Last updated on March 2020

Gene Therapy for Fanconi Anemia

Brief description of study

This pilot clinical trial will access the toxicity and efficacy of infusion of gene modified cells for patients with Fanconi anemia (FA). Infusion of autologous patient blood stem cells that have been corrected in the laboratory by introduction of the normal gene may improve blood counts in patients with FA.

Detailed Study Description


I. To determine the safety of lentiviral gene transfer for patients with Fanconi anemia complementation group A.


I. To determine the feasibility and efficacy of filgrastim (G-CSF) and plerixafor mobilization in FA patients.

II. To determine the feasibility and efficacy of lineage depletion of bone marrow or mobilized apheresis product.

III. To determine the transduction efficiency for human FA patient hematopoietic progenitor cells transduced with a clinical grade lentiviral vector encoding the gene for Fanconi anemia complementation group A.

IV. To determine if gene transfer using the clinical grade vector will result in phenotypic correction of gene modified cells by in vitro assays.

V. To determine if infusion of FANCA gene-modified cells will result in engraftment and persistence of gene-modified cells and improvement in blood counts in FA patients.


STEM CELL MOBILIZATION FOR CELL COLLECTION: Patients receive filgrastim subcutaneously (SC) twice daily (BID) for 5-6 days (on days 1-6 of mobilization). Patients receive plerixafor SC once daily (QD) on days 4-6 of mobilization. Peripheral blood stem cell (PBSC) count will be checked daily starting on day 4 of mobilization. Patients who have a PBSC count of >= 5 CD34+ cells/mcL will undergo up to 2 apheresis collections on consecutive days.

BONE MARROW HARVEST FOR CELL COLLECTION: Patients with inadequate PBSC counts undergo bone marrow harvest for collection of stem/progenitor cells.

REINFUSION: Patients receive methylprednisolone intravenously (IV) or prednisone orally (PO) on days -1 to 7 followed by a rapid taper over approximately 1 week and undergo reinfusion of genetically modified hematopoietic stem/progenitor cells on day 0.

After completion of study treatment, patients are followed up periodically for 15 years.

Clinical Study Identifier: NCT01331018

Recruitment Status: Closed

Brief Description Eligibility Contact Research Team

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