disease
Fouzia N Aboobacker1, Uday P Kulkarni1, Anu Korula1, Anup J Devasia1, Sushil Selvarajan1, Sharon Lionel1, Eunice Sindhuvi1, Alok Srivastava1, Biju George1, Aby Abraham1

1Department of Hematology, Christian Medical College, Vellore, Tamil Nadu.

Keywords
Hematopoietic stem cell Transplantation (HSCT), Gaucher disease (GD), enzyme replacement therapy (ERT)
Submitted:September 14, 2021
Accepted:January 9, 2022
Published online:May 20, 2022

Abstract

Allogeneic hematopoietic stem cell transplantation (HSCT) is a feasible treatment option for Gaucher disease (GD). Among 60 patients diagnosed with GD over 15 years (2004-2019), three children who underwent HSCT (January-November 2017) were analyzed. Two boys (cases 1 and 2) and one girl (case 3) received HSCT at 3, 7, and 10 years of age, respectively. Cases 1 and 3 received haplo-HSCT, while case 2 received HLA-identical related-donor transplantation. The CD 34 cell dose was 5-10×106/kg. Neutrophil and platelet engraftment were between days +14 to +21 and days +15 to +76. Post-HSCT chimerism was a 100% donor. None of the patients developed acute or significant chronic graft versus host disease (GVHD). All patients had febrile episodes with negative blood cultures. Major post-HSCT complications included EBV-viremia and recurrent lobar pneumonia in case 1, delayed engraftment and pure red cell aplasia (PRCA) in case 2, and pericardial effusion with tamponade in case 3. At a median of 49 months post-HSCT, all patients were stable with improved growth, absent organomegaly, and had completed immunization. The median cost of treatment was $23,038.96, which is 10.7%-13% of the yearly enzyme replacement therapy (ERT) cost. In a resource-limited setting like India, ERT is a financial burden and not a sustainable option. With improved treatment outcomes, haplo-HSCT is now a possible option for almost every patient, even if no HLA-identical donor is identified.

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Online ISSN:2432-7026