HLA-haploidentical blood progenitor cell transplantation in osteopetrosis

• Published in: Blood Vol. 99; no. 9; pp. 3458 - 3460
• Main Authors: Schulz, Ansgar S., Classen, Carl Friedrich, Mihatsch, Walther A., Sigl-Kraetzig, Michael, Wiesneth, Markus, Debatin, Klaus-Michael, Friedrich, Wilhelm, Müller, Susanna M.
• Format: Journal Article
• Language: English
• Published: Washington, DC Elsevier Inc 01.05.2002; The Americain Society of Hematology
• Subjects: Anesthesia. Intensive care medicine. Transfusions. Cell therapy and gene therapy; Biological and medical sciences; Blood Cells - transplantation; Bone marrow, stem cells transplantation. Graft versus host reaction; Disease-Free Survival; Diseases of the osteoarticular system; Family Health; Female; Haplotypes; Hematopoietic Stem Cell Transplantation - adverse effects; Hematopoietic Stem Cell Transplantation - methods; Histocompatibility Testing; Humans; Infant; Infant, Newborn; Lymphocyte Depletion; Male; Malformations and congenital and or hereditary diseases involving bones. Joint deformations; Medical sciences; Osteopetrosis - complications; Osteopetrosis - congenital; Osteopetrosis - therapy; Transfusions. Complications. Transfusion reactions. Cell and gene therapy; Transplantation Conditioning - adverse effects; Treatment Outcome; Human; HLA-System; Stem cell; Treatment efficiency; Major histocompatibility system; Diseases of the osteoarticular system; Related donor; Homograft; Transplantation; Haploidentical; Genetic disease; Blood cell; Osteopetrosis; Treatment; Surgery; Graft; Osteochondrodysplasia; Child; Histocompatibility; Progenitor cell
• ISSN: 0006-4971; 1528-0020
• DOI: 10.1182/blood.V99.9.3458

Infantile osteopetrosis (OP) carries an extremely poor prognosis unless treated early by hematopoietic stem cell transplantation. We explored the use of purified blood progenitor cells from HLA-haploidentical parents in 7 patients lacking suitable matched donors. Blood progenitor cells were purified by positive selection and by additional T-cell depletion using rosette formation. For conditioning, patients received busulfan, thiotepa, and either cyclophosphamide (5 patients) or fludarabine (2 patients). Stable donor engraftment developed in 6 of 7 patients. Graft-versus-host disease was not observed. Three of the 7 patients had no major complications and 4 of 7 had both veno-occlusive disease and respiratory failure. Five of 7 patients survive with complete cure of OP at a median of 4 years. Patients with OP lacking HLA-matched donors can be successfully treated by transplantation of purified blood progenitor cells from HLA-haploidentical donors.