Clinical and Genetic Studies in Familial Non-medullary Thyroid Cancer

Clinical and Genetic Studies in Familial Non-Medullary Thyroid Cancer

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.

Study Overview

• Status: Recruiting
• Conditions: Non-Medullary Thyroid Cancer

Detailed Description

Study Description:

This is a prospective cohort study of individuals with or at risk for non-medullary thyroid cancer. Individuals will be studied over time within the context of their families in order to quantify prospective risks of cancers in family members, to establish the natural history of FNMTC, define the spectrum of diseases within the families, to identify precursor states, to try to assess the contribution of genetic and environmental components of risk, and to develop effective screening strategies.

Objectives:

1. To evaluate the natural history of familial non-medullary thyroid cancer (FNMTC).
2. To determine the best screening strategy for FNMTC.
3. To identify susceptibility gene(s) for FNMTC.

Endpoints:

Not applicable

• Study Type: Observational
• Enrollment (Estimated): 500

Contacts and Locations

• Study Contact: Name: Joanna Klubo-Gwiezdzinska, M.D.; Phone Number: (301) 496-5052; Email: joanna.klubo-gwiezdzinska@nih.gov
• Study Contact Backup: Name: Padmasree Veeraraghavan, N.P.; Phone Number: (301) 451-7710; Email: ncieobinquiry@mail.nih.gov

Study Locations

• United States
  • Maryland
    • Bethesda, Maryland, United States, 20892
      • Recruiting
      • National Institutes of Health Clinical Center
      • Contact: For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR); Phone Number: TTY dial 711 800-411-1222; Email: ccopr@nih.gov

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 7 years and older (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No

• 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 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.)

Description

• INCLUSION CRITERIA:

Subjects will be selected for this protocol based on either a clinical diagnosis of non-medullary thyroid cancer and the presence of one family member with the disease or the presence of 2 living family members with this disease. Patient selection for this protocol will not be based on gender, race, or ethnic background.

In order to be eligible to participate in this study, an individual must meet all of the following criteria:

• Adults or minor (>= 7 years+), males and females.
• An unaffected individual with (Bullet) 2 first-degree relatives who have or have had nonmedullary thyroid cancer

OR

-An affected individual with documented diagnosis of non-medullary thyroid cancer and (Bullet) 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.)
• Adults must be able to understand and the willingness to sign the informed consent document.
• Adults must be able to complete the family history questionnaire.

EXCLUSION CRITERIA:

An individual who meets any of the following criteria will be not be allowed to enroll in this study:

-Subjects unwilling/unable to give informed consent.

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

Number of groups / cohorts

2

Cohorts and Interventions

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

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
To evaluate the natural history of FNMTC	Evaluation the natural history of FNMTC	end of study

Collaborators and Investigators

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

Publications and helpful links

General 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.
• 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.

Helpful Links

• NIH Clinical Center Detailed Web Page

Study record dates

Study Major Dates

• Study Start (Actual): August 12, 2010

Study Registration Dates

• First Submitted: April 22, 2010
• First Submitted That Met QC Criteria: April 22, 2010
• First Posted (Estimated): April 23, 2010

Study Record Updates

• Last Update Posted (Actual): March 29, 2024
• Last Update Submitted That Met QC Criteria: March 28, 2024
• Last Verified: February 28, 2024

More Information

Terms related to this study

• Keywords: Natural History; Hereditary Cancer; Susceptibility Gene(s) for Thyroid Cancer; Screening at Risk Family Members
• Additional Relevant MeSH Terms: Neoplasms by Histologic Type; Neoplasms; Neoplasms by Site; Adenocarcinoma; Carcinoma; Neoplasms, Glandular and Epithelial; Endocrine System Diseases; Endocrine Gland Neoplasms; Head and Neck Neoplasms; Adenocarcinoma, Papillary; Thyroid Diseases; Thyroid Neoplasms; Thyroid Cancer, Papillary
• Other Study ID Numbers: 100102; 10-DK-0102

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO
• IPD Plan Description: .Subject level data will be shared upon request after appropriate collaboration agreements are in place.

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No