Blood Cell Collection for Future Use in Individuals With Fanconi Anemia
Condition: Fanconi Anemia
MeSH terms: Fanconi Syndrome; Anemia; Fanconi Anemia
Study type: Interventional

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 description: 
      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 begin through an IV placed in the
      arm or a temporary collection catheter placed under the participants' collarbone. Blood cells
      will be collected, with some cells separated out and the remainder of the cells infused back
      into the participant. The length of this procedure will vary for each participant; it will
      take 3 to 6 hours a day, for 1 to 4 days. Participants may require blood and/or platelet
      transfusions prior to and during the procedure.

      Following the bone marrow harvest and PBSC procedures, CD34+ cells will be isolated in a
      laboratory. The majority of the cells will be frozen and stored for future use by the
      participants. A small portion of the cells will be available for researchers to perform
      experimental research to better understand FA.

      The study completion date listed in this record was obtained from the "End Date" entered in
      the Protocol Registration and Results System (PRS) record.
    

Intervention name(s): PBSC Collection; Bone Marrow Harvest; CliniMacs Cell Selection System
Intervention type(s): Procedure; Procedure; Device
Allocation: Non-Randomized
Intervention model: Single Group Assignment
Masking: None (Open Label)
Primary purpose: Treatment