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NCT Number: NCT05103969

Cohort of Tumors With POLE/D1 Mutation

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

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Key information

Conditions

Tumors Neoplasms POLD1 Gene Mutation POLE Exonuclease Domain Mutation

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

  1. 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

    Time frame: October 2027

    Collection and description of clinical and histo-pathological data of tumors with POLE/POLD1 mutation

  2. Molecular characterization of the identified POLE/POLD1 mutations

    Time frame: October 2027

    Molecular characterization of the identified POLE/POLD1 mutations and of the mutational profile associated with these mutations

  3. Overall survival and response to treatments

    Time frame: October 2027

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

Secondary outcomes

  1. database and block librabry

    Time frame: October 2027

    Establishment of a database of somatic POLE variants Establishment of a block library of POLE mutated tumors

Study contacts

Contact information is provided by the study sponsor or research team.

ROSINE GUIMBAUD, PhD.MD

CONTACT

[email protected]

+33 (0)5 61 32 21 42

Sponsors and collaborators

Lead sponsor

Federation Francophone de Cancerologie Digestive

Other

Registry information

Official study title

Multicenter Prospective Cohort of Tumors With Pole/D1 Mutation

Important dates

Study start
2021
Primary completion
2025
Study completion
2025
First posted
Nov 2, 2021
Registry last updated
Jul 8, 2024

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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