Clinical and Genetic Studies in Familial Non-medullary Thyroid Cancer
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ClinicalTrials.gov Identifier: NCT01109420 |
Recruitment Status :
Recruiting
First Posted : April 23, 2010
Last Update Posted : May 16, 2022
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Background:
- Researchers are studying types of thyroid cancer that seem to cluster in families. Non-medullary thyroid cancer accounts for the vast majority of all types of thyroid cancer, but little is known about possible genes that may cause the cancer. More research is needed to develop the best ways to screen for familial non-medullary thyroid cancer (FNMTC) so that it can be diagnosed and treated at an early stage.
Objectives:
- To evaluate the natural history of FNMTC.
- To determine the best screening strategy for FNMTC.
- To identify genes that may indicate susceptibility to FNMTC.
Eligibility:
- Individuals at least 7 years of age who have two first-degree relatives (e.g., parents, children, siblings) who have or have had non-medullary thyroid cancer or a documented diagnosis of non-medullary thyroid cancer and one living relative with documented non-medullary thyroid cancer.
Design:
- Participants will be evaluated by family history pedigree, physical examination, imaging (including possible neck ultrasound and radioactive iodine scans), and laboratory testing.
- Participants who agree to have blood or other biological samples collected will be asked to enroll in an additional study to provide the appropriate samples and tissues.
- After the initial study evaluation, participants who are not found to have a malignant thyroid tumor will be re-screened every year with non-invasive imaging studies. Participants who are found to have a malignant thyroid tumor will be informed of possible treatment options.
Condition or disease |
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Non-Medullary Thyroid Cancer |
Background:
- Thyroid cancer is one of the fastest growing cancer diagnoses in the United States.
- Non-medullary thyroid cancer accounts for 95% of all thyroid cancer cases.
- Up to 8% of all non-medullary thyroid cancers are hereditary.
- Familial non-medullary thyroid cancer (FNMTC) is more aggressive than sporadic disease.
- No susceptibility gene for FNMTC has been identified.
- The best approach for screening at risk family members for FNMTC is unknown.
- This protocol is designed to determine the natural history and best screening strategy for FNMTC, and to identify susceptibility gene(s) for FNMTC.
Objectives:
- To evaluate the natural history of FNMTC.
- To determine the best screening strategy for FNMTC.
- To identify susceptibility gene(s) for FNMTC.
Eligibility:
- An individual with 2 first-degree relatives who have or have had non-medullary thyroid cancer or a documented diagnosis of non-medullary thyroid cancer and one living relative with documented non-medullary thyroid cancer (Note: as this is a familial study, subjects do not need to present with the disease)
Or
Any member of an affected family.
- Age greater than 7 years
- Adults must be able to understand and sign the informed consent document
- Adults must be able to complete the family history questionnaire
Design:
- Prospective observational study.
- Demographic, clinical and pathologic data will be collected from the medical record and patient interview for each patient participant and family members. Data will be securely stored in a computerized database. When possible, pathology slides and blocks will be obtained from all cases in the family for verification of diagnoses.
- Patients will be evaluated by family history pedigree, physical examination, imaging, and laboratory testing as indicated.
- Biospecimens, including peripheral blood or buccal cell samples as well as thyroid tissue (normal and affected by cancer), if participants have thyroidectomy, and thyroid cancer metastases tissue if patients undergo surgical removal of thyroid cancer metastases, will be collected for molecular analysis.
- After their initial on-study evaluation, patients who are not found to have a malignant thyroid tumor will be re-screened every year with non-invasive imaging studies.
- Treatment of patients with a thyroid neoplasm will be performed based on established clinical guidelines.
- Projected accrual will be 20 patients per year for a total of 15 years. Thus, we anticipate accruing 300 patients on this protocol.
Study Type : | Observational |
Estimated Enrollment : | 300 participants |
Observational Model: | Cohort |
Time Perspective: | Prospective |
Official Title: | Clinical and Genetic Studies in Familial Non-Medullary Thyroid Cancer |
Actual Study Start Date : | August 12, 2010 |
Group/Cohort |
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1/ Cohort 1
Affected with non-medullary thyroid cancer
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2/Cohort 2
Non-affected members of families with non-medullary thyroid cancer
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- To evaluate the natural history of FNMTC [ Time Frame: 20 years ]Evaluation the natural history of FNMTC

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Ages Eligible for Study: | 7 Years and older (Child, Adult, Older Adult) |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | Yes |
Sampling Method: | Non-Probability Sample |
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INCLUSION CRITERIA:
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An individual with 2 first-degree relatives who have or have had non-medullary thyroid cancer or a documented diagnosis of non-medullary thyroid cancer and one living relative with documented non-medullary thyroid cancer. (Note: as this is a familial study, subjects do not need to present with the disease.)
OR
Any member of an affected family. (Note: for this study, an affected family is defined as a family having 2 or more 1st degree relatives with a documented diagnosis of FNMTC.)
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Age greater than 7 years.
Note: at least one parent must provide consent for pediatric patients; patients will be re-consented once they reach 18 years of age.
- Adults must be able to understand and sign the informed consent document.
- Adults must be able to complete the family history questionnaire.
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To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01109420
Contact: Padmasree Veeraraghavan, N.P. | (301) 451-7710 | ncieobinquiry@mail.nih.gov | |
Contact: Joanna Klubo-Gwiezdzinska, M.D. | (301) 496-5052 | joanna.klubo-gwiezdzinska@nih.gov |
United States, Maryland | |
National Institutes of Health Clinical Center, 9000 Rockville Pike | Recruiting |
Bethesda, Maryland, United States, 20892 | |
Contact: For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR) 800-411-1222 ext TTY8664111010 prpl@cc.nih.gov |
Principal Investigator: | Joanna Klubo-Gwiezdzinska, M.D. | National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) |
Publications:
Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
Responsible Party: | National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) |
ClinicalTrials.gov Identifier: | NCT01109420 |
Other Study ID Numbers: |
100102 10-DK-0102 |
First Posted: | April 23, 2010 Key Record Dates |
Last Update Posted: | May 16, 2022 |
Last Verified: | March 17, 2022 |
Studies a U.S. FDA-regulated Drug Product: | No |
Studies a U.S. FDA-regulated Device Product: | No |
Hereditary Cancer Susceptibility Gene(s) for Thyroid Cancer Screening at Risk Family Members Natural History |
Thyroid Neoplasms Thyroid Cancer, Papillary Thyroid Diseases Endocrine System Diseases Endocrine Gland Neoplasms Neoplasms by Site Neoplasms |
Head and Neck Neoplasms Adenocarcinoma, Papillary Adenocarcinoma Carcinoma Neoplasms, Glandular and Epithelial Neoplasms by Histologic Type |