FA Family Newsletter Fall 04 - Fanconi Anemia Research Fund

Frank Smith, MDFA Gene Therapy Trial Openscontinued from 1that scientists now better understandthe use of viruses to target the correctcells. The goals of FA gene therapyare to transfer normal copies ofthe FA-A gene into patients’ bloodstem cells, with the hope that correctedcells replicate more rapidlythan defective FA cells in the bonemarrow.In the case of FA patients, stemcells are first harvested from bonemarrow or peripheral blood. A viralvector carries a normal FA gene intothe FA stem cells. Corrected cells areYour FA Research Dollars at Work in 2004Through the end of September, 2004, the Fanconi Anemia Research Fundawarded $567,952 in research grants to the following projects:Investigator: Jakub Tolar, PhD, and Bruce Blazar, MD, University of MinnesotaSchool of MedicineTitle: In Vivo Human Hematopoietic Stem Cell Transgenesis by TranspositionAmount: $98,622Investigator: Maureen Hoatlin, PhD, Oregon Health & Science UniversityTitle: Functional Analysis of FA PathwayAmount: $152,000Investigator: Anna Petryk, MD, University of Minnesota School of MedicineTitle: Glucose and Insulin Abnormalities in FAAmount: $12,371Investigator: Patrick Kelly, MD, Cincinnati Children’s Hospital Medical CenterTitle: Hematopoietic Cells from Patients with FA for Future AutologousReinfusion and ResearchAmount: $50,000Investigator: Madeleine Carreau, PhD, Laval University, QuebecTitle: Characterization of FANCC Proteolytic FragmentsAmount: $43,500Investigator: John Postlethwait, PhD, University of OregonTitle: A Zebrafish Model for FAAmount: $88,242Investigator: Johnson Liu, MD, Mount Sinai School of MedicineTitle: Supplemental FundingAmount: $36,817Investigator: Uma Lakshmipathy, PhD, and Catherine Verfaillie, MD, Universityof Minnesota School of MedicineTitle: FANCC Gene Correction Mediated by PhiC31 IntegraseAmount: $86,400then returned to the patient. Importantnote: Smith emphasized theneed to collect and freeze stem cellsfrom FA patients before marrow failure.Otherwise, there may be too fewstem cells to allow gene therapy towork with enough efficiency. Cincinnatiand other centers are now urgingpatients and their physicians to considerthe advisability of an early stemcell harvest to preserve the option ofa later gene therapy procedure.The Cincinnati gene therapystudy has three stated objectives:first, to explore the feasibility of collectingstem cells and securing genetransfer into them; second, to establishthe safety of stem cell collection,re-infusion of corrected cells, and theuse of competent retroviruses whichtarget appropriate cells; and third, todetect corrected peripheral bloodand bone marrow cells in the patientover a substantial period of time.FA-A patients have been invitedto apply to participate in the trial.Patients must have normal bone marrowcytogenetics (within a recenttesting period); must weigh greaterthan 10 kg; must be between agesone and 35; and must have an adequateunrelated donor identified (inthe event of a need for a BMT “rescue”).Sufficient CD34 + cells (a typeof stem cell) must be collected for thetrial to proceed.Prospective patients are excludedif they have a matched sibling donor;if they are currently on anotherexperimental therapeutic agent; ifthey have a malignancy, clonal cytogeneticsor MDS; if they have noidentified unrelated donor; or if theyare pregnant or lactating.For additional information,contact Robin Mueller, RN, atrobin.mueller@cchmc.org or at513-636-3218. The entire FA communitywill be watching for theseinvestigative results with enormoushope and interest. ◆4 FA Family Newsletter