HLA-haploidentical blood progenitor cell transplantation in osteopetrosis

Patients with early relapse of primary hemophagocytic syndromes or with persistent CNS involvement may benefit from immediate hematopoietic stem cell transplantation

“…Lineage-specific chimerism was analyzed after selection of CD3 þ , CD15 þ , CD56 þ and CD19 þ cells using the MACs system (Milteny Biotec) as previously described. 20 …”

“…Transplants from haploidentical donors were depleted of T cells using the CliniMACS system (Milteny Biotec, Bergisch Gladbach, Germany) to purify CD34 þ cells as previously described. 20 GVHD prophylaxis in the other patients consisted of shortterm MTX (15 mg/m 2 on day 1, and 10 mg/m 2 on days 3 and 6) and CsA for 3-6 months. Four patients received CsA only.…”

Assessing the risk of transplant-related complications and individually tailoring the HSCT procedure in children and adolescents—is it possible?

“…Complete baseline pre-transplant evaluation of liver function including transaminases, cholestatic parameters, coagulation profile and ferritin levels is always recommended before transplant, and furthermore, hepatic Table 2 Most frequent risk factors for VOD Second HSCT using myeloablative regimens 56 Elevated pre-transplant transaminases Low albumin levels 57 Extensive fibrosis or cirrhosis 58 Earlier abdominal irradiation 18 Allogeneic HSCT for leukaemia over the second relapse 59 Earlier treatment with gemtuzumab ozogamicin 60 BU and L-PAM used in the CRs 61 Osteopetrosis 62 Macrophage activating syndromes Adrenoleukodystrophy…”

Successful second haploidentical SCT in osteopetrosis

“…Historically, the outcome of haploidentical HSCT for treatment of OP has been disappointingly poor, with a survival rate of approximately 25%, although since 1994 there has been a trend for better results. 9 A single-center study reported significant improvement in survival with five out of seven cured patients. 9 Our approach demonstrates that the first conditioning regimen with fludarabine, busulfex, thiotepa and Campath 1H was sufficient to provide transient chimerism and bone remodeling (as evidenced by hypercalcemia), and prevent progressive loss of vision, but was not enough for sustained long-term chimerism.…”

“…9 A single-center study reported significant improvement in survival with five out of seven cured patients. 9 Our approach demonstrates that the first conditioning regimen with fludarabine, busulfex, thiotepa and Campath 1H was sufficient to provide transient chimerism and bone remodeling (as evidenced by hypercalcemia), and prevent progressive loss of vision, but was not enough for sustained long-term chimerism. The second haploidentical HSCT was facilitated by temporary osteoclast activity, with the creation of a BM niche for successful stem cell engraftment as was previously shown in cases of a second transplantation with umbilical cord.…”