IDEntification of New Predisposition Genes in Differentiated THYroid Cancer

Not Applicable

Active, not recruiting

• Conditions: Differentiated Thyroid Cancer; Thyroid Cancer, Nonmedullary
• Interventions: Genetic: WGS

• Registration Number: NCT05014698
• Lead Sponsor: Nantes University Hospital

Brief Summary

The purpose of this research is to find new predisposition genes for differentiated thyroid cancer (DTC).

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 Timeline

• Study First Submitted: 2021-08-05
• Study First Submitted QC: 2021-08-13
• Study First Posted: 2021-08-20
• Study Start: 2022-02-23
• Status Verified: 2024-06
• Last Update Submitted: 2024-06-07
• Last Update Posted: 2024-06-10
• Primary Completion: 2026-02
• Study Completion: 2026-02

Recruitment & Eligibility

• Status: ACTIVE_NOT_RECRUITING
• Sex: All
• Target Recruitment: 34

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 & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Arm && Interventions

Group	Intervention	Description
WGS	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

Primary Outcome Measures

Name	Time	Method
Type and Number of genetic variants associated with or causing the development of differentiated thyroid cancer	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

Secondary Outcome Measures

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

Trial Locations

Locations (2)

Vendée Hospital; 🇫🇷 La Roche-sur-Yon, France

Nantes University Hospital; 🇫🇷 Nantes, France