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 genetic defects in the FANCA gene, which results in the FA subtype known as FA Complementation Group A (FA-A). FA patients may develop bone marrow failure (very low blood counts), cancers of the blood or other cancers.

How does this investigational gene therapy work?

Blood stem cells collected from an FA-A patient are genetically modified to introduce an intact copy of the FANCA gene using a virus that has been changed in the laboratory so that it cannot grow or spread to cause an infection. The genetically modified cells are then returned back into the patient.

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

FA-A patients ages 1 through 12, who have not developed severe bone marrow failure, 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?

Before a patient begins the study, a patient will have to have several tests to determine whether he or she is eligible to join the trial. These tests can take up to 1 month to complete.

After the doctors conducting the study confirm that a patient is eligible for the trial, participating in the study will involve:

  • Stem Cell Collection: Stem cells have the potential to make different blood cells in the body. Patients will receive medications that make stem cells in their bone marrow enter the blood, where they will be collected from the patient’s vein (most likely using a large, temporary catheter) during a procedure called apheresis.
  • Infusion of Genetically Modified Stem Cells (the Investigational Gene Therapy): The patient’s stem cells will be genetically modified in a laboratory to introduce the intact copy of the FANCA gene. The patient will then receive an infusion of the gene-modified cells through the intravenous catheter. There is no conditioning chemotherapy before the infusion.
  • 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 next 3 years.  In addition, patients will have long-term follow-up with their home physician approximately 1-2 times per year for another 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.