Hematopoietic Stem Cell Transplantation for Children With Inborn Errors of Metabolism: Single Center Experience Over

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Venkateswaran Vellaichamy Swaminathan1, Satishkumar Meena2, Harika Varla2

  • 1Department of Pediatric Hematology, Oncology, Blood and Marrow Transplantation, Apollo Hospitals, Chennai 600 035, Tamil Nadu. Correspondence to: Dr Venkateswaran Vellaichamy Swaminathan, Pediatric Hematology, Oncology, Blood and Marrow Transplantation, Apollo Hospitals, 320, Padma Complex, Anna Salai, Teynampet, Chennai 600 035, Tamil Nadu. vsv.mezos97@gmail.com.

Indian Pediatrics
|June 28, 2022
PubMed

Insights

Hematopoietic stem cell transplantation (HSCT) offers a curative option for children with inborn errors of metabolism (IEM). Early HSCT is crucial for preventing end-organ damage and improving survival rates in pediatric patients.

Area of Science:

  • Pediatric Hematology
  • Metabolic Disorders
  • Transplantation Medicine

Background:

  • Inborn errors of metabolism (IEM) are a group of genetic disorders affecting metabolic pathways.
  • Hematopoietic stem cell transplantation (HSCT) is a potential curative treatment for certain IEMs.
  • Data on HSCT outcomes in pediatric IEM patients are essential for treatment planning.

Purpose of the Study:

  • To present outcome data for hematopoietic stem cell transplantation (HSCT) in children diagnosed with inborn errors of metabolism (IEM).
  • To evaluate the efficacy and survival rates of HSCT in this pediatric population.

Main Methods:

  • Retrospective analysis of pediatric patients (up to 18 years) with IEM who underwent HSCT.
  • Data collected between January 2002 and December 2020.
  • Inclusion of various IEMs including mucopolysaccharidosis, Gaucher disease, X-linked adrenoleukodystrophy, metachromatic leukodystrophy, and Krabbe disease.

Main Results:

  • 24 children with IEM underwent HSCT.
  • Engraftment was achieved in 91% of patients.
  • Overall survival was 72%, with progression-free survival at 68%.
  • Specific survival rates varied by IEM type, with 100% progression-free survival for metachromatic leukodystrophy and Krabbe disease.

Conclusions:

  • Hematopoietic stem cell transplantation (HSCT) is a viable curative treatment for children with inborn errors of metabolism (IEM).
  • Performing HSCT at an early age is critical to prevent irreversible end-organ damage.
  • The study highlights the importance of timely HSCT for improving long-term outcomes in pediatric IEM patients.
Abstract

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