Uveal MelanomaIGCMUNCT06550674
Identification of New Candidate Genes for Hereditary Predisposition to Uveal Melanoma
A study testing Constitutional exome analysis in people with Uveal Melanoma, run by Centre Jean Perrin at 1 site in France.
Trial 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… Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Uveal Melanoma
- What is being tested?
- Constitutional exome analysis
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 50 participants
- Where
- 1 siteFrance
- Study dates
- 29 Oct 2024to Apr 2028
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- 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
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
France1 site, 1 recruiting
- Recruiting
Centre Jean PERRIN
Clermont-Ferrand, Puy-de-Dôme, 63011
Angeline GINZAC COUVÉ
Mathis LEPAGE, DR
About this study
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.
- Conditions
- Uveal Melanoma
- Being tested
- Constitutional exome analysis
- Keywords
- uveal melanoma, hereditary predisposition, candidate genes identification
- Medical subject headings
- Uveal Melanoma
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Constitutional exome analysisGenetic
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.
| Study group | Role | What they receive |
|---|---|---|
| constitutional genetic analysis | Experimental | 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. Receives: Genetic: Constitutional exome analysis |
What is being measured
The primary outcome is the main question the study is designed to answer.
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
Measured: 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
Measured: At baseline
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted13 Aug 2024
- Study start29 Oct 2024
- Primary completionApr 2028 (estimated)
- Study completionApr 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Uveal MelanomaStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Prevention
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 50 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Centre Jean Perrin
- Sponsor type
- University, hospital or other
- Collaborators
- Association Nationale des Patients atteints de cancers de l'oeil (A.N.P.A.C.O.)
- Responsible party
- Sponsor
- Investigators
- Mathis LEPAGE, Dr, Principal investigator, Centre Jean Perrin
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06550674
- Sponsor's protocol ID
- 2024-A00030-47
- Acronym
- IGCMU
- Status last verified
- Mar 2026
- First submitted
- 5 Aug 2024
- Last updated
- 19 Mar 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
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
Study at a glance
From the registry record, last updated by the sponsor on 19 Mar 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Identification of New Candidate Genes for Hereditary Predisposition to Uveal Melanoma
- ClinicalTrials.gov ID
- NCT06550674
- Acronym / sponsor ID
- IGCMU / 2024-A00030-47
- Conditions
- Uveal Melanoma
- Keywords
- uveal melanoma, hereditary predisposition, candidate genes identification
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 50 participants (estimated)
- Lead sponsor
- Centre Jean PerrinUniversity, hospital or other
- Collaborators
- Association Nationale des Patients atteints de cancers de l'oeil (A.N.P.A.C.O.)
- Study start
- 29 Oct 2024 (actual)
- Primary completion
- Apr 2028 (estimated)
- Study completion
- Apr 2028 (estimated)
- First posted
- 13 Aug 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Primary purpose
- Prevention
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| constitutional genetic analysis | Experimental | Genetic: Constitutional exome analysisConstitutional 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. |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (2 listed)
- 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
Key exclusion criteria (5 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Constitutional exome analysisFor 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. | Genetic | constitutional genetic analysis |
Primary outcome
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
1 secondary outcome
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
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 19 Mar 2026.
- Derived from this study: PubMed 39926282Godiveau 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.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Mathis LEPAGE, Dr principal investigator
Centre Jean Perrin
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Constitutional exome analysis in people with Uveal Melanoma, run by Centre Jean Perrin at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 5 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 19 Mar 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Angeline GINZAC COUVÉ (0473278005 ext. +33, angeline.ginzac@clermont.unicancer.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Identify new candidate genes for hereditary cancer predisposition in patients with uveal melanoma by constitutional exome analysis (time frame: At baseline). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT06550674, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 19 Mar 2026.