Blood Journal
Leading the way in experimental and clinical research in hematology

Outcomes of transplantation using various hematopoietic cell sources in children with Hurler's syndrome after myeloablative conditioning

  1. Jaap Jan Boelens1,*,
  2. Mieke Aldenhoven1,
  3. Duncan Purtill2,
  4. Annalisa Ruggeri2,
  5. Todd DeFor3,
  6. Robert Wynn4,
  7. Ed Wraith5,
  8. Marina Cavazzana-Calvo6,
  9. Attilio Rovelli7,
  10. Alain Fischer8,
  11. Jakub Tolar3,
  12. Vinod K. Prasad9,
  13. Maria Escolar10,
  14. Eliane Gluckman2,
  15. Anne O'Meara11,
  16. Paul J. Orchard3,
  17. Paul Veys12,
  18. Mary Eapen13,
  19. Joanne Kurtzberg9, and
  20. Vanderson Rocha14
  1. 1 Pediatric Blood and Marrow Transplantation Program, University Medical Center Utrecht, Utrecht, Netherlands;
  2. 2 Department of Hematology/BMT, Eurocord/Hopital Saint Louis, Paris, France;
  3. 3 Program in Blood and Marrow Transplantation, University of Minnesota, Minneapolis, MN, United States;
  4. 4 Department of Hematology/BMT, Royal Manchester Children's Hospital, Manchester, Netherlands;
  5. 5 Manchester Academic Health Sciences Centre (Genetic Medicine), St. Mary's Hospital, Manchester, United Kingdom;
  6. 6 Departement de Biotherapie, AP-HP, Hopital Universitaire Necker-Enfants Malades, Paris, France;
  7. 7 Centro Trapianto di Midollo Osseo Fondazione MBBM, Clinica Pediatrica dell'Universita di Milano-Bicocca, Monza, Italy;
  8. 8 Dept. of pediatric immunology and hematology, Hospital Necker-Enfant Malades, Paris, France;
  9. 9 Division of Pediatric Blood and Marrow Transplantation, Duke University, Durham, NC, United States;
  10. 10 Program for the Study of Neurodevelopment in Rare Disorders, University of Pittsburgh, Pittsburgh, PA, United States;
  11. 11 Our Lady's Children's Hospital, Dept of Hematology and BMT, Dublin, Ireland;
  12. 12 Blood and Marrow Transplantation Program, Great Ormond Street Hospital, London, United Kingdom;
  13. 13 Center for International Blood and Marrow Transplant Research, Department of Medicine, Medical College of Wisconsin, Milwaukee, WI, United States;
  14. 14 Eurocord/Hopital Saint Louis, Paris, France
  1. * Corresponding author; email: j.j.boelens{at}

Key points

  • In Hurler Syndrome patients early referral for HCT, with the best available HLA-matched donor offers the best "event free survival".

  • In Hurler syndrome patients HCT with a well matched unrelated cord blood unit is particularly attractive as the unit is readily available.


We report transplantation outcomes on 258 children with Hurler syndrome (HS) after a myelo-ablative conditioning regimen from 1995 to 2007. Median age at transplant was 16.7 months and median follow-up was 57 months. The cumulative incidence (CI) of day-60 neutrophil recovery was 91%, day-100 acute-GvHD (grade II-IV), 25%, and 5-year chronic-GvHD, 16%. Overall survival (OS) and event free survival (EFS) at 5-years were 74% and 63%, respectively. EFS after HLA matched sibling donor (MSD) and 6/6 matched unrelated-cord blood (CB) were similar at 81%, 66% after 10/10 HLA matched unrelated donor (UD) and 68% after 5/6 matched CB. EFS was lower after transplantation of 4/6 matched unrelated CB (57%; p=0.031) and HLA mismatched UD (41%; p=0.007). Full donor chimerism (p=0.039) and normal enzyme levels (p=0.007) were higher after CB transplantation (92% and 98%, respectively) compared to the other grafts sources (69% and 59%, respectively). In conclusion, results of allogeneic transplantation for HS are encouraging with similar EFS rates after MSD, 6/6 matched unrelated-CB, 5/6-unrelated-CB and 10/10 MUD. The use of mismatched UD and 4/6 matched-unrelated CB was associated with lower EFS.

  • Submitted September 7, 2012.
  • Accepted January 25, 2013.