Clinical Trial: Bone Marrow Cell Gene Transfer in Individuals With Fanconi Anemia

Study Status: Completed
Recruit Status: Completed
Study Type: Interventional

Official Title: Gene Transfer From Patients With Fanconi Anemia, Genotype A: A Pilot Study

Brief 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 Summary:

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 f
Sponsor: Boston Children’s Hospital

Current Primary Outcome:

  • Safety of gene transfer methods [ Time Frame: 3months, 6 months and yearly up to 15 years post gene transfer ]
  • Short-term and long-term engraftment of gene-corrected autologous hematopoietic cells (all measured at Year 1) [ Time Frame: 3months, 6 months and yearly up to 15 years post gene transfer ]


Original Primary Outcome:

Current Secondary Outcome:

  • Frequency and function of the integrated recombinant Fanconi vector [ Time Frame: 3months, 6 months and yearly up to 15 years post gene transfer ]
  • Efficiency of engraftment of multilineage gene corrected clones [ Time Frame: 3months, 6 months and yearly up to 15 years post gene transfer ]
  • Lineage contribution and longevity of molecularly distinguishable gene marked clones [ Time Frame: 3months, 6 months and yearly up to 15 years post gene transfer ]
  • Development of myelodysplastic syndrome or overt leukemia (all measured at Year 1) [ Time Frame: 3months, 6 months and yearly up to 15 years post gene transfer ]


Original Secondary Outcome:

Information By: Boston Children’s Hospital

Dates:
Date Received: January 4, 2006
Date Started: August 2004
Date Completion:
Last Updated: September 18, 2014
Last Verified: September 2014