Hematopoietic stem cell transplantation for infantile osteopetrosis

Paul J. Orchard, Anders L. Fasth, Jennifer L. Le Rademacher, Wensheng He, Jaap Jan Boelens, Edwin M. Horwitz, Amal Al-Seraihy, Mouhab Ayas, Carmem M. Bonfim, Farid Boulad, Troy Lund, David K. Buchbinder, Neena Kapoor, Tracey A. OBrien, Miguel A.Diaz Perez, Paul A. Veys, Mary Eapen

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37 Scopus citations

Abstract

We report the international experience in outcomes after related and unrelated hematopoietic transplantation for infantile osteopetrosis in 193 patients. Thirty-four percent of transplants used grafts from HLA-matched siblings, 13% from HLA-mismatched relatives, 12% from HLA-matched, and 41% from HLA-mismatched unrelated donors. The median age at transplantation was 12 months. Busulfan and cyclophosphamide was the most common conditioning regimen. Long-termsurvival was higher afterHLA-matched sibling compared to alternative donor transplantation. There were no differences in survival after HLAmismatched related, HLA-matched unrelated, or mismatched unrelated donor transplantation. The 5- and 10-year probabilities of survival were 62% and 62% after HLA-matched siblingand42%and39%after alternative donor transplantation (P5.01 andP5.002, respectively). Graft failurewasthemostcommon cause of death, accounting for50%of deaths after HLA-matched sibling and43%of deaths after alternative donor transplantation. The day-28 incidence of neutrophil recovery was 66% after HLA-matched sibling and 61% after alternative donor transplantation (P5.49). The median age of surviving patients is 7 years. Of evaluable surviving patients,70%are visually impaired;10%have impaired hearing and gross motor delay. Nevertheless, 65% reported performance scores of 90 or 100, and in 17%, a score of 80 at last contact. Most survivors >5 years are attending mainstream or specialized schools. Rates of veno-occlusive disease and interstitial pneumonitis were high at 20%. Though allogeneic transplantation results in long-term survival with acceptable social function, strategies to lower graft failure and hepatic and pulmonary toxicity are urgently needed.

Original languageEnglish (US)
Pages (from-to)270-276
Number of pages7
JournalBlood
Volume126
Issue number2
DOIs
StatePublished - Jul 9 2015

ASJC Scopus subject areas

  • Biochemistry
  • Immunology
  • Hematology
  • Cell Biology

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  • Cite this

    Orchard, P. J., Fasth, A. L., Le Rademacher, J. L., He, W., Boelens, J. J., Horwitz, E. M., Al-Seraihy, A., Ayas, M., Bonfim, C. M., Boulad, F., Lund, T., Buchbinder, D. K., Kapoor, N., OBrien, T. A., Perez, M. A. D., Veys, P. A., & Eapen, M. (2015). Hematopoietic stem cell transplantation for infantile osteopetrosis. Blood, 126(2), 270-276. https://doi.org/10.1182/blood-2015-01-625541