The Role of Genetic Mutations and of Circulating mRNAs in Uveal Melanoma

• Conditions: Uveal Melanoma
• Interventions: Genetic: blood sample examination

• Registration Number: NCT05179174
• Lead Sponsor: University of Catania

Brief Summary

The aim of the study is to identify genetic and epigenetic biomarkers in uveal melanoma, and to evaluate their diagnostic and prognostic role.

In particular, the specific objectives are:

1. to identify the circulating somatic mutations associated with uveal melanoma;

2. to identify the de-regulated miRNAs associated with uveal melanoma;

3. to evaluate the diagnostic and prognostic role of the identified genetic and epigenetic markers;

4. to identify possible therapeutic targets.

Detailed Description

This is a prospective, multicentric, case-control study, aimed at studying the gene and epigenetic mechanisms involved in uveal melanoma.

Patients with uveal melanoma, will be enrolled. For each subject included in the study, in a blood sample will be searched the mutations of the GNA11 and GNAQ genes and the expression of the following microRNAs: miR - 506-514 cluster, hsamiR - 592 and hsa - miR - 199a - 5p; the digital PCR droplet system will be used.

The study will not change the diagnostic-therapeutic process adopted in the clinical practice and will have no influence on the clinical management of enrolled patients.

A group of age sex matched controls will be recruited among patients scheduled for cataract surgery.

The sample size was calculated to detect, with a power of 80% and a confidence interval of 95%, a difference of 13.5% between the incidence of mutation of the GNA11 gene in patients with melanoma and healthy controls. (13.5% vs 0%). Overall, at least 51 patients with uveal melanoma and 51 controls will be recruited, for a total of at least 102 subjects.

Study Timeline

• Study Start: 2021-04-20
• Study First Submitted: 2021-09-19
• Status Verified: 2021-12
• Study First Submitted QC: 2021-12-20
• Last Update Submitted: 2021-12-20
• Study First Posted: 2022-01-05
• Last Update Posted: 2022-01-05
• Primary Completion: 2023-04
• Study Completion: 2023-12

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 102

Inclusion Criteria

• subjects diagnosed with uveal melanoma
• both sexes
• age ≥ 18 years

Exclusion Criteria

• a) autoimmune diseases
• b) tumors
• c) kidney diseases
• d) atherosclerosis
• e) subjects undergoing anti-inflammatory therapies.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
patients with uveal melanoma	blood sample examination	51 patients with a diagnosed with uveal melanoma; of both sexes, aging more than 18 years. The exclusion criteria are: a) subjects with autoimmune diseases, tumors, diseases kidney, atherosclerosis; b) subjects undergoing anti-inflammatory therapies.
healthy controls	blood sample examination	51 age sex matched controls, patients with diagnosed with cataracts; of both sexes, aging more than 18 years. The exclusion criteria are: a) subjects with autoimmune diseases, tumors, kidney diseases, atherosclerosis; b) subjects undergoing anti-inflammatory therapies.

Primary Outcome Measures

Name	Time	Method
circulating GNA11 mutation detection through digital droplet PCR	at the diagnosis of uveal melanoma (first visit), through study completion, in an average of 1 year	the incidence of GNA11 mutations in uveal melanoma patients and in controls

Secondary Outcome Measures

Name	Time	Method
micro RNA levels in serum	at the diagnosis of uveal melanoma (first visit), through study completion, in an average of 1 year	the expression levels of circulating miRNAs (miR - 506-514 cluster, hsamiR - 592 and hsa - miR - 199a - 5p) in uveal melanoma patients and in controls

Trial Locations

Locations (3)

Eye Clinic, Azienda Policlinico San Marco; 🇮🇹 Catania, Italy

Department of General and Pediatric Ophthalmology, Medical University of Lublin; 🇵🇱 Lublin, Poland

Eye Clinic University of Turin; 🇮🇹 Turin, Italy