The Role of Genetic Mutations and of Circulating mRNAs in Uveal Melanoma
1 other identifier
observational
102
2 countries
3
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.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P50-P75 for all trials
Started Apr 2021
Typical duration for all trials
3 active sites
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
Click on a node to explore related trials.
Study Timeline
Key milestones and dates
Study Start
First participant enrolled
April 20, 2021
CompletedFirst Submitted
Initial submission to the registry
September 19, 2021
CompletedFirst Posted
Study publicly available on registry
January 5, 2022
CompletedPrimary Completion
Last participant's last visit for primary outcome
April 1, 2023
CompletedStudy Completion
Last participant's last visit for all outcomes
December 1, 2023
CompletedJanuary 5, 2022
December 1, 2021
1.9 years
September 19, 2021
December 20, 2021
Conditions
Keywords
Outcome Measures
Primary Outcomes (1)
circulating GNA11 mutation detection through digital droplet PCR
the incidence of GNA11 mutations in uveal melanoma patients and in controls
at the diagnosis of uveal melanoma (first visit), through study completion, in an average of 1 year
Secondary Outcomes (1)
micro RNA levels in serum
at the diagnosis of uveal melanoma (first visit), through study completion, in an average of 1 year
Study Arms (2)
patients with uveal melanoma
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
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.
Interventions
droplet digital PCR in blood sample for research of mutations of GNA11 and GNAQ genes and the following microRNAs: miR - 506-514 cluster, hsamiR - 592 and hsa - miR - 199a - 5p.
Eligibility Criteria
Patients with uveal melanoma and controls will be recruited in three centers: 1. the Ophthalmology Clinic of the "Policlinico-Vittorio Emanuele" University Hospital, Catania, Italy 2. the Ophthalmology Clinic of the University of Turin, Italy 3. the Department of General and Pediatric Ophthalmology, Medical University of Lublin, Lublin, Poland
You may qualify if:
- subjects diagnosed with uveal melanoma
- both sexes
- age ≥ 18 years
You may not qualify if:
- a) autoimmune diseases
- b) tumors
- c) kidney diseases
- d) atherosclerosis
- e) subjects undergoing anti-inflammatory therapies.
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (3)
Eye Clinic, Azienda Policlinico San Marco
Catania, 95123, Italy
Eye Clinic University of Turin
Turin, Italy
Department of General and Pediatric Ophthalmology, Medical University of Lublin
Lublin, Poland
Related Publications (4)
Krantz BA, Dave N, Komatsubara KM, Marr BP, Carvajal RD. Uveal melanoma: epidemiology, etiology, and treatment of primary disease. Clin Ophthalmol. 2017 Jan 31;11:279-289. doi: 10.2147/OPTH.S89591. eCollection 2017.
PMID: 28203054BACKGROUNDDiener-West M, Reynolds SM, Agugliaro DJ, Caldwell R, Cumming K, Earle JD, Hawkins BS, Hayman JA, Jaiyesimi I, Jampol LM, Kirkwood JM, Koh WJ, Robertson DM, Shaw JM, Straatsma BR, Thoma J; Collaborative Ocular Melanoma Study Group. Development of metastatic disease after enrollment in the COMS trials for treatment of choroidal melanoma: Collaborative Ocular Melanoma Study Group Report No. 26. Arch Ophthalmol. 2005 Dec;123(12):1639-43. doi: 10.1001/archopht.123.12.1639.
PMID: 16344433BACKGROUNDVan Raamsdonk CD, Griewank KG, Crosby MB, Garrido MC, Vemula S, Wiesner T, Obenauf AC, Wackernagel W, Green G, Bouvier N, Sozen MM, Baimukanova G, Roy R, Heguy A, Dolgalev I, Khanin R, Busam K, Speicher MR, O'Brien J, Bastian BC. Mutations in GNA11 in uveal melanoma. N Engl J Med. 2010 Dec 2;363(23):2191-9. doi: 10.1056/NEJMoa1000584. Epub 2010 Nov 17.
PMID: 21083380BACKGROUNDFalzone L, Romano GL, Salemi R, Bucolo C, Tomasello B, Lupo G, Anfuso CD, Spandidos DA, Libra M, Candido S. Prognostic significance of deregulated microRNAs in uveal melanomas. Mol Med Rep. 2019 Apr;19(4):2599-2610. doi: 10.3892/mmr.2019.9949. Epub 2019 Feb 11.
PMID: 30816460BACKGROUND
Biospecimen
blood from routine sample will be analyzed at the Laboratory of Experimental Oncology of the Department of Biomedical and Biotechnological Sciences, University of Catania, Italy, in order to research the mutations of the GNA11 and GNAQ genes and the following microRNAs: miR - 506-514 cluster, hsamiR - 592 and hsa - miR - 199a - 5p, using the digital PCR droplet system.
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Central Study Contacts
Study Design
- Study Type
- observational
- Observational Model
- CASE CONTROL
- Time Perspective
- PROSPECTIVE
- Sponsor Type
- OTHER
- Responsible Party
- PRINCIPAL INVESTIGATOR
- PI Title
- Associate Professor
Study Record Dates
First Submitted
September 19, 2021
First Posted
January 5, 2022
Study Start
April 20, 2021
Primary Completion
April 1, 2023
Study Completion
December 1, 2023
Last Updated
January 5, 2022
Record last verified: 2021-12
Data Sharing
- IPD Sharing
- Will not share