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

Objective We present outcome data on hematopoietic stem cell transplantation (HSCT) in children with inborn errors of metabolism (IEM). Methods We retrospectively analyzed data on children up to 18 years of age, diagnosed with IEM, who underwent HSCT between January, 2002 and December, 2020. Results...
Ausführliche Beschreibung

Objective We present outcome data on hematopoietic stem cell transplantation (HSCT) in children with inborn errors of metabolism (IEM). Methods We retrospectively analyzed data on children up to 18 years of age, diagnosed with IEM, who underwent HSCT between January, 2002 and December, 2020. Results 24 children, (mucopolysaccharidosis — 13, Gaucher disease — 4, X-linked adrenoleukodystrophy — 4, metachromatic leukodystrophy — 2, Krabbe disease — 1) were included. Donors were matched family donors in 24%, matched unrelated donors in 34%, and haploidentical fathers in 42% of the transplants, with engraftment in 91% of children. Overall survival was 72% (55–100%) with a median follow-up of 76.5 (10–120) months, and progression-free survival of 68% (MPS-76%, X-ALD — 60%, Gaucher disease — 50%, and 100% in MLD and Krabbe disease). Conclusion HSCT is an available curative option, and early age at HSCT prevents end-organ damage. Ausführliche Beschreibung