Clinical and Genetic Studies in Familial Non-medullary Thyroid Cancer

Sponsor

National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) (NIH)

Overall Status

Recruiting

CT.gov ID

NCT01109420

Collaborator

(none)

300

Enrollment

Location

Study Details

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	Intervention/Treatment	Phase
Non-Medullary Thyroid Cancer

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)

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 Design

Study Type:

Observational

Anticipated 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 :

Aug 12, 2010

Arms and Interventions

Arm	Intervention/Treatment
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

To evaluate the natural history of FNMTC [20 years]
Evaluation the natural history of FNMTC

Eligibility Criteria

Criteria

Ages Eligible for Study:

7 Years and Older

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

Yes

INCLUSION CRITERIA:

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.)

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.)