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: January 27, 2023
• 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) )

Study Description

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.

Condition or disease
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 Design

• Study Type: Observational
• Estimated Enrollment: 500 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

Groups and Cohorts

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

Outcome Measures

Primary Outcome Measures :

1. To evaluate the natural history of FNMTC [ Time Frame: end of study ]
   Evaluation the natural history of FNMTC

Eligibility Criteria

• Ages Eligible for Study: 7 Years and older (Child, Adult, Older Adult)
• Sexes Eligible for Study: All
• 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.)

Criteria

• 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.

Contacts and Locations

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

Locations

United States, Maryland

National Institutes of Health Clinical Center; 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 TTY dial 711 ccopr@nih.gov

Sponsors and Collaborators

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)

More Information

Additional Information:

NIH Clinical Center Detailed Web Page 

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.

Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):

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.

• 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
• Last Update Posted: January 27, 2023
• Last Verified: January 25, 2023

Individual Participant Data (IPD) Sharing Statement:

• Plan to Share IPD: No
• Plan Description: .Subject level data will be shared upon request after appropriate collaboration agreements are in place.

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

Keywords provided by National Institutes of Health Clinical Center (CC) ( National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) ):

Hereditary Cancer; Susceptibility Gene(s) for Thyroid Cancer; Screening at Risk Family Members; Natural History

Additional relevant MeSH terms:

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