Identification of New Candidate Genes for Hereditary Predisposition to Uveal Melanoma

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Identification of New Candidate Genes for Hereditary Predisposition to Uveal Melanoma

Study Purpose

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.

Recruitment Criteria

Accepts Healthy Volunteers Healthy volunteers are participants who do not have a disease or condition, or related conditions or symptoms	No
Study Type An interventional clinical study is where participants are assigned to receive one or more interventions (or no intervention) so that researchers can evaluate the effects of the interventions on biomedical or health-related outcomes. An observational clinical study is where participants identified as belonging to study groups are assessed for biomedical or health outcomes. Searching Both is inclusive of interventional and observational studies.	Interventional
Eligible Ages	18 Years and Over
Gender	All

More Inclusion & Exclusion Criteria

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

Trial Details

Trial ID: This trial id was obtained from ClinicalTrials.gov, a service of the U.S. National Institutes of Health, providing information on publicly and privately supported clinical studies of human participants with locations in all 50 States and in 196 countries.	NCT06550674
Phase Phase 1: Studies that emphasize safety and how the drug is metabolized and excreted in humans. Phase 2: Studies that gather preliminary data on effectiveness (whether the drug works in people who have a certain disease or condition) and additional safety data. Phase 3: Studies that gather more information about safety and effectiveness by studying different populations and different dosages and by using the drug in combination with other drugs. Phase 4: Studies occurring after FDA has approved a drug for marketing, efficacy, or optimal use.	N/A
Lead Sponsor The sponsor is the organization or person who oversees the clinical study and is responsible for analyzing the study data.	Centre Jean Perrin
Principal Investigator The person who is responsible for the scientific and technical direction of the entire clinical study.	Mathis LEPAGE, Dr
Principal Investigator Affiliation	Centre Jean Perrin
Agency Class Category of organization(s) involved as sponsor (and collaborator) supporting the trial.	Other
Overall Status	Recruiting
Countries	France
Conditions The disease, disorder, syndrome, illness, or injury that is being studied.	Uveal Melanoma

Arms & Interventions

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.

Interventions

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.

Contact a Trial Team

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