Hematopoietic stem cell transplantation in children with inborn errors of metabolism — experience of Polish Pediatric Stem Cell Transplantation Group

Over the years HSCT has become a standard treatment option for selected inborn error of metabolism (IEM), while the transplant program for metabolic diseases in Poland has gradually developed. This study analyzed data from 75 HSCT procedures of 65 pediatric patients with IEM, performed between 2001 and 2022 in pediatric bone marrow transplantation centers of Poznan, Cracow, Wroclaw, and Lublin. The results showed that overall survival (OS) was significantly higher in patients transplanted after 2010 (85.11%. vs 55.56%; p=0.04). A similar trend was observed in the group with standard indications for HSCT (81.63% vs 62.5%), although the difference was not statistically significant (p=0.07). Other assessed parameters, such as the source of transplanted stem cells and the choice of conditioning regime had no statistically significant impact on patients’ OS. Achieved chimerism, engraftment, and causes of treatment failure were also analyzed in this paper. In comparison between Polish transplantation centers and foreign units, the effectiveness of treatment was on a comparable level. While fewer patients with IEM are referred to transplantation in Poland compared to most European countries, this paper aims to inform healthcare professionals about the availability of the HSCT procedure for IEM patients.