• van den BroekBrigitte T ABTA0000-0003-3208-0685Blood and Marrow Transplantation Program.Laboratory for Translational Immunology, and.Sylvia Toth Center for Multidisciplinary Follow Up After Hematopoietic Cell Transplantation, UMC Utrecht, Utrecht, The Net, Kristin Page, Annalisa Paviglianiti, Janna Hol, Heather Allewelt, Fernanda Volt, Gerard Michel, Miguel Angel Diaz, Victoria Bordon, Tracey O'Brien, Peter J Shaw, Chantal Kenzey, Amal Al-Seraihy, Peter M van Hasselt, Andrew R Gennery, Eliane Gluckman, Vanderson Rocha, Annalisa Ruggeri, Joanne Kurtzberg, and Jaap Jan Boelens.
• Blood and Marrow Transplantation Program.
• Blood Adv. 2018 Jan 9; 2 (1): 49-60.

AbstractLeukodystrophies (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.

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