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Identification of New Candidate Genes for Hereditary Predisposition to Uveal Melanoma

NCT06550674 · Status: RECRUITING · Phase: NA · Type: INTERVENTIONAL · Enrollment: 50

Last updated 2026-03-19

No results posted yet for this 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.

Conditions

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.

Sponsors & Collaborators

  • Association Nationale des Patients atteints de cancers de l'oeil (A.N.P.A.C.O.)

    collaborator UNKNOWN

  • Centre Jean Perrin

    lead OTHER

Principal Investigators

  • Mathis LEPAGE, Dr · Centre Jean Perrin

Study Design

Allocation
NA
Purpose
PREVENTION
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
18 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2024-10-29
Primary Completion
2028-04-30
Completion
2028-04-30

Countries

  • France

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06550674 on ClinicalTrials.gov