Hematopoietic stem cell transplantation in pediatric patients with type VI mucopolysaccharidosis

Background It is uncertain whether hematopoietic stem cell transplantation (HSCT), versus standard enzyme replacement therapy (ERT), is effective for type VI mucopolysaccharidosis (MPS VI). Purpose New related advances in HSCT prompted an examination of the transplant procedures performed in a recen...

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Main Authors: Vedat Uygun, Koray Yalçın, Hayriye Daloğlu, Seda Öztürkmen, Suna Çelen, Suleimen Zhumatayev, Gülsün Karasu, Akif Yeşilipek
Format: Article
Language:English
Published: The Korean Pediatric Society 2025-08-01
Series:Clinical and Experimental Pediatrics
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Online Access:http://www.e-cep.org/upload/pdf/cep-2024-02033.pdf
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Summary:Background It is uncertain whether hematopoietic stem cell transplantation (HSCT), versus standard enzyme replacement therapy (ERT), is effective for type VI mucopolysaccharidosis (MPS VI). Purpose New related advances in HSCT prompted an examination of the transplant procedures performed in a recent cohort. Methods This single-center retrospective study reviewed the medical records of 17 pediatric patients with MPS VI who underwent allogeneic HSCT in 2021–2023. All conditioning regimens were myeloablative. Engraftment days, complications, and survival data were recorded. As follow-up was short, we recorded only 6-minute walk test distance before versus after HSCT. Results The patients underwent transplantation at a median of 6-year postdiagnosis. All were engrafted and had a full or mixed chimerism. Enzyme levels were within normal ranges. Walking tests of all evaluable patients improved at a median 9-month follow-up. Conclusion HSCT aims to improve the disease and provides a permanent solution at the enzyme level, eliminating ERT. Our study showed that HSCT, a less expensive and permanent treatment option, should be offered to patients with MPS VI.
ISSN:2713-4148