Participation

Individuals with one of the [glossary term:] inherited bone marrow failure [glossary term:] syndromes, and their unaffected or affected parents, brothers, sisters, and children, as well as some other relatives, are invited to participate.

Individuals who choose to participate in the study 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, including tumors, may be requested for research studies.

We may offer participants in this study the opportunity to visit the NIH Clinical Center where we can offer comprehensive examinations by specialists, laboratory tests, and age-appropriate [glossary term:] cancer screening tests. At the same time, we also will collect information and samples needed for the research portion of this study.

The purpose of this study is to identify the relationship between [glossary term:] genes, physical examination and laboratory findings, and the risk of getting cancer. Treatment is not being offered as part of this project. However, we will discuss treatment and disease prevention options with participants and their physicians (at the participant's request). We will also provide assistance in establishing care with appropriate physicians if needed. 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 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, someone in the family must have must have one of the following:

  1. A diagnosis of one of the named inherited bone marrow failure syndromes described on this website, or have been told they had a bone marrow failure syndrome without a specific name attached to it.
    or
  2. An abnormal [glossary term:] chromosome breakage test (the test for Fanconi’s anemia).
    or
  3. An abnormal red cell adenosine deaminase (ADA) test (the test for Diamond-Blackfan anemia).
    or
  4. An abnormal telomere length test (very short) (the test for dyskeratosis congenita).
    or
  5. 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?

We invite affected individuals as well as their parents, siblings, and children to come to the NIH for a one week evaluation.

  1. Detailed personal medical history along with family history, including [glossary term:] cancer.
  2. Complete physical examinations, blood and bone marrow studies (as appropriate), 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), 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.
  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 to the family at the end of the study, which they may share with other physicians involved in the family’s care.
  10. Reimbursement for costs related to traveling to the NIH Clinical Center.

The following link will take you to the description of the protocol: https://www.cc.nih.gov/home/clinicalstudies.html.

Join Us comment icon

How can I join?

Individuals with one of the [glossary term:] inherited bone marrow failure [glossary term:] syndromes and their family members are encouraged to participate.

Phone: 1-800-518-8474 to speak with the referral nurse
Email: NCI.IBMFS@westat.com