Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy

Joerg P. Halter, W. Michael, M. Schüpbach, Hanna Mandel, Carlo Casali, Kim Orchard, Matthew Collin, David Valcarcel, Attilio Rovelli, Massimiliano Filosto, Maria T. Dotti, Giuseppe Marotta, Guillem Pintos, Pere Barba, Anna Accarino, Christelle Ferra, Isabel Illa, Yves Beguin, Jaap A. Bakker, Jaap J. BoelensIrenaeus F M De Coo, Keith Fay, Carolyn M. Sue, David Nachbaur, Heinz Zoller, Claudia Sobreira, Belinda Pinto Simoes, Simon R. Hammans, David Savage, Ramon Martí, Patrick F. Chinnery, Ronit Elhasid, Alois Gratwohl, Michio Hirano, G. Barros Navarro, J. F. Benoist, J. Bierau, A. Bucalossi, M. A. Carluccio, J. Coll-Canti, M. S. Cotelli, T. Diesch, R. Di Fabio, M. A. Donati, J. H. Garvin, K. Hill, L. Kappeler, T. Ku Hne, M. C. Lara, M. Lenoci, G. Lucchini, W. Marques, H. P. Mattle, A. Meyer, R. Parini, J. R. Passweg, F. Pieroni, A. Rodriguez-Palmero, F. Santus, M. Scarpelli, P. Schlesser, F. Sicurelli, M. Stern, A. B. Stracieri, P. Tonin, J. Torres-Torronteras, J. C. Voltarelli, I. Zaidman

Research output: Contribution to journalArticlepeer-review


Haematopoietic stem cell transplantation has been proposed as treatment for mitochondrial neurogastrointestinal encephalomyopathy, a rare fatal autosomal recessive disease due to TYMP mutations that result in thymidine phosphorylase deficiency. We conducted a retrospective analysis of all known patients suffering from mitochondrial neurogastrointestinal encephalomyopathy who underwent allogeneic haematopoietic stem cell transplantation between 2005 and 2011. Twenty-four patients, 11 males and 13 females, median age 25 years (range 10-41 years) treated with haematopoietic stem cell transplantation from related (n = 9) or unrelated donors (n = 15) in 15 institutions worldwide were analysed for outcome and its associated factors. Overall, 9 of 24 patients (37.5%) were alive at last follow-up with a median follow-up of these surviving patients of 1430 days. Deaths were attributed to transplant in nine (including two after a second transplant due to graft failure), and to mitochondrial neurogastrointestinal encephalomyopathy in six patients. Thymidine phosphorylase activity rose from undetectable to normal levels (median 697 nmol/h/mg protein, range 262-1285) in all survivors. Seven patients (29%) who were engrafted and living more than 2 years after transplantation, showed improvement of body mass index, gastrointestinal manifestations, and peripheral neuropathy. Univariate statistical analysis demonstrated that survival was associated with two defined pre-transplant characteristics: human leukocyte antigen match (10/10 versus

Original languageEnglish
Pages (from-to)2847-2858
Number of pages12
Issue number10
Publication statusPublished - Oct 1 2015


  • allogeneic haematopoietic stem cell transplantation
  • mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)
  • outcome
  • risk factors
  • thymidine phosphorylase

ASJC Scopus subject areas

  • Clinical Neurology
  • Medicine(all)


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