Repository of Tissue Samples and Data from Patients with Fanconi Anemia
Why are we doing this research?
The purpose of this research study is to help investigators learn more about Fanconi anemia.
Who can participate?
Patients that have Fanconi anemia, a genomic instability syndrome, Seckel disease, Bloom’s syndrome, Nijmegen syndrome, and/or a Fanconi anemia-like disorder or you are a parent or sibling of such a patient.
- Adult Studies
- Immune Deficiency and Histiocytosis
- Hematology - Fanconi Anemia
What will happen in the study?
Bone marrow and tumor cells will be collected from you only when routine samples are being collected for standard diagnostic or treatment related reasons (this includes procedures required as part of another research study on which you are enrolled). Peripheral blood will be obtained when undergoing clinically indicated blood draws whenever possible. Skin biopsies will only be obtained if you are already undergoing a skin biopsy which is clinically indicated for diagnostic purposes, or when the skin biopsy is paired with another clinically indicated procedure, such as a bone marrow aspirate. Buccal cells (cells from the inside of your cheek), saliva samples and oral rinse specimens will be obtained during a routine clinic visit, visit for collection of research samples only, or at a special event.
What are the good things that can happen from this research?
If you agree to take part in this research study, there will not be a direct medical benefit for you. The information learned from this research study may benefit other patients with an immune disorder in the future.
Will I get all the facts about the study?
If you are interested in participating in this study, you will meet with a study coordinator who will explain all of the details of the study. The study coordinator will review the consent form and will be sure that all questions are answered. The consent form describes all the procedures, risks, benefits and who to contact with questions or concerns. Study procedures will not begin until the consent has been signed by the patient (if over 18 years) or the parent/guardian of the patient.
What are the bad things that can happen from this research?
A detailed list of possible risks will be provided to those patients interested in knowing more about the study.