Allogeneic Hematopoietic Cell Transplantation Using Treosulfan-Based Conditioning for Treatment of Marrow Failure Disorders

Lauri M. Burroughs, Akiko Shimamura, Julie An Talano, Jennifer A. Domm, Kelsey K. Baker, Colleen Delaney, Haydar Frangoul, David A. Margolis, K. Scott Baker, Eneida Nemecek, Amy E. Geddis, Brenda M. Sandmaier, H. Joachim Deeg, Rainer Storb, Ann E. Woolfrey

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15 Scopus citations


Hematopoietic cell transplantation (HCT) is effective in the treatment of inherited marrow failure disorders and other nonmalignant diseases. Conventional myeloablative conditioning regimens have been associated with high transplant-related mortality, particularly in patients with comorbid conditions. Here we report on 14 patients with marrow failure disorders (Shwachman-Diamond syndrome, n = 3; Diamond Blackfan anemia, n = 4; GATA2 deficiency, n = 2; paroxysmal nocturnal hemoglobinuria, n = 4; and an undefined marrow failure disorder, n = 1) who underwent HCT on a prospective, phase II, multicenter clinical trial. Patients were given HLA-matched related (n = 2) or unrelated (n = 12) grafts after conditioning with treosulfan (42 g/m2), fludarabine (150 mg/m2), ± thymoglobulin (n = 11; 6 mg/kg). All patients engrafted. At a median follow-up of 3 years, 13 patients are alive with complete correction of their underlying disease. These results indicate that the combination of treosulfan, fludarabine, and thymoglobulin is effective at establishing donor engraftment with a low toxicity profile and excellent disease-free survival in patients with marrow failure disorders.

Original languageEnglish (US)
JournalBiology of Blood and Marrow Transplantation
Publication statusAccepted/In press - 2017



  • Bone marrow failure
  • Diamond Blackfan Anemia
  • Reduced-toxicity conditioning in nonmalignant diseases
  • Shwachman-Diamond Syndrome

ASJC Scopus subject areas

  • Hematology
  • Transplantation

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