Identifying new genes linked to hereditary uveal melanoma
Identification of New Candidate Genes for Hereditary Predisposition to Uveal Melanoma
NA · Centre Jean Perrin · NCT06550674
This study is trying to find new genes that might make families more likely to get uveal melanoma, a type of eye cancer, to help improve care and monitoring for those affected.
Quick facts
| Phase | NA |
|---|---|
| Study type | Interventional |
| Enrollment | 50 (estimated) |
| Ages | 18 Years and up |
| Sex | All |
| Sponsor | Centre Jean Perrin (other) |
| Locations | 1 site (Clermont-Ferrand, Puy-de-Dôme) |
| Trial ID | NCT06550674 on ClinicalTrials.gov |
What this trial studies
This study aims to identify new candidate genes that may contribute to hereditary predisposition to uveal melanoma, a type of eye cancer. Currently, only 20% of familial cases are explained by known genetic factors, suggesting that other hereditary predispositions exist. By conducting constitutional exome analysis on patients with a history of uveal melanoma, the researchers hope to uncover additional genetic markers that could inform better surveillance and management for affected families.
Who should consider this trial
Good fit: Ideal candidates include patients with a personal history of uveal melanoma who are currently diagnosed, undergoing treatment, or in follow-up care.
Not a fit: Patients who have already been identified with pathogenic variations in the BAP1 or MBD4 genes may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved genetic screening and surveillance for families at risk of uveal melanoma.
How similar studies have performed: While the identification of new genetic factors is a common goal in cancer research, this specific approach to uveal melanoma is relatively novel and has not been extensively tested.
Eligibility criteria
Show full 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
Where this trial is running
Clermont-Ferrand, Puy-de-Dôme
- Centre Jean PERRIN — Clermont-Ferrand, Puy-de-Dôme, France (RECRUITING)
Study contacts
- Principal investigator: Mathis LEPAGE, Dr — Centre Jean Perrin
- Study coordinator: Angeline GINZAC COUVÉ
- Email: angeline.ginzac@clermont.unicancer.fr
- Phone: 0473278005
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions: Uveal Melanoma, uveal melanoma, hereditary predisposition, candidate genes identification