Identification of New Candidate Genes for Hereditary Predisposition to Uveal Melanoma (IGCMU)

March 17, 2026 updated by: Centre Jean Perrin
Only 20% of familial uveal melanomas are explained by a hereditary predisposition, implying the presence of as yet unknown hereditary predispositions. This hypothesis is reinforced by epidemiological studies revealing an excess risk of prostate cancer, thyroid cancer and leukemia in patients who have developed uveal melanoma, even though these cancers are not part of the tumor spectrum of known hereditary predispositions to uveal melanoma (BAP1, MBD4). The identification of new candidate genes, once validated, would enable us to offer these families appropriate surveillance.

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

Study Type

Interventional

Enrollment (Estimated)

50

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 Contact

Study Locations

  • France
    • Puy-de-Dôme
      • Clermont-Ferrand, Puy-de-Dôme, France, 63011
        • Recruiting
        • Centre Jean Perrin
        • Contact:
          • Angeline GINZAC COUVÉ
        • Principal Investigator:
          • Mathis LEPAGE, DR
        • Sub-Investigator:
          • Xavier DURANDO, Pr
        • Sub-Investigator:
          • Mathilde GAY-BELLILE, Dr
        • Sub-Investigator:
          • Mathias CAVAILLÉ, Dr

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

  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Description

Inclusion Criteria:

  • Patient with a personal history of uveal melanoma (newly diagnosed, under treatment or in follow-up)
  • Enrolled in or benefiting from a social security scheme

Exclusion Criteria:

  • Causal pathogenic variation identified in BAP1 or MBD4
  • Patient does not consent to constitutional genetic analysis for diagnostic purposes
  • Patient not consenting to a constitutional genetic analysis for research purposes
  • Pregnant and breast-feeding women
  • Patients under guardianship or trusteeship

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: Prevention
  • Allocation: N/A
  • Interventional Model: Single Group Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
Experimental: constitutional genetic analysis
Constitutional genetic exome analysis will be performed on the blood sample. If necessary, an analysis on a second independent sample (jugal smear) will be carried out if a probably pathogenic or pathogenic variant in a hereditary cancer predisposition gene is identified.
Genetic: Constitutional exome analysis

For each patient included:

  • A family tree is drawn up, reporting personal and family histories of cancer. The patient's anatomopathological reports, related to his or her tumor lesions, are retrieved, in order to confirm/clarify individual or family diagnoses.
  • A blood sample and a jugal smear are taken to enable constitutional genetic exome analysis for research purposes.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Identify new candidate genes for hereditary cancer predisposition in patients with uveal melanoma by constitutional exome analysis
Time Frame: At baseline

Variants of interest are selected from the data using the following filter:

  • Variant with frequency < 1% (GnomAD)
  • Shared by at least 2 sufferers in the cohort
  • Truncating (nonsense, with frame shift, on a canonical splice site -2, -1 and +1 +2)
  • Missense from a list of "cancer" genes and Combined Annotation Dependent Depletion (CADD) score > 20 (COSMIC Tier1 and Tier2)

Variants will be interpreted using various databases and prediction tools:

  • Functions: genecards, pubmed, uniprot
  • Expression profiles: cbioportal, GEPIA
  • For splice variants: CADD, Splice AI
  • For exonic variants: CADD, SIFT, Polyphene
At baseline

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Explore genes known to be involved in other cancer predisposition already described in the occurrence of uveal melanoma, but whose association has not yet been established with certainty.
Time Frame: At baseline
Number of patients with a mutation on BRCA1, BRCA2, CHEK2, PALB2, POT1, MSH6 or MLH1
At baseline

Collaborators and Investigators

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

Sponsor

Centre Jean Perrin

Collaborators

Association Nationale des Patients atteints de cancers de l'oeil (A.N.P.A.C.O.)

Investigators

  • Principal Investigator: Mathis LEPAGE, Dr, Centre Jean Perrin

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)

October 29, 2024

Primary Completion (Estimated)

April 1, 2028

Study Completion (Estimated)

April 1, 2028

Study Registration Dates

First Submitted

August 5, 2024

First Submitted That Met QC Criteria

August 8, 2024

First Posted (Actual)

August 13, 2024

Study Record Updates

Last Update Posted (Actual)

March 19, 2026

Last Update Submitted That Met QC Criteria

March 17, 2026

Last Verified

March 1, 2026

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 2024-A00030-47

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

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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