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Trial Title:
Identification of New Candidate Genes for Hereditary Predisposition to Uveal Melanoma
NCT ID:
NCT06550674
Condition:
Uveal Melanoma
Conditions: Official terms:
Melanoma
Uveal Neoplasms
Disease Susceptibility
Conditions: Keywords:
uveal melanoma
hereditary predisposition
candidate genes identification
Study type:
Interventional
Study phase:
N/A
Overall status:
Recruiting
Study design:
Allocation:
N/A
Intervention model:
Single Group Assignment
Primary purpose:
Prevention
Masking:
None (Open Label)
Intervention:
Intervention type:
Genetic
Intervention name:
Constitutional exome analysis
Description:
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.
Arm group label:
constitutional genetic analysis
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.
Criteria for eligibility:
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
Gender:
All
Minimum age:
18 Years
Maximum age:
N/A
Healthy volunteers:
No
Locations:
Facility:
Name:
Centre Jean PERRIN
Address:
City:
Clermont-Ferrand
Zip:
63011
Country:
France
Status:
Recruiting
Contact:
Last name:
Angeline GINZAC COUVÉ
Contact backup:
Last name:
Mathis LEPAGE, DR
Contact backup:
Last name:
Xavier DURANDO, Pr
Contact backup:
Last name:
Mathilde GAY-BELLILE, Dr
Contact backup:
Last name:
Mathias CAVAILLÉ, Dr
Start date:
October 29, 2024
Completion date:
February 28, 2025
Lead sponsor:
Agency:
Centre Jean Perrin
Agency class:
Other
Collaborator:
Agency:
Association Nationale des Patients atteints de cancers de l'oeil (A.N.P.A.C.O.)
Agency class:
Other
Source:
Centre Jean Perrin
Record processing date:
ClinicalTrials.gov processed this data on November 12, 2024
Source: ClinicalTrials.gov page:
https://clinicaltrials.gov/ct2/show/NCT06550674
