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Fanconi Anemia Comprehensive Care Center (FACCC)

What is Fanconi anemia (FA)? FA is a rare inherited anemia that over time leads to bone marrow failure, or aplastic anemia. Individuals with FA also have a greater risk of many types of cancers. FA occurs when both parents carry a mutation, or defect, in one of several FA genes, and their child inherits the defective gene from both parents. Approximately 10 to 20 children are born with FA each year in the US.

Care of FA. The Fanconi Anemia Comprehensive Care Center (FACCC) at Cincinnati Children’s is one of the largest in the world and the first of its kind in the United States. The Center currently provides care for more than 130 children who come from throughout the United States and the world. The Center also provides compassionate, multidisciplinary care for children who have been diagnosed with Fanconi anemia, as well as support and education for families.

Research at the FACCC In addition to care and education, physicians and researchers at Cincinnati Children’s Hospital offer a number of clinical research studies for patients and families with Fanconi anemia. Some studies look at hormone replacement therapy; others look at immune function and infection with Fanconi anemia. Others study intervention strategies to improve quality of life for children with Fanconi anemia.

An invitation to participate in a research study of HPV. We would like to invite you to participate in a research study that will provide insights into the clinical importance of human papillomavirus (HPV) in head and neck cancers found in Fanconi Anemia. This study is funded by the National Institute of Health and the Fanconi Anemia Research Foundation (FARF). The Principle Investigator’s name is Melinda Butsch Kovacic, MPH, PhD.

What does this study involve? The study involves collection of personal and family health and behavior information by survey (online or written), oral rinse samples from individuals with FA and/or members of their immediate families. The information and samples collected will be used to evaluate the presence of human papillomavirus (HPV). In addition, the Fanconi Anemia Research Fund is supporting the collection and testing of blood samples for HPV.

Why is this research important? This research is important because our previous studies have suggested that HPV infection may be more common in individuals with FA. Transmission of HPV in the general population occurs predominantly via sexual contact; however, individuals with FA might be at greater risk of infection and also acquire HPV through other means. Studies have previously reported a greater presence of head and neck cancers among individuals with FA compared to the general population. In fact, the risk of these cancers among individuals with FA in the International Fanconi Anemia Registry was estimated to be over 500-fold higher than that of the general population.  Most of these individuals with FA did not have a history of tobacco or alcohol use, which are the risk factors most strongly linked to HPV-negative head and neck cancer in the general population. Vaccination to prevent infection by four different types of HPV is now available, and findings from this study might support the need for earlier vaccination of children with FA.

Voluntary? You may choose not to participate, not to answer any question, or to stop at any time. You may participate in all or only parts of the study (i.e. give oral samples but not blood or vice versa). All surveys and samples will be number-coded and a link between the number code and your/your child’s name will be kept confidential. You will not be paid for your participation, but your responses may help researchers to better understand the factors that influence the health of those with FA.

Videos

How to take samples from a child (62MB)

How to take samples from a toddler (230MB - This is a large file. Click the link, click Save on the popup, and save the file to your computer to watch.)

Unpacking the Mailed Box Containing Sample Kits (28MB)

Questions? If you have any questions about this research project or think that you may want to participate, please feel free to contact us! 

Telephone: 513-803-0183          Email: sharon.sauter@cchmc.org

Telephone: 513-803-0130          Email: melinda.butsch.kovacic@cchmc.org