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
- Name: Angeline GINZAC COUVÉ
- Phone Number: +33 0473278005
- Email: angeline.ginzac@clermont.unicancer.fr
Study Locations
-
-
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.
|
For each patient included:
|
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:
Variants will be interpreted using various databases and prediction tools:
|
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
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.
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
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.