Clinical Trial: Blood Cell Collection for Future Use in Individuals With Fanconi Anemia

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

Official Title: Collection of Hematopoietic Cells From Patients With Fanconi Anemia (FA) for Future Autologous Reinfusion and Research

Brief Summary: Fanconi anemia (FA) is a disease that affects an individual's bone marrow. It is caused by a defective gene in the CD34+ cells, which are responsible for producing various types of blood cells. Individuals with FA may experience fatigue, bleeding, and increased infections. The purpose of this study is to collect and purify blood cells from individuals with FA and store them for future therapeutic use.

Detailed Summary:

FA is a rare, inherited disease that is caused by a gene defect to the CD34+ cells. It 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. This study will use two methods to collect, purify, and store participant's CD34+ cells for future use in case of severe bone marrow failure. The collected cells will also be used by researchers to better understand the causes of FA and to possibly develop new treatments.

This study will enroll individuals with FA. All participants will undergo a bone marrow biopsy within 3 months of study entry. Based on the results of this biopsy, participants will undergo either a bone marrow harvest procedure or a cytokine mobilized peripheral blood stem cell (PBSC) collection procedure. Prior to both procedures, medical history will be reviewed, blood will be drawn, liver and kidney function will be evaluated, and a physical examination will be performed. Participants who undergo the bone marrow harvest procedure will be admitted to the hospital, with a possible overnight stay for observation. The following day, participants will have a physical examination and blood draw for laboratory testing. A blood and/or platelet transfusion may be required following the procedure.

Participants who undergo the PBSC procedure will be required to receive injections of G-CSF, a protein found normally in the body, twice a day for 4 to 8 days prior to the procedure; G-CSF has been found to help increase the amount of CD34+ cells in the blood. Once the CD34+ level is within a certain range, the PBSC procedure will
Sponsor: National Heart, Lung, and Blood Institute (NHLBI)

Current Primary Outcome: CD34+ cell collection

Original Primary Outcome:

Current Secondary Outcome:

Original Secondary Outcome:

Information By: National Heart, Lung, and Blood Institute (NHLBI)

Dates:
Date Received: December 29, 2005
Date Started: August 2004
Date Completion:
Last Updated: July 11, 2016
Last Verified: December 2007