Allogeneic Hematopoietic Cell Transplantation for Severe Epidermolysis Bullosa: Impact of Conditioning Regimen and Stem Cell Source On Outcomes

Autor: Kristen P. Hook, Mark J. Osborn, Jakub Tolar, John E. Wagner, John A. McGrath, Douglas R. Keene, Bruce R. Blazar, Maria K. Hordinsky
Rok vydání: 2012
Předmět:
Zdroj: Blood. 120:965-965
ISSN: 1528-0020
0006-4971
Popis: Abstract 965 It is becoming clear that bone marrow (BM) and umbilical cord blood (UCB) cells can engraft in extramedullary tissues after hematopoietic cell transplantation (HCT). On the basis of preclinical testing in an animal model of recessive dystrophic epidermolysis bullosa (RDEB, an incurable, often fatal blistering genodermatosis), we evaluated the effectiveness of allogeneic HCT in ameliorating the biochemical and clinical manifestations of the disease in humans. RDEB is due to deficiency of type VII collagen (C7), which causes a lack of attachment between the epidermal basement membrane and the dermal matrix, and which results in a poor quality of life and early death as a result of chronic mucocutaneous blistering. Between 2007 and 2012, 18 patients with severe generalized RDEB have undergone allogeneic HCT at the University of Minnesota. Thirteen patients were treated with myeloablative (MA) conditioning (busulfan IV 0.8 mg/kg for >12 kg and 1.1 mg/kg for those Graft N Regimen N C7 Protein Expression Skin Healing1 Skin Chimerism, N (range)3 GvHD Acute/Chronic Alive Alive and Engrafted UCB 5 MA 4 2 1 1 (11–30%) 1/1 2 1 RIC 1 0 0 0 0/0 1 0 BM 13 MA 9 6 72 7 (2–97%) 1/0 7 7 RIC 4 1 32 2 (3–23%) 0/0 4 4 Total 18 18 10 11 10 2/1 14 11 1 Defined as a change in the amount of skin covered with blisters and erosions from >50% before HCT to Disclosures: No relevant conflicts of interest to declare.
Databáze: OpenAIRE
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