How can I Participate and What can I Expect?

Individuals with one of the inherited bone marrow failure syndromes, and their parents, brothers, sisters, and children, are all invited to participate. Those who come to the NIH Clinical Center (CC) will belong to the "CC Cohort," and those who do not come will belong to the "Field Cohort."

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Individuals who choose to participate in the NCI IBMFS Cohort will be asked to complete a family history questionnaire and an individual information questionnaire. Physical examinations and samples of blood, bone marrow (from those affected with the disorder), and other tissues may be requested for research studies.

We encourage participants in this study to visit the NIH Clinical Center, where we will offer comprehensive examinations by specialists, laboratory tests, and age-appropriate cancer screening tests. We also will collect information and blood samples that we will need for the research portion of this study.

Because the purpose of this study is to identify the relation between genes, physical examination and laboratory findings, and the risk of getting cancer, treatment is not being offered as part of this project. We will discuss treatment and disease prevention options with you and with your physicians (at your request). We will also provide assistance in establishing care with appropriate physicians if you are having difficulty identifying the proper health care providers. We expect our study participants to remain under the care of their regular doctors while they are participating in our study. If emergency medical problems develop while you are visiting the NIH Clinical Center as part of this study, we will of course provide the care needed to deal with that emergency.

For a family to be considered eligible to participate in this study, it must have one of the following:

1. Someone in the family must have been diagnosed, currently or previously, as having one of the named Inherited Bone Marrow Failure Syndromes described on this Website, or must have been told they had such a syndrome without a specific name having been attached to it.

   or

2. Someone in the family must have had an abnormal chromosome breakage test (the test for Fanconi’s anemia) using a DNA-damaging agent such as diepoxybutane (DEB) or mitomycin C (MMC).

   or

3. Someone in the family must have had an abnormal red cell adenosine deaminase (ADA) test (the test for Diamond Blackfan anemia).

   or

4. Someone in the family must have/have had the clinical and laboratory features typical for one of the known IBMFS (see individual descriptions).

If my family participates at the NIH Clinical Center, what will we receive?

1. Evaluation of detailed personal medical history along with family history of cancer.
   
   
2. Complete physical examinations, blood and bone marrow studies, x-ray/imaging tests, and age- and diagnosis-appropriate cancer screening.
   
   
3. Specialty consultations that are age- and diagnosis-appropriate, including audiology (hearing tests), dentistry, dermatology (skin examination), endocrinology (hormone studies), gastroenterology (intestines), genetic counseling, gynecology, hepatology (liver evaluation), neurology, ophthalmology (eye examination), otolaryngology (ears, nose and throat examination), neuro-otology (nerve-related hearing studies), physiatry (rehabilitation, physical medicine), pulmonology (lung studies), social work, urology (kidneys, bladder, prostate), and others as needed.
   
   
4. Information regarding genetic test results, when possible, for those who choose to learn their mutation status.
   
   
5. Advice about the management of existing clinical problems and, occasionally, information related to medical issues that may not have been previously recognized.
   
   
6. Education and advice regarding possible ways to reduce cancer risk.
   
   
7. Results of clinical tests and cancer screening evaluations, along with summary reports to primary care physicians.
   
   
8. Referral back to the primary physician or other consultants at home for medical interventions based on results of tests performed at the NIH.
   
   
9. Reporting of scientific results at the end of the study, which will also be shared with other physicians involved in the family’s care, if the family so desires.
   
   
10. Reimbursement for costs related to traveling to the NIH Clinical Center.
    

If your family fits one of these descriptions, and you are interested in contributing to the research on Cancer Susceptibility in Inherited Bone Marrow Failure Syndromes, please call 1-800-518-8474 to speak with this study’s Research Nurse, Lisa Leathwood or email her at LisaLeathwood@Westat.com. She can answer your questions and provide further information regarding CGB’s "Etiologic Investigation of Cancer Susceptibility in Inherited Bone Marrow Failure Syndromes (IBMFS)" project.

The following link will take you to the description of the protocol: http://clinicalstudies.info.nih.gov/detail/A_2002-C-0052.html.