Pathogenic Variants in Genes Associated With Lung Adenocarcinoma

January 23, 2024 updated by: Oscar Gerardo Arrieta Rodríguez

Prevalence of Pathogenic or Likely Pathogenic Germline Variants in Cancer Predisposition Genes Among Patients With Lung Adenocarcinoma

The goal of this observational study is to describe the prevalence of germ line-pathogenic variants in Mexican patients with lung adenocarcinoma.

The main questions it aims to answer are:

  1. What is the prevalence of pathogenic variants in genes associated with lung adenocarcinoma in Mexican patients younger than fifty?
  2. Which clinical-pathological characteristics are associated with germ-line pathogenic variants in patients with lung adenocarcinoma?
  3. How actionable somatic mutations are associated with germ line-pathogenic variants of patients with lung adenocarcinoma?

Participants will be asked to sign an informed consent; after that, they will be instructed to donate 10 ml of peripheral blood by venipuncture in the morning and before the patient has taken morning medication and the first meal, following a period of 8-12 hr fasting.

Study Overview

Status

Recruiting

Conditions

Detailed Description

This is an observational, descriptive, and longitudinal study.

The sample size was calculated with a proportion difference formula for a known population, considering the Local Institutional Personalized Medicine Laboratory tests 100 blood samples per year from patients with non-small cell lung cancer (NSCLC). It was considered a 95% confidence level and an 80% power. In addition, a 10% loss in follow-up was estimated.

After reviewing the inclusion and exclusion criteria, signing the informed consent, and peripheral blood sampling. Total DNA (tDNA) will be extracted using the DNAeasy Blood & Tissue (Qiagen) kit.

Likewise, for the determination of pathogenic variants, the Sophia HCS Community panels (Sophia genetics) will be used to carry out Next-generation (NGS) sequencing in a NextSeq 550 (Illumina) platform.

To determine the clinical significance of genomic variants, the data analysis will be performed on the SOPHiA Alamut™ Visual Plus which is a comprehensive, full genome browser for efficient and user-friendly variant interpretation.

Study Type

Observational

Enrollment (Estimated)

332

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

  • Name: Oscar G Arrieta Rodriguez, M.D., M.Sc.
  • Phone Number: 71101 5556280400
  • Email: ogar@unam.mx

Study Locations

  • Mexico
      • Mexico City, Mexico, 14080
        • Recruiting
        • Thoracic Oncology Unit and Personalized Medicine Laboratory, Instituto Nacional de Cancerología
        • Contact:
          • Oscar G Arrieta Rodriguez, M.D., M.Sc.
          • Phone Number: 71101 5556280400
          • Email: ogar@unam.mx

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

Patients with lung adenocarcinoma treated in the Thoracic Oncology Unit of the National Institute of Cancer.

Description

Inclusion Criteria:

  • Both sexes
  • ≥ 16 years old, according the institutional protocols for new patients admittances.
  • histologically confirmed lung adenocarcinoma (LUAD)
  • Signed written informed consent form
  • A life expectancy greater than 8 weeks.
  • Histologically confirmed LUAD and one of the following conditions: i) LCFH, defined as having one first-degree relative (FDR) or two or more second-degree relatives with LC, irrespective of the age at diagnosis. ii) Age at diagnosis ≤50 years, or ≤60 with a pack-years index. iii) Presence of ≥1 AGAs (EGFR, ALK, ROS1, KRAS, BRAF, MET exon 14 skipping, or RET).

Exclusion Criteria:

  • A sample of peripheral blood that is not accessible.
  • Insufficient clinical pathological information in the electronic clinical record.

Elimination Criteria:

  • Withdrawal
  • Insufficient DNA quality and quantity for genomic sequencing analyses.
  • Lost of follow up

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
PV in patients with lung carcinoma
Time Frame: One peripherial blood sample (day 1) at baseline of study.
To determine the prevalence of pathogenic variants (PV) in patients with lung adenocarcinoma through amplicon next-generation sequencing (NGS).
One peripherial blood sample (day 1) at baseline of study.

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
OS
Time Frame: From date of confirmed diagnosis until the date of first documented progression or date of death from any cause, whichever came first, assessed up to 24 months
To evaluate the prognostic impact of the pathogenic variants (PV) in the overall survival (OS) of patients with lung carcinoma.
From date of confirmed diagnosis until the date of first documented progression or date of death from any cause, whichever came first, assessed up to 24 months
PFS
Time Frame: From date of first line of treatment initiation (guided therapy) until the date of first documented progression or date of death from any cause, whichever came first, assessed up to 12 months
To evaluate the prognostic impact of the pathogenic variants (PV) in the progression free survival (PFS) of patients with lung carcinoma.
From date of first line of treatment initiation (guided therapy) until the date of first documented progression or date of death from any cause, whichever came first, assessed up to 12 months

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Oscar Gerardo Arrieta Rodríguez

Investigators

  • Principal Investigator: Oscar G Arrieta Rodriguez, M.D., M.Sc., Instituto Nacional De Cancerologia de Mexico

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

December 15, 2022

Primary Completion (Estimated)

December 15, 2024

Study Completion (Estimated)

December 15, 2025

Study Registration Dates

First Submitted

December 13, 2023

First Submitted That Met QC Criteria

December 13, 2023

First Posted (Actual)

December 26, 2023

Study Record Updates

Last Update Posted (Estimated)

January 24, 2024

Last Update Submitted That Met QC Criteria

January 23, 2024

Last Verified

January 1, 2024

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • (022/056/ICI)(CEI/057/22)

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

Clinical Trials on Lung Adenocarcinoma

Search Similar Trials

Sponsors and Collaborators

Medical Conditions

Drug Interventions

CROs by country

CROs in Rwanda

Conditions

Rare Diseases

Drug Interventions

Dietary Supplements

Sponsor/Collaborators

Locations

3
Subscribe