The Role of Genetic Mutations and of Circulating mRNAs in Uveal Melanoma
NCT ID: NCT05179174
Last Updated: 2022-01-05
Study Results
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Basic Information
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UNKNOWN
102 participants
OBSERVATIONAL
2021-04-20
2023-12-31
Brief Summary
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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.
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Detailed Description
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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.
Conditions
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Study Design
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CASE_CONTROL
PROSPECTIVE
Study Groups
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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.
blood sample examination
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.
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.
blood sample examination
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.
Interventions
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blood sample examination
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
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Inclusion Criteria
* both sexes
* age ≥ 18 years
Exclusion Criteria
* b) tumors
* c) kidney diseases
* d) atherosclerosis
* e) subjects undergoing anti-inflammatory therapies.
18 Years
ALL
No
Sponsors
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University of Catania
OTHER
Responsible Party
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Antonio Longo
Associate Professor
Locations
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Eye Clinic, Azienda Policlinico San Marco
Catania, , Italy
Eye Clinic University of Turin
Turin, , Italy
Department of General and Pediatric Ophthalmology, Medical University of Lublin
Lublin, , Poland
Countries
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Central Contacts
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Facility Contacts
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Robert Reidak, MD
Role: primary
References
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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.
Diener-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.
Van 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.
Falzone 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.
Other Identifiers
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71/2020/PO
Identifier Type: -
Identifier Source: org_study_id
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