Liquid Biopsies for the Personalized Management of Patients with Hereditary Diffuse Gastric Cancer (LISA-HDGC)

September 20, 2024 updated by: Assistance Publique - Hôpitaux de Paris

Liquid Biopsies (blood, Gastric Fluid) for the Personalized Management of Patients with Hereditary Diffuse Gastric Cancer: a Pilot Project

Activating somatic mutations and methylation profiles identified by liquid biopsies could identify CDH1 and CTNNA1 pathogenic variants carriers with invasive diffuse gastric cancer undetectable by upper G-I endoscopy.

Study Overview

Status

Completed

Conditions

Intervention / Treatment

Detailed Description

Carriers of germline pathogenic variants in the CDH1 and CTNNA1 genes have the Hereditary Diffuse Gastric Cancer Syndrome. Asymptomatic carriers have at high lifetime risk of diffuse gastric cancer (30-70%). Screening upper gastrointestinal endoscopy, even with multiple random biopsies, misses signet ring cell cancer foci. Invasive cancers can thus go undetected. There is therefore a recommendation of total risk-reducing gastrectomy, at least in carriers with a family history of gastric cancer. Novel screening strategies are needed. In this pilot project, the investigators will perform liquid biopsies of both blood and gastric fluid in asymptomatic carriers who refuse gastrectomy and in controls. The investigators aim to show that somatic mutations in a panel of genes involved in gastric cancer and methylation profiles are detected in a subset of carriers, and not in controls. These could be indicative of invasive cancer undetected by endoscopy, and would thus be a strong argument for risk-reducing gastrectomy. On the contrary, in the absence of somatic mutations in liquid biopsies, endoscopic surveillance could continue.

Study Type

Interventional

Enrollment (Actual)

16

Phase

  • Not Applicable

Contacts and Locations

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

Study Locations

  • France
      • Paris, France, 75013
        • Hopital Pitie Salpetriere

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

18 years and older (Adult, Older Adult)

Accepts Healthy Volunteers

No

Description

Inclusion Criteria:

Case:

  • Patient ≥ 18 years old
  • CDH1 or CTNNA1 germline pathogenic variant.
  • No history of diffuse gastric cancer.
  • French social security.
  • Ability to understand and willingness to sign a written informed consent document.

Volunteers:

  • Patients ≥ 18 years old
  • Patients with no oncological history
  • Patients with macroscopically normal oeso-gastroduodenal fibroscopy
  • French social security.
  • Ability to understand and willingness to sign a written informed consent

Exclusion Criteria: for both arms

  • Patients with cancer being treated
  • Patients with metastatic cancer
  • Medical contraindication to general anesthesia or FOGD (bleeding disorder, pregnant women )
  • Patients under guardianship or curator

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

  • Primary Purpose: Diagnostic
  • Allocation: Non-Randomized
  • Interventional Model: Parallel Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
Experimental: Unaffected carriers of constitutional mutations
Patients with CDH1 or CTNNA1 germline pathogenic variant. No history of diffuse gastric cancer.
Genetic: Liquid biopsies (blood, gastric fluid).
Next generation sequencing of a panel of diffuse gastric cancer genes, methylation analysis. Samples collected during routine screening endoscopy.
Active Comparator: All patients with FOGD
without observation of macroscopic lesions paired with cases (age and sex)
Genetic: Liquid biopsies (blood, gastric fluid).
Next generation sequencing of a panel of diffuse gastric cancer genes, methylation analysis. Samples collected during routine screening endoscopy.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
Number of subjects in whom somatic mutations or methylation profiles are detected.
Time Frame: Over two years of surveillance
Over two years of surveillance

Secondary Outcome Measures

Outcome Measure
Time Frame
Replicability of observations over successive endoscopies. Correlation between blood and gastric fluid.
Time Frame: Over two years of surveillance
Over two years of surveillance

Collaborators and Investigators

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

Sponsor

Assistance Publique - Hôpitaux de Paris

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)

November 26, 2020

Primary Completion (Actual)

April 10, 2024

Study Completion (Actual)

April 10, 2024

Study Registration Dates

First Submitted

January 31, 2020

First Submitted That Met QC Criteria

January 31, 2020

First Posted (Actual)

February 5, 2020

Study Record Updates

Last Update Posted (Actual)

September 23, 2024

Last Update Submitted That Met QC Criteria

September 20, 2024

Last Verified

September 1, 2024

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • APHP190483

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

YES

IPD Plan Description

The procedures carried out with the French data privacy authority (CNIL, Commission nationale de l'informatique et des libertés) 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.

IPD Sharing Time Frame

Beginning 3 months and ending 3 years following article publication. Requests out of these time frame can also be submitted to the sponsor.

IPD Sharing Access Criteria

Researchers who provide a methodologically sound proposal.

IPD Sharing Supporting Information Type

  • STUDY_PROTOCOL
  • ICF

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

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.

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