Bone Marrow Cell Gene Transfer in Individuals With Fanconi Anemia
Condition: Fanconi Anemia
MeSH terms: Fanconi Syndrome; Anemia; Fanconi Anemia
Study type: Interventional
Phase: Phase 1

Summary: 
      Fanconi anemia (FA) is a disease that affects an individual's bone marrow. It is caused by a
      defective gene in the bone marrow cells that produce various types of blood cells.
      Individuals with FA may experience fatigue, bleeding, and increased infections. The purpose
      of this study is to evaluate the safety and effectiveness of a gene transfer procedure in
      generating new, healthy cells in individuals with FA.
    

Detailed description: 
      FA is a rare, inherited disease that is caused by a gene defect and that primarily affects an
      individual's bone marrow, resulting in decreased production of blood cells. The lack of white
      blood cells affects an individual's ability to fight infections, the lack of platelets may
      result in bleeding, and the lack of red blood cells usually leads to anemia. FA is typically
      diagnosed in childhood, and there is a high fatality rate. Bone marrow transplants are one
      common treatment for FA. However, there are many risks associated with transplantation,
      including rejection of the transplanted cells and graft-versus-host disease, a serious side
      effect in which donor cells attack the recipient's tissues. This study will use an
      experimental gene transfer procedure performed in a laboratory to insert a new FA gene into
      the participant's bone marrow cells. The gene-corrected bone marrow cells will then be
      re-infused into the participant and participants will be observed for successful gene
      transfer. The purpose of this study is to evaluate the safety and effectiveness of the FA
      gene transfer procedure and to determine the ability of the gene-corrected cells at
      generating new, healthy blood cells in individuals with FA.

      This study will enroll individuals with FA. Participants will be required to have the initial
      bone marrow transfer procedure performed at Cincinnati Children's Hospital, but will be
      allowed to see their own doctor for the majority of study visits. Participants will first
      attend a screening visit, which will include a physical exam, blood draw for laboratory
      testing, and a bone marrow biopsy. Bone marrow cells will be collected from eligible
      participants and sent to a laboratory for the FA gene transfer procedure. Several days later,
      the gene-corrected cells will be re-infused back into the participants via an intravenous
      catheter. Side effects will be closely monitored for 12 hours following the procedure and
      participants may be required to spend an overnight in the hospital. Following discharge from
      the hospital, participants will be required to stay in the Cincinnati area for 3 days to
      undergo daily evaluations and physical examinations. Participants will continue to be
      followed very closely for the first year after cell re-infusion. Study visits will be held
      weekly for the first 3 weeks, and then every 3 months for the remainder of the year. Visits
      will include physical examinations, blood collection, and liver function testing. Bone marrow
      testing will occur at Months 3, 6, and 12. Follow-up visits will occur yearly for up to 15
      years and will include blood collection, a physical exam, and review of medical history.
    

Intervention name(s): Retrovirus Construct
Intervention type(s): Genetic
Intervention description(s): This study will use an experimental gene transfer procedure performed in a laboratory to insert a new FA gene into the participant's bone marrow cells. The gene-corrected bone marrow cells will then be re-infused into the participant and participants will be observed for successful gene transfer
Intervention model: Single Group Assignment
Masking: None (Open Label)
Primary purpose: Treatment