Ignite Creation Date:
2024-10-26 @ 3:38 PM
Last Modification Date:
2024-10-26 @ 3:38 PM
Study NCT ID:
NCT06562491
Status:
NOT_YET_RECRUITING
Last Update Posted:
None
First Post:
2024-07-19
Brief Title:
Phenotypes Associated With Constitutional EGFR Pathogenic Variants
Sponsor:
None
Organization:
None
Study Overview
Official Title:
Phenotypes Associated With Constitutional EGFR Pathogenic Variants
Status:
NOT_YET_RECRUITING
Status Verified Date:
2024-07
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
No
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
EGFRench
Brief Summary:
A small proportion of lung cancers are hereditary ie caused by a constitutional pathogenic variant PV EGFR Epidermal Growth Factor Receptor is a major cancer predisposing gene mainly via the T790M variant The study aims to collect French national data on EGFR pathogenic variant carriers affected and unaffected in order to better characterise the associated phenotypes
A retrospective multicenter cohort study will be carried out The study aims to include 20 to 25 patients identified as EGFR pathogenic variant carriers between 2018 and 2024 Data will be gathered from either paper or electronic patient files from the Oncogenetics clinics or laboratory Eligible patients will be informed and given a possibility to opt out Of note all previously signed a consent form for genetic testing Each participating centre will be responsible for transcribing the pseudonymised data from its patients medical records into a secure Excel file unique to each centre The anonymized data obtained from the patient files will be electronically stored in a secure document accessible only to the principal investigator and a maximum of two close collaborators involved in the study Data will be sent by participating centres to investigators from the Medical Genetics Department at APHP Sorbonne via the secure national RENATER platform for analysis
A Simple description of the cohort eg meanmedian age proportion and type of somatic changes prevalence of smoking will be done
A retrospective multicenter cohort study will be carried out The study aims to include 20 to 25 patients identified as EGFR pathogenic variant carriers between 2018 and 2024 Data will be gathered from either paper or electronic patient files from the Oncogenetics clinics or laboratory Eligible patients will be informed and given a possibility to opt out Of note all previously signed a consent form for genetic testing Each participating centre will be responsible for transcribing the pseudonymised data from its patients medical records into a secure Excel file unique to each centre The anonymized data obtained from the patient files will be electronically stored in a secure document accessible only to the principal investigator and a maximum of two close collaborators involved in the study Data will be sent by participating centres to investigators from the Medical Genetics Department at APHP Sorbonne via the secure national RENATER platform for analysis
A Simple description of the cohort eg meanmedian age proportion and type of somatic changes prevalence of smoking will be done
Detailed Description:
A small proportion of lung cancers particularly adenocarcinomas is hereditary Hereditary lung cancers occur in individuals with a genetic predisposition to the disease It is important to remember that a proportion of non-small cell lung cancers develop in never smokers illustrating the importance of other risk factors such as pollution radon or genetic factors The overall proportion of hereditary lung adenocarcinomas is low probably around 1 On a French national scale this still represents a few hundred cases per year
EGFR is now an established susceptibility gene EGFR variants are best known as somatic variants as markers of sensitivity or resistance to tyrosine kinase inhibitors TKIsEGFR T790M in particular is usually an acquired variant seen in patients exposed to 1st and 2nd-generation tirosine kinase inihibitors erlotinib gefitinib afatinib But it is also sometimes constitutional in which case it is somatically observed at diagnosis when the patient has not be prescribed a TKI yet Our research aims to gather data on French EGFR pathogenic variant carriers ie index cases and relatives affected and unaffected and to describe the related phenotypes
A retrospective multicenter cohort study will be carried out The study aims to include 20 to 25 EGFR pathogenic variant carriers identified as such between 2018 and 2024 Data will be gathered from either paper or electronic patient files from the Oncogenetics clinic or laboratory Eligible patients will be informed and given a possibility to opt out in conformity with French legal requirements Of note all previously signed a consent form for genetic testing Each participating centre will be responsible for transcribing the pseudonymised data from its patients medical records into a secure Excel file unique to each centre The anonymized data obtained from the patient files will be electronically stored in a secure document accessible only to the principal investigator and a maximum of two close collaborators involved in the study Data will be sent by participating centres to investigators from the Medical Genetics Department at APHP Sorbonne via the secure national RENATER platform
Descriptive statistics will be done to describe the cohorts characeristics eg meanmedian age proportion and type of somatic changes prevalence of smoking in order to better characterize the phenotypes associated with EGFR
EGFR is now an established susceptibility gene EGFR variants are best known as somatic variants as markers of sensitivity or resistance to tyrosine kinase inhibitors TKIsEGFR T790M in particular is usually an acquired variant seen in patients exposed to 1st and 2nd-generation tirosine kinase inihibitors erlotinib gefitinib afatinib But it is also sometimes constitutional in which case it is somatically observed at diagnosis when the patient has not be prescribed a TKI yet Our research aims to gather data on French EGFR pathogenic variant carriers ie index cases and relatives affected and unaffected and to describe the related phenotypes
A retrospective multicenter cohort study will be carried out The study aims to include 20 to 25 EGFR pathogenic variant carriers identified as such between 2018 and 2024 Data will be gathered from either paper or electronic patient files from the Oncogenetics clinic or laboratory Eligible patients will be informed and given a possibility to opt out in conformity with French legal requirements Of note all previously signed a consent form for genetic testing Each participating centre will be responsible for transcribing the pseudonymised data from its patients medical records into a secure Excel file unique to each centre The anonymized data obtained from the patient files will be electronically stored in a secure document accessible only to the principal investigator and a maximum of two close collaborators involved in the study Data will be sent by participating centres to investigators from the Medical Genetics Department at APHP Sorbonne via the secure national RENATER platform
Descriptive statistics will be done to describe the cohorts characeristics eg meanmedian age proportion and type of somatic changes prevalence of smoking in order to better characterize the phenotypes associated with EGFR
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None