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Fanconi Anemia

Collection of Hematopoietic Cells from Patients with Fanconi Anemia (FA) for Future Autologous Reinfusion and Research

What is the purpose of this study?

The purpose of this study is to collect, study, and store a large amount of special blood cells (called CD34+ cells) collected from either the bone marrow (where blood cells are produced) or the peripheral blood (taken from veins) from patients with Fanconi anemia (FA).

Who can participate?

This study is open to patients diagnosed with FA who do not have evidence of severe bone marrow failure. Your hemoglobin (cells which carry oxygen) count needs to be 8 gm/dL or greater; your platelet (help blood clot) count needs to be 30,000/mcL or greater, and your absolute neutrophil count (infection fighting cells) needs to be greater than 750/mcL. Your weight must be greater than 22 pounds and you must be between the ages of 1 to 35 years. 

What is involved?

If you are accepted for this study, you will have a history and physical exam and several laboratory tests to include:  a complete blood count, an infectious disease screen, tests to check your liver and kidney function, a test to check your blood type, and a pregnancy test (if applicable). You will also need to have a bone marrow biopsy / aspirate performed.  These tests results will be discussed with you to determine which type of collection (bone marrow or peripheral blood) is recommended.

What are the benefits?

You will have your cells available for future use should you develop severe bone marrow failure; however, the use of your cells is experimental and it is not known if any of the research studies offered will result in any direct benefit to you. 

What are the risks?

The risks of this study are specific to the type of collection (bone marrow or peripheral blood) you will undergo. The risks specific to both types of collection will be explained to you in detail to help you decide which type of collection you wish to request. All participants are subject to receive blood and/or platelet transfusions, the risks of which include allergic reaction, fever, chills, nausea and transmitting infections. 

Will I be paid for participating in this study?

No.

Who should I contact?

Robin Mueller, RN, Nurse Coordinator
Fanconi Anemia Comprehensive Care Center
513-636-3218
robin.mueller@cchmc.org