Bronchopulmonary CancersEGFRenchNCT06562491
Phenotypes Associated With Constitutional EGFR Pathogenic Variants
An observational study of Bronchopulmonary Cancers and Constitutional EGFR, run by Assistance Publique - Hôpitaux de Paris.
Trial summary
A small proportion of lung cancers are hereditary, i.e. caused by a constitutional pathogenic variant (PV). EGFR " Epidermal Growth Factor Receptor " is a major cancer predisposing gene, mainly via the T790M variant. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Bronchopulmonary Cancers, Constitutional EGFR
- How many people
- 25 participants
- Where
- No sites listed yet
- Study dates
- Sep 2025to Sep 2025
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- Adult, Older adult
Study population: Carrier of a constitutional pathogenic variant of the EGFR gene
Who may be able to join
- Age ≥ 18 ans
- Carrier of a constitutional pathogenic variant of the EGFR gene
- Social security beneficiary, excluding AME
Who cannot join
- Guardianship or curatorship
- Opposition to the use of data
Trial locations and contacts
No sites are listed yet.
About this study
A small proportion of lung cancers are hereditary, i.e. 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, e.g. mean/median age, proportion and type of somatic changes, prevalence of smoking will be done.
Read the 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 (TKIs).EGFR 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, i.e, 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 cohort's characeristics, e.g. mean/median age, proportion and type of somatic changes, prevalence of smoking in order to better characterize the phenotypes associated with EGFR.
- Conditions
- Bronchopulmonary Cancers, Constitutional EGFR
- Keywords
- Phenotypes, constitutional, EGFR
What is being measured
The primary outcome is the main question the study is designed to answer.
average/median, proportion and type of somatic disorders, prevalence of smoking
Measured: Through out study 12 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted20 Aug 2024
- Study startSep 2025 (estimated)
- Primary completionSep 2025 (estimated)
- Study completionSep 2025 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Bronchopulmonary CancersStudies of the same condition, open and under way.
- More trials run by Assistance Publique - Hôpitaux de ParisThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Retrospective
- Enrolment
- 25 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Assistance Publique - Hôpitaux de Paris
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06562491
- Sponsor's protocol ID
- APHP240782
- Acronym
- EGFRench
- Status last verified
- Jul 2024
- First submitted
- 19 Jul 2024
- Last updated
- 3 Jul 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: The procedures carried out with the French data privacy authority (CNIL) do not provide for the transmission of the database, nor do the information and consent documents signed by the patients. Consultation by the editorial board or interested researchers of individual participant data that underlie the results reported in the article after deidentification may nevertheless be considered, subject to prior determination of the terms and conditions of such consultation and in respect for compliance with the applicable regulations.
Study at a glance
From the registry record, last updated by the sponsor on 3 Jul 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Phenotypes Associated With Constitutional EGFR Pathogenic Variants
- ClinicalTrials.gov ID
- NCT06562491
- Acronym / sponsor ID
- EGFRench / APHP240782
- Conditions
- Bronchopulmonary Cancers, Constitutional EGFR
- Keywords
- Phenotypes, constitutional, EGFR
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 25 participants (estimated)
- Lead sponsor
- Assistance Publique - Hôpitaux de ParisUniversity, hospital or other
- Study start
- Sep 2025 (estimated)
- Primary completion
- Sep 2025 (estimated)
- Study completion
- Sep 2025 (estimated)
- First posted
- 20 Aug 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
A small proportion of lung cancers are hereditary, i.e. 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, e.g. mean/median 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 (TKIs).EGFR 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, i.e, 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 cohort's characeristics, e.g. mean/median age, proportion and type of somatic changes, prevalence of smoking in order to better characterize the phenotypes associated with EGFR.
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Age groups
- Adult, Older adult
- Study population
- Carrier of a constitutional pathogenic variant of the EGFR gene
Key inclusion criteria (3 listed)
- Age ≥ 18 ans
- Carrier of a constitutional pathogenic variant of the EGFR gene
- Social security beneficiary, excluding AME
Key exclusion criteria (2 listed)
- Guardianship or curatorship
- Opposition to the use of data
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
average/median, proportion and type of somatic disorders, prevalence of smoking
Time frame: Through out study 12 months
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 3 Jul 2025.
- Individual participant dataSharing planned: Yes. The procedures carried out with the French data privacy authority (CNIL) do not provide for the transmission of the database, nor do the information and consent documents signed by the patients. Consultation by the editorial board or interested researchers of individual participant data that underlie the results reported in the article after deidentification may nevertheless be considered, subject to prior determination of the terms and conditions of such consultation and in respect for compliance with the applicable regulations.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Questions about this trial
What is this clinical trial studying?
An observational study of Bronchopulmonary Cancers and Constitutional EGFR, run by Assistance Publique - Hôpitaux de Paris.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 3 Jul 2025. Status can change between updates, so confirm with the study contact before making plans.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Patrick BENUSIGLIO, Dr (01.42.17.76.59, patrick.benusiglio@aphp.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
average/median, proportion and type of somatic disorders, prevalence of smoking (time frame: Through out study 12 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 3 Jul 2025.