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<p>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 (<i>n</i> = 61) and mucopolysaccharidosis (type I <i>n</i> = 20; type II <i>n</i> = 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&#xa0;(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 (<i>n</i> = 8), GVHD (<i>n</i> = 6), and neurologic progression (<i>n</i> = 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.</p>

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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

  • 期刊论文

  • 发表日期：

    2025年1月26日

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  • Adriana Mello Rodrigues,
  • Juliana Folloni Fernandes,
  • Lauro Gregianin,
  • Samantha Nichele,
  • Joanna Trennepohl,
  • Rafaela Muratori,
  • Lara Maria Miranda de Gouvêa,
  • Gisele Loth,
  • Polliany Pelegrina,
  • Cilmara Kuwahara,
  • Fernanda Benini,
  • Carolina Almeida Peixoto,
  • Juliana Bach,
  • Adriana Koliski,
  • Rebeca Toasa Gomes,
  • Júlia Lopes Garcia,
  • Gabriele Zamperlini Netto,
  • Alessandra Araújo Gomes,
  • Ana Beatriz Bechara Mafra,
  • Fernanda Fetter Scherer,
  • Cláudio Galvão de Castro Junior,
  • Alberto Cardoso M. Lima,
  • Nelson Hamerschlak,
  • Ricardo Pasquini,
  • Liane Esteves Daudt,
  • Carmem Bonfim

摘要

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.