Blood Cell Collection for Future Use in Individuals With Fanconi Anemia

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.

Inclusion Criteria:

- Diagnosis of FA

- Normal bone marrow cytogenetics within 3 months of study entry

- Absolute neutrophil count (ANC) level greater than 750

- Hemoglobin level greater than 8 without transfusion

- Platelet level greater than 30,000 without transfusion

- Must weigh at least 7.5 kg

Exclusion Criteria:

- Myloid or lymphoid leukemia

- Cytogenic abnormalities

- HIV infected

- Neoplastic or non-neoplastic disease of any major organ system that would compromise
the ability to withstand the collection procedure

- Uncontrolled infection

- Unable to tolerate general anesthesia

- Known adverse reaction to E. Coli

- Pregnant or breastfeeding