ClinicalTrials.gg
RecruitingNCT06550674IGCMUUpdated Mar 19, 2026

Identification of New Candidate Genes for Hereditary Predisposition to Uveal Melanoma

An interventional study of Constitutional exome analysis in Uveal Melanoma, sponsored by Centre Jean Perrin. Recruiting at 1 site in France. Open to participants aged 18 Years and older. Per ClinicalTrials.gov, last updated 2026-03-19.

Sponsored by Centre Jean Perrin · Not applicable, Interventional, and Prevention

From the registry’s dates

  • Started Oct 2024; still recruiting 2 years later.
Phase
Not applicable
Study type
Interventional
Enrollment
50
Allocation
Not applicable
Ages
18 Years and older
Sex
All
01

Where this study stands

Counted across the records on this site · 2026-11-12

Among 33 studies in Uveal Melanoma with a site in France — 4 open to participants now, 9 under way, 4 of them phase 3. Uveal Melanoma · France.

Planned enrollment
24th of 32
50 · median 95
Started
2024
with 1 other
No phase
10 of 33
2 open now
Registered
32nd of 33
by date
Lead sponsor
1 of 33
Centre Jean Perrin

Among the 33 studies in Uveal Melanoma with a site in France, this one is the 24th largest by planned enrollment of the 32 interventional ones that give a count, is one of 2 that started in 2024, is one of 10 with no phase, and was the 32nd registered.

Uveal Melanoma

281 studies on the registry are indexed under Uveal Melanoma; 50 are open to participants now.

Browse Uveal Melanoma studies →

Open to participants now

4 of the 33 studies in Uveal Melanoma with a site in France are open now. Recruiting first, the newest first:

All 4 open studies →

A study can be open while its sites in France have not opened yet or have stopped. Only those recruiting at a site in France →

Who these studies take

Of the 42 Uveal Melanoma studies recruiting now, 35 (83%) set no upper age limit and 4 (10%) stop at 75 or younger; 3 take children under 18; 1 take healthy volunteers.

This study: 18 Years and older · all sexes · no healthy volunteers.

The full table on the hub →

This tab as a report to print or save as PDF → With an account.

Was this useful?
Watch this landscapeDownload CSVNarrow it in search →With an account: a weekly mail of what changed among 33 studies in Uveal Melanoma with a site in France, or all of them as a file.
02

Study summary

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.

03

Conditions studied

  • Uveal Melanoma

Browse trials for

Keywords

  • uveal melanoma
  • hereditary predisposition
  • candidate genes identification
04

Who can participate

Ages eligible
18 Years and older
Sexes eligible
All
Accepts healthy volunteers
No

Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.

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

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
05

Study design

Phase
Not applicable
Primary purpose
Prevention
Allocation
Not applicable
Intervention model
Single group
Masking
None (open label)
Enrollment
50 participants (estimated)

Study arms

  • 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

Interventions

  • GeneticConstitutional 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.

06

What researchers measure

Primary outcomes

  1. Identify new candidate genes for hereditary cancer predisposition in patients with uveal melanoma by constitutional exome analysis

    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

    Time frame: At baseline

Secondary outcomes

  1. 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.

    Number of patients with a mutation on BRCA1, BRCA2, CHEK2, PALB2, POT1, MSH6 or MLH1

    Time frame: At baseline

07

Study locations

1 of 1 sites recruiting
  • Centre Jean PERRIN
    Clermont-Ferrand, Puy-de-Dôme 63011, France
    Recruiting
    • Angeline GINZAC COUVÉ · Contact
    • Mathis LEPAGE, DR · Principal investigator
    • Xavier DURANDO, Pr · Sub investigator
    • Mathilde GAY-BELLILE, Dr · Sub investigator
    • Mathias CAVAILLÉ, Dr · Sub investigator
08

References and documents

Publications

  • Godiveau M, Ginzac A, Bidet Y, Ponelle-Chachuat F, Privat M, Durando X, Cavaille M, Lepage M. Identification of new candidate genes for the hereditary predisposition to uveal melanoma: IGCMU trial. Front Oncol. 2025 Jan 24;15:1538924. doi: 10.3389/fonc.2025.1538924. eCollection 2025. PubMed 39926282 ↗

Individual participant data

Plan to share: No

09

Timeline

Tracking since Sep 25, 2026
ElapsedEstimatedEstimated, not yet reached

Started Oct 2024 (actual). Primary completion is estimated for Apr 2028, 42 months after the start.

How these figures are worked out, and which studies are left out of them.

Registered
Aug 5, 2024
First posted
Aug 13, 2024
StartActual
Oct 29, 2024
Primary completionEst.
Apr 2028
CompletionEst.
Apr 2028
Last update
Mar 19, 2026
What these dates mean
Start.
When the first participant enrolled; while estimated, when the study expects to open to recruitment.
Primary completion.
When the last participant was examined or treated to collect data for the study's main question, its primary outcome. A study that stopped early gives the date its data collection stopped.
Completion.
When the last participant's last visit took place, for every outcome, secondary ones and side effects included: the end of the study. Often later than primary completion, sometimes the same day.
Actual and Est.
Actual means the registry says the date has happened. Est. (estimated) is a date the sponsor plans or expects. It can still move, and the sponsor is expected to change it to actual once it has passed.
No changes since tracking began. The registry record was last updated on Mar 19, 2026, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗
10

Registry details

Key details

Study ID
NCT06550674
Lead sponsor
Centre Jean Perrin
Collaborators
Association Nationale des Patients atteints de cancers de l'oeil (A.N.P.A.C.O.)
Responsible party
Sponsor
First posted
Aug 13, 2024
Start date
Oct 29, 2024
Primary completion
Apr 2028 (estimated)
Completion
Apr 2028 (estimated)
Last update
Mar 19, 2026

Study contacts

Angeline GINZAC COUVÉ
Contact
angeline.ginzac@clermont.unicancer.fr
0473278005 ext. +33
Mathis LEPAGE, Dr
principal investigator · Centre Jean Perrin

Oversight

Data monitoring committee
No
FDA-regulated drug
No
FDA-regulated device
No
View the source record on ClinicalTrials.gov ↗

Interested in this study?

Eligibility is decided by the study team. Share this record with your doctor or contact the team directly.

Contact study team

Follow this study

Get an email when the registry record changes — status, dates, results — or when someone posts here.

Sign in to follow

Discussion

Questions and observations about this study, from anyone following it. Not medical advice, and not a channel to the study team — their contact details are on the registry record.

Sign in to join the discussion. Reading takes no account; posting does. You choose a display name, and a pseudonym is the default.

Nothing here yet. If you are running this trial, taking part in it, or weighing whether to, this is the place to say so.

Start the discussion