1. ¹Department of Pediatric Hematology – Oncology, Hannover Medical University, Hannover, Germany
2. ²Department of Clinical Chemistry – Grohadern, University of Munich, Munich, Germany

Correspondence: Dr M Sauer, Department of Pediatric Hematology – Oncology, Children's Hospital-OE 6780, Hannover Medical University, Carl-Neuberg-Strae 1, 30625 Hannover, Germany. E-mail: sauer.martin@mh-hannover.de

Received 20 July 2006; Revised 10 November 2006; Accepted 11 November 2006; Published online 8 January 2007.

Abstract

Allogeneic hematopoietic stem cell transplantation (HSCT) is the only definitive treatment for severe bone marrow dysfunction and clonal disorders in patients diagnosed with Shwachman–Diamond syndrome (SDS). In an attempt to minimize regimen-related toxicity (RRT), we have initiated a fludarabine/treosulfan/melphalan-based pilot protocol avoiding the combination of busulfan and cyclophosphamide. Median age at transplantation was 9.6 years (range 1.5–17 years). All three patients received conditioning with fludarabine (30 mg/m²/day 6), treosulfan (12 g/m²/day 3) and melphalan (140 mg/m²/day 1). CAMPATH-1H (0.1 mg/kg 2) was added in two cases, while rabbit ATG (Genzyme; 3 2.5 mg/kg) was given to the cord blood recipient. One patient was transplanted with a non-manipulated marrow graft from an HLA-identical sibling, one with a marrow graft from a 10/10 matched unrelated donor, and one with a 9/10 matched unrelated umbilical cord blood (UCB) unit. Mean cell doses given were 3.6 10⁸ nucleated cells/kg BW for the bone marrow recipients and 4.2 10⁷ nucleated cells/kg BW for UCB recipient. Overall, two of three patients are alive and display 100% donor chimerism. Acute graft-versus-host disease grade II was seen in one patient, while no GVHD exceeding grade I occurred in the remaining two.