A Gene Hunting Study for Familial Papillary Thyroid Cancer

October 1, 2025 updated by: Matthew Ringel, Ohio State University Comprehensive Cancer Center

A Strategy to Search for Genes Predisposing to Papillary Carcinoma of the Thyroid When Mutated

The aim of this project is to identify genetic risk factors associated with familial papillary thyroid carcinoma (PTC). Papillary thyroid cancer is a type of cancer that shows high heritability. However, the specific genetic factors that cause an increased risk have been elusive.

Study Overview

Status

Active, not recruiting

Conditions

Detailed Description

The aim of this project is to identify genetic risk factors associated with familial papillary thyroid carcinoma (PTC). This can be accomplished in several ways, including loss of heterozygosity studies as well as comparative gene expression analysis. When possible, linkage analysis on families with multiple individuals affected with PTC may also help identify the putative gene(s).

Study participants will be asked to:

  1. Complete family history and medical history questionnaires
  2. Sign a medical record release so that thyroid cancer pathology reports can be obtained
  3. Supply a blood or saliva sample for genetic studies
  4. Provide study related information to family members who are needed for family studies

Study Type

Observational

Enrollment (Estimated)

1200

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United States
    • Ohio
      • Columbus, Ohio, United States, 43210
        • Ohio State University Comprehensive Cancer Center

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

14 years and older (Adult, Older Adult)

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

Families with at least 4 living individuals with a diagnosis of papillary thyroid carcinoma

Description

Inclusion Criteria:

  • Patients with a diagnosis of PTC and a family history of PTC in 3 or more living relatives

  • Affected and unaffected family members of the proband*

    • For familial cases (families with 4 or more cases of PTC), participation will be offered to all living family members with PTC or benign thyroid disease as well as selected unaffected first and second degree relatives. Participation may also be offered to spouses when needed for analyzing parent/offspring samples.

Exclusion Criteria:

  • Known germline predisposition (ex: pathogenic PTEN variant)
  • Non-English speaking

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Genetic variants associated with familial papillary thyroid cancer as assessed by multiple genetic testing methodologies
Time Frame: Up to 5 years
Variants will be assessed for segregation within families, expression in the normal thyroid and/or thyroid cancer, and functional significance
Up to 5 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Ohio State University Comprehensive Cancer Center

Investigators

  • Principal Investigator: Matthew Ringel, MD, Ohio State University Comprehensive Cancer Center

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

August 5, 1998

Primary Completion (Estimated)

December 1, 2026

Study Completion (Estimated)

December 1, 2026

Study Registration Dates

First Submitted

May 12, 2016

First Submitted That Met QC Criteria

May 17, 2016

First Posted (Estimated)

May 19, 2016

Study Record Updates

Last Update Posted (Estimated)

October 3, 2025

Last Update Submitted That Met QC Criteria

October 1, 2025

Last Verified

October 1, 2025

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • OSU-9812

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

Clinical Trials on Thyroid

Search Similar Trials

Sponsors and Collaborators

Medical Conditions

Drug Interventions

CROs by country

CROs in Uruguay

Conditions

Rare Diseases

Drug Interventions

Dietary Supplements

Sponsor/Collaborators

Locations

Subscribe