Cohort of Tumors With POLE/D1 Mutation

NCT05103969 | Recruiting

• 1 other identifier: POLE COHORT
• Study Type: observational
• Target: 100
• Locations: 1 country
• Sites: 1

Brief 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

Conditions

Tumors; POLE Exonuclease Domain Mutation; POLD1 Gene Mutation

Outcome Measures

Primary Outcomes (3)

• 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

• 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

• Overall survival and response to treatments

  Analysis of overall survival and response to treatments (chemotherapies, immunotherapies...)

  October 2027

Secondary Outcomes (1)

• database and block librabry

  October 2027

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

\- Patient with a histologically proven tumor with a POLE or POLD1 mutation identified by molecular biology analysis, carried out within the framework of clinical practice in the platforms that have set up this research.

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• Federation Francophone de Cancerologie Digestive: lead

Study Sites (1)

CHU -hopital Rangeuil

Toulouse, 31059, France

RECRUITING

Biospecimen

Retention: SAMPLES WITHOUT DNA

blocks of tumor removed in the course of care fixed tissue.

MeSH Terms

Conditions

Neoplasms

Study Officials

• Rosine GUIMBAUD, PhD.MD

  Fédération francophone de Cancérologie digestive

  PRINCIPAL INVESTIGATOR

Central Study Contacts

ROSINE GUIMBAUD, PhD.MD

CONTACT

+33 (0)5 61 32 21 42; guimbaud.r@chu-toulouse.fr

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: October 6, 2021
• First Posted: November 2, 2021
• Study Start: October 5, 2021
• Primary Completion: October 6, 2025
• Study Completion: October 6, 2025
• Last Updated: July 8, 2024

Record last verified: 2024-07

Locations

FR (1)