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Hematopoietic stem cell transplantation in inborn errors of metabolism—a retrospective analysis on behalf of the pediatric disease working party from the Brazilian Society of Bone Marrow Transplantation and Cellular Therapy

Bone Marrow Transplantation volume 60, pages 474–481 (2025)Cite this article

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Abstract

Hematopoietic stem cell transplantation (HSCT) is an established treatment for selected patients with inborn errors of metabolism. In this first report from the PDWP-SBTMO, we included 105 patients transplanted between 1988 and 2021 across six Brazilian HSCT centers. The most prevalent diseases were X-linked adrenoleukodystrophy (n = 61) and mucopolysaccharidosis (type I n = 20; type II n = 10), with a median age at HSCT of 8.7 years and 2.1 years, respectively. Most conditioning regimens were myeloablative and busulfan-based. With a median follow-up of 6.7 years, the 5-years overall survival (OS) was 75% (95% CI, 0.65–0.82) with a superior 5-years OS for those transplanted after 2010 (87% vs. 63%, p = 0.01). Higher risk of death was associated with the use of haploidentical donor (HR8.86, p 0.021), unrelated cord blood (HR 8.76, p 0.005), unrelated donor (HR 5.91, p 0.02), and for HSCT performed before 2010 (HR 4.16, p = 0.0015). The CI of acute GVHD was 24.8%, while chronic GVHD was 9.5%. Major causes of death were infections (n = 8), GVHD (n = 6), and neurologic progression (n = 3). Despite improvements in transplant outcomes since 2011, challenges persist, emphasizing the need for early diagnosis, timely transplantation and expanding HSCT centers with expertise in the field.

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Data availability

The data supporting the findings of this study are available from the corresponding author (adrianamrpediatra@gmail.com) upon reasonable request.

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Acknowledgements

The authors thank all the nurses, physicians, and multidisciplinary staff of the participating centers. The authors also thank all geneticists and neurologists that worked together with the transplant centers for the best treatment to each patient.

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Authors and Affiliations

  1. Instituto de Pesquisa Pelé Pequeno Príncipe/Faculdades Pequeno Príncipe, Curitiba, Brazil

    Adriana Mello Rodrigues, Gisele Loth, Polliany Pelegrina & Carmem Bonfim

  2. Pediatric Blood and Marrow Transplantation Unit, Hospital Pequeno Príncipe, Curitiba, Brazil

    Adriana Mello Rodrigues, Gisele Loth, Polliany Pelegrina, Cilmara Kuwahara, Fernanda Benini, Carolina Almeida Peixoto, Juliana Bach & Carmem Bonfim

  3. Pediatric Blood and Marrow Transplantation Unit, Complexo Hospital de Clínicas, Universidade Federal do Paraná, Curitiba, Brazil

    Adriana Mello Rodrigues, Samantha Nichele, Joanna Trennepohl, Lara Maria Miranda de Gouvêa, Gisele Loth, Adriana Koliski, Rebeca Toasa Gomes, Ricardo Pasquini & Carmem Bonfim

  4. Pediatric Blood and Marrow Transplantation Unit, ITACI - Instituto da Criança - Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, Sao Paulo, Brazil

    Juliana Folloni Fernandes, Alessandra Araújo Gomes & Ana Beatriz Bechara Mafra

  5. Bone Marrow Transplant Unit, Hospital Israelita Albert Einstein, Sao Paulo, Brazil

    Juliana Folloni Fernandes, Júlia Lopes Garcia, Gabriele Zamperlini Netto & Nelson Hamerschlak

  6. Bone Marrow Transplant Unit, Hospital 9 de Julho, Sao Paulo, Brazil

    Juliana Folloni Fernandes, Ricardo Pasquini & Carmem Bonfim

  7. Bone Marrow Transplant Unit, Hospital das Clínicas de Porto Alegre da Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil

    Lauro Gregianin, Fernanda Fetter Scherer, Cláudio Galvão de Castro Junior & Liane Esteves Daudt

  8. Pediatric Blood and Marrow Transplantation Unit, Hospital Nossa Senhora das Graças, Curitiba, Brazil

    Samantha Nichele, Joanna Trennepohl, Rafaela Muratori & Lara Maria Miranda de Gouvêa

  9. Histocompatibility Laboratory, Complexo Hospital de Clínicas, Universidade Federal do Paraná, Curitiba, Brazil

    Alberto Cardoso M. Lima

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  1. Adriana Mello Rodrigues
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Contributions

AMR designed the study, enrolled patients, reviewed and analyzed data, and wrote the paper. JFF and LED designed the study, enrolled patients, and reviewed the paper. ACML performed the statistical analyses. CK and SN assisted with data collection, discussion, and manuscript review. GL and PP supported data collection, methodology, and discussion. JT, CAP, and JB contributed to data interpretation and manuscript review. RM contributed to data collection, statistical analysis, and result interpretation. LG, AK, and RTG reviewed manuscript. LMMG, FB, JLG, GZN, and AAG collected data. ABBM, FFS, and CGCJ contributed to data collection and reviewed the paper. NH and RP guided the study and reviewed the manuscript. CB offered guidance at all stages, coordinated data collection, and reviewed the manuscript. All authors discussed the results and commented on the manuscript.

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Correspondence to Adriana Mello Rodrigues.

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The authors declare no competing interests.

Ethics approval statement and consent to participate

The Brazilian Ethical Authority approved the study with identification number CAAE 44805321.5.0000.0097 (according to plataformabrasil.saude.gov.br). Written informed consent was obtained from all study subjects. This study has been performed in accordance with the Declaration of Helsinki.

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Rodrigues, A.M., Fernandes, J.F., Gregianin, L. et al. Hematopoietic stem cell transplantation in inborn errors of metabolism—a retrospective analysis on behalf of the pediatric disease working party from the Brazilian Society of Bone Marrow Transplantation and Cellular Therapy. Bone Marrow Transplant 60, 474–481 (2025). https://doi.org/10.1038/s41409-025-02512-6

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