Brief Title
The Role of Genetic Mutations and of Circulating mRNAs in Uveal Melanoma
Official Title
The Role of Genetic Mutations and of Circulating mRNAs in Uveal Melanoma
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 Type
Observational
Primary Outcome
circulating GNA11 mutation detection through digital droplet PCR
Secondary Outcome
micro RNA levels in serum
Condition
Uveal Melanoma
Intervention
blood sample examination
Study Arms / Comparison Groups
patients with uveal melanoma
Description: 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.
Publications
* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.
Recruitment Information
Recruitment Status
Genetic
Estimated Enrollment
102
Start Date
April 20, 2021
Completion Date
December 2023
Primary Completion Date
April 2023
Eligibility Criteria
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.
Gender
All
Ages
18 Years - N/A
Accepts Healthy Volunteers
No
Contacts
, +393460131548, [email protected]
Location Countries
Italy
Location Countries
Italy
Administrative Informations
NCT ID
NCT05179174
Organization ID
71/2020/PO
Responsible Party
Principal Investigator
Study Sponsor
University of Catania
Study Sponsor
, ,
Verification Date
December 2021