Early and late outcomes after cord blood transplantation for pediatric patients with inherited leukodystrophies.

Journal Article (Journal Article;Multicenter Study)

Leukodystrophies (LD) are devastating inherited disorders leading to rapid neurological deterioration and premature death. Hematopoietic stem cell transplantation (HSCT) can halt disease progression for selected LD. Cord blood is a common donor source for transplantation of these patients because it is rapidly available and can be used without full HLA matching. However, precise recommendations allowing care providers to identify patients who benefit from HSCT are lacking. In this study, we define risk factors and describe the early and late outcomes of 169 patients with globoid cell leukodystrophy, X-linked adrenoleukodystrophy, and metachromatic leukodystrophy undergoing cord blood transplantation (CBT) at an European Society for Blood and Marrow Transplantation center or at Duke University Medical Center from 1996 to 2013. Factors associated with higher overall survival (OS) included presymptomatic status (77% vs 49%; P = .006), well-matched (≤1 HLA mismatch) CB units (71% vs 54%; P = .009), and performance status (PS) of >80 vs <60 or 60 to 80 (69% vs 32% and 55%, respectively; P = .003). For patients with PS≤60 (n = 20) or 60 to 80 (n = 24) pre-CBT, only 4 (9%) showed improvement. Of the survivors with PS >80 pre-CBT, 50% remained stable, 20% declined to 60 to 80, and 30% to <60. Overall, an encouraging OS was found for LD patients after CBT, especially for those who are presymptomatic before CBT and received adequately dosed grafts. Early identification and fast referral to a specialized center may lead to earlier treatment and, subsequently, to improved outcomes.

Full Text

Duke Authors

Cited Authors

  • van den Broek, BTA; Page, K; Paviglianiti, A; Hol, J; Allewelt, H; Volt, F; Michel, G; Diaz, MA; Bordon, V; O'Brien, T; Shaw, PJ; Kenzey, C; Al-Seraihy, A; van Hasselt, PM; Gennery, AR; Gluckman, E; Rocha, V; Ruggeri, A; Kurtzberg, J; Boelens, JJ

Published Date

  • January 9, 2018

Published In

  • Blood Adv

Volume / Issue

  • 2 / 1

Start / End Page

  • 49 - 60

PubMed ID

  • 29344584

Pubmed Central ID

  • PMC5761624

Electronic International Standard Serial Number (EISSN)

  • 2473-9537

Digital Object Identifier (DOI)

  • 10.1182/bloodadvances.2017010645


  • eng

Conference Location

  • United States