Global Gene Therapy Clinical Trial for

Fanconi Anemia

What is Fanconi anemia (FA)?

FA is a rare genetic disorder affecting DNA repair. Approximately two-thirds of FA cases are caused by mutations in theFANCA gene, which results in the FA subtype known as FA Complementation Group A (FA-A). FA patients may develop bone marrow failure, leukemia, myelodysplastic syndrome, and solid tumors, including squamous cell carcinoma of the head and neck.

What is the purpose of this FA-A gene therapy clinical trial?

This study is an open-label trial to assess the use of autologous hematopoietic stem and progenitor cells (HSPCs) transduced ex vivo with a lentiviral vector (LV) encoding for the FANCA gene to treat FA-A, and to prevent hematologic progression to severe bone marrow failure requiring allogeneic hematopoietic stem cell transplantation.

Who is eligible to participate in the FA-A gene therapy clinical trial?

FA-A patients ages 1 through 12 with mild or moderate cytopenias, who have not developed severe bone marrow failure or dysplasia, who do not have an HLA-matched sibling donor for bone marrow transplant, and are not receiving other experimental therapies.

What does participation in the FA-A gene therapy clinical trial involve?

Following screening of patients to confirm eligibility for the trial, participating in the study will involve:

  • Mobilization and Collection of HSPCs: Mobilization is performed via administration of granulocyte-colony stimulating factor (G-CSF) and plerixafor (AMD-3100). Collection is performed via peripheral blood apheresis, requiring a temporary central venous catheter.
  • Infusion of Genetically Modified Stem Cells (the Investigational Gene Therapy): Following ex vivo transduction of HSPCs with the LV encoding for the FANCA gene, the gene-modified HSPCs are infused into the patient.
  • Follow-up after Administration of the Investigational Gene Therapy: Patients will need to return for follow-up visits, including blood and bone marrow tests, over the following 3 years.  In addition, patients will have long-term follow-up with their home physician approximately 1-2 times per year for an additional 12 years.

How much will it cost to participate in the trial?

Financial support, including travel arrangements and housing accommodations for patients and a family member, both for the treatment and follow-up visits, will be provided.