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

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 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

NCT ID

NCT05179174

Organization ID

71/2020/PO

Responsible Party

Principal Investigator

Study Sponsor

University of Catania

Study Sponsor

, , 

Verification Date

December 2021