Clinical and Genetic Studies in Familial Non-medullary Thyroid Cancer

• ClinicalTrials.gov Identifier: NCT01109420
• Recruitment Status: Recruiting
• First Posted: April 23, 2010
• Last Update Posted: July 1, 2022
• Sponsor: National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
• Information provided by (Responsible Party): National Institutes of Health Clinical Center (CC) ( National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) )

Tracking Information

• First Submitted Date: April 22, 2010
• First Posted Date: April 23, 2010
• Last Update Posted Date: July 1, 2022
• Actual Study Start Date: August 12, 2010
• Primary Completion Date: Not Provided

Current Primary Outcome Measures (submitted: May 31, 2018)

To evaluate the natural history of FNMTC [ Time Frame: 20 years ]

Evaluation the natural history of FNMTC

• Original Primary Outcome Measures: Not Provided
• Current Secondary Outcome Measures: Not Provided
• Original Secondary Outcome Measures: Not Provided
• Current Other Pre-specified Outcome Measures: Not Provided
• Original Other Pre-specified Outcome Measures: Not Provided

Descriptive Information

• Brief Title: Clinical and Genetic Studies in Familial Non-medullary Thyroid Cancer
• Official Title: Clinical and Genetic Studies in Familial Non-Medullary Thyroid Cancer

Brief Summary

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.

Detailed Description

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
• Study Design: Observational Model: Cohort; Time Perspective: Prospective
• Target Follow-Up Duration: Not Provided
• Biospecimen: Not Provided
• Sampling Method: Non-Probability Sample
• Study Population: 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 nonmedullary 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.)
• Condition: Non-Medullary Thyroid Cancer
• Intervention: Not Provided

Study Groups/Cohorts

• 1/ Cohort 1
  Affected with non-medullary thyroid cancer
• 2/Cohort 2
  Non-affected members of families with non-medullary thyroid cancer

Publications *

• Chen AY, Jemal A, Ward EM. Increasing incidence of differentiated thyroid cancer in the United States, 1988-2005. Cancer. 2009 Aug 15;115(16):3801-7. doi: 10.1002/cncr.24416.
• Vriens MR, Suh I, Moses W, Kebebew E. Clinical features and genetic predisposition to hereditary nonmedullary thyroid cancer. Thyroid. 2009 Dec;19(12):1343-9. doi: 10.1089/thy.2009.1607. Review.
• Ito Y, Kakudo K, Hirokawa M, Fukushima M, Yabuta T, Tomoda C, Inoue H, Kihara M, Higashiyama T, Uruno T, Takamura Y, Miya A, Kobayashi K, Matsuzuka F, Miyauchi A. Biological behavior and prognosis of familial papillary thyroid carcinoma. Surgery. 2009 Jan;145(1):100-5. doi: 10.1016/j.surg.2008.08.004. Epub 2008 Sep 21.
• Klubo-Gwiezdzinska J, Yang L, Merkel R, Patel D, Nilubol N, Merino MJ, Skarulis M, Sadowski SM, Kebebew E. Results of Screening in Familial Non-Medullary Thyroid Cancer. Thyroid. 2017 Aug;27(8):1017-1024. doi: 10.1089/thy.2016.0668. Epub 2017 Jul 19.

Recruitment Information

• Recruitment Status: Recruiting
• Estimated Enrollment (submitted: April 22, 2010): 300
• Original Estimated Enrollment: Same as current
• Study Completion Date: Not Provided
• Primary Completion Date: Not Provided

Eligibility Criteria

• INCLUSION CRITERIA:

  1. 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.)

  2. 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.

  3. Adults must be able to understand and sign the informed consent document.
  4. Adults must be able to complete the family history questionnaire.

Sex/Gender

• Sexes Eligible for Study: All

• Ages: 7 Years and older (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: Yes

Contacts

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

• Listed Location Countries: United States

Administrative Information

• NCT Number: NCT01109420
• Other Study ID Numbers: 100102; 10-DK-0102
• Has Data Monitoring Committee: Not Provided

U.S. FDA-regulated Product

• Studies a U.S. FDA-regulated Drug Product: No
• Studies a U.S. FDA-regulated Device Product: No

• IPD Sharing Statement: Not Provided
• Current Responsible Party: National Institutes of Health Clinical Center (CC) ( National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) )
• Original Responsible Party: Not Provided
• Current Study Sponsor: National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
• Original Study Sponsor: National Cancer Institute (NCI)
• Collaborators: Not Provided

Investigators

• Principal Investigator: Joanna Klubo-Gwiezdzinska, M.D.; National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)

• PRS Account: National Institutes of Health Clinical Center (CC)
• Verification Date: March 17, 2022