IDEntification of New Predisposition Genes in Differentiated THYroid Cancer (IDENTHY-K)

January 26, 2026 updated by: Nantes University Hospital
The purpose of this research is to find new predisposition genes for differentiated thyroid cancer (DTC).

Study Overview

Status

Terminated

Intervention / Treatment

Detailed Description

The purpose of this research is to find new predisposition genes for differentiated thyroid cancer (DTC). Therefore, in the absence of a BAP1 and DICER1 abnormality, we offer to sequence your whole genome (WGS) or partial genome (genotyping) for a previously unknown genetic abnormality.

Furthermore, the discovery of new genes would be a major medical advance that could contribute to the identification of new therapeutic targets.

This research will be conducted at the University Hospital of Nantes and the Hospital of Vendée and 95 people should participate.

Study Type

Interventional

Enrollment (Actual)

34

Phase

  • Not Applicable

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

      • La Roche-sur-Yon, France
        • Vendée Hospital
      • Nantes, France, 44093
        • Nantes University Hospital

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

4 years and older (Child, Adult, Older Adult)

Accepts Healthy Volunteers

Yes

Description

Inclusion Criteria:

  • Probant subjects
  • Minor or adult subject
  • Adult subject or legal guardian for minor subjects agreeing to sign the study consent and biospecimen consent
  • Subject with differentiated thyroid cancer without an identified causative mutation in the BAP1 and DICER 1 predisposition genes
  • Patient affiliated to a valid social security plan

Relative subjects

  • Adult subjects
  • Subject agreeing to sign the study consent and the biocollection consent
  • Subject with differentiated thyroid cancer or from a family with several cases of differentiated thyroid cancer without a causal mutation identified in the BAP1 and DICER 1 predisposition genes
  • Patient affiliated to a social security plan

Exclusion Criteria:

  • Subject refusing to participate
  • Subjects with a causal mutation identified in the predisposition genes: BAP1 and DICER 1
  • Subjects under guardianship, curatorship or safeguard of justice or not socially insured
  • Subjects with another syndromic predisposition to thyroid cancer (Cowden, Werner, PAF)

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

  • Primary Purpose: Diagnostic
  • Allocation: N/A
  • Interventional Model: Single Group Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
Experimental: WGS

at inclusion visit :

- Blood collection for whole Genome sequencing will be performed

At final visit :

the results of the WGS will be delivered to patients

Whole Genome sequencing

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Type and Number of genetic variants associated with or causing the development of differentiated thyroid cancer
Time Frame: within 2 years
To be achieved by a whole genome sequencing (WGS) approach in a familial analysis of patients with differentiated thyroid cancer. In addition, high-throughput genotyping of multiple individuals in each family will allow complementary detection of genomic regions that are shared only by affected subjects
within 2 years

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Number of phenotypes associated to genotypes of CDT
Time Frame: within 2 years
By studying the association between the clinical characteristics of patients and the identified genetic variants
within 2 years
Analysis of birthplace/family origin information
Time Frame: within 2 years
Definition of the spatial location of family forms of CDT and to identify possible founding effects
within 2 years

Collaborators and Investigators

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

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)

February 23, 2022

Primary Completion (Actual)

January 13, 2026

Study Completion (Actual)

January 13, 2026

Study Registration Dates

First Submitted

August 5, 2021

First Submitted That Met QC Criteria

August 13, 2021

First Posted (Actual)

August 20, 2021

Study Record Updates

Last Update Posted (Actual)

January 28, 2026

Last Update Submitted That Met QC Criteria

January 26, 2026

Last Verified

January 1, 2026

More Information

Terms related to this study

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

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.

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