title: Gene therapy in the treatment of Fanconi anemia, a progressive bone marrow failure syndrome.
abstract: Fanconi anemia (FA) is a genetic disease characterized by progressive, fatal bone marrow failure, congenital anomalies and predisposition to cancer. Although stem cell transplantation is therapeutic, human leukocyte antigen-identical sibling donors are available to a minority of patients. In murine models and human cells in vitro, gene transfer corrects the FA cellular phenotype of chromosomal breakage in response to DNA-damaging agents, suggesting therapeutic use of gene transfer is possible. However, disease-specific characteristics make application of viral vector technology difficult. Multiple studies are currently underway to develop a gene therapy approach for treating this disease, including phase I trials.
authors.affiliation: Fanconi Anemia Comprehensive Care Center, Cincinnati Children's Hospital Medical Center and University of Cincinnati College of Medicine, Division of Experimental Hematology, Department of Pediatrics, Cincinnati, OH 45229, USA. David.Williams@cchmc.org
authors.forename: David A
authors.initials: DA
authors.lastname: Williams
authors.forename: James
authors.initials: J
authors.lastname: Croop
authors.forename: Patrick
authors.initials: P
authors.lastname: Kelly
mesh_terms: D002986:Clinical Trials as Topic; D005199:Fanconi Anemia / Q000235:genetics / Q000628:therapy*; D018014:Gene Transfer Techniques; D015316:Genetic Therapy / Q000009:adverse effects; D005822:Genetic Vectors; D018380:Hematopoietic Stem Cell Transplantation; D006412:Hematopoietic Stem Cells; D006801:Humans; D066298:In Vitro Techniques