Cohort of Tumors With POLE/D1 Mutation

Tumors Clinical Trial

Official title:

Multicenter Prospective Cohort of Tumors With Pole/D1 Mutation

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT05103969
• Other study ID #: POLE COHORT
• Status: Recruiting
• Start date: October 5, 2021
• Est. completion date: October 6, 2027

Study information

• Verified date: October 2021
• Source: Federation Francophone de Cancerologie Digestive
• Contact: ROSINE GUIMBAUD, PhD.MD
• Phone: +33 (0)5 61 32 21 42
• Email: guimbaud.r[@]chu-toulouse.fr
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

Primary objective of this study is to identify and describe the clinico-biological and molecular characteristics of tumors with somatic POLE (Polymerase ɛ)/POLD1 mutation identified by molecular biology platforms for all stages and primary sites combined

Description:

The identification of patients to be included will be done directly from the tumor genotyping platforms.

Indeed, they will be the direct source of the identification of all POLE (Polymerase ɛ) mutations.

The platforms will inform the project coordination unit of new cases of mutated cancers as well as the referent investigator, jointly they will be in charge of data entry.

The diagnostic and follow-up data of each patient will be collected prospectively.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 100
• Est. completion date: October 6, 2027
• Est. primary completion date: October 6, 2027
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years and older

Eligibility

Inclusion Criteria:

• Any tumor presenting a variant of the exonuclease domain of POLE (exons 9 to 14) classified as pathogenic by the project working group, including: the 4 hotspots of mutations described (codons 286 (P286R/H/L), 411 (V411L), 459 (S459F), 424 (L424/V/I), (2).

• Any tumor presenting a variant of the exonuclease domain of PolD1 (exons 8-12), classified as pathogenic by the project working group, including : C319Y(10).

Diagnosis made from the date of launch of the cohort and in the previous year

-Age = 18 years

Exclusion Criteria:

• Tumor without POLE or POLD1 mutation

• Tumor with POLE mutation identified in research studies retrospective research

• Opposition of the patient to the registration of his data in the cohort

Related Conditions & MeSH terms

• POLD1 Gene Mutation
• Tumors

Locations

Country	Name	City	State
France	CHU -hopital Rangeuil	Toulouse

Sponsors (1)

Lead Sponsor	Collaborator
Federation Francophone de Cancerologie Digestive

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	To identify and describe the clinico-biological and molecular characteristics of tumors with somatic POLE/POLD1 mutation identified by molecular biology platforms for all stages and primary sites	Collection and description of clinical and histo-pathological data of tumors with POLE/POLD1 mutation	October 2027
Primary	Molecular characterization of the identified POLE/POLD1 mutations	Molecular characterization of the identified POLE/POLD1 mutations and of the mutational profile associated with these mutations	October 2027
Primary	Overall survival and response to treatments	Analysis of overall survival and response to treatments (chemotherapies, immunotherapies...)	October 2027
Secondary	database and block librabry	Establishment of a database of somatic POLE variants Establishment of a block library of POLE mutated tumors	October 2027