Uveal MelanomaNCT05179174
The Role of Genetic Mutations and of Circulating mRNAs in Uveal Melanoma
An observational study of Uveal Melanoma, run by University of Catania at 3 sites in 2 countries.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Uveal Melanoma
- What is being tested?
- blood sample examination
- How many people
- 102 participants
- Where
- 3 sitesin 2 countries
- Study dates
- 20 Apr 2021to Dec 2023
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: 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
Who may be able to join
- subjects diagnosed with uveal melanoma
- both sexes
- age ≥ 18 years
Who cannot join
- a) autoimmune diseases
- b) tumors
- c) kidney diseases
- d) atherosclerosis
- e) subjects undergoing anti-inflammatory therapies.
Trial locations and contacts
3 sites in 2 countries.
3 sites in 2 countries
Italy2 sites, 2 recruiting
- Recruiting
Eye Clinic, Azienda Policlinico San Marco
Catania, 95123
Antonio Longo, MD PhD, antlongo@unict.it
- Recruiting
Eye Clinic University of Turin
Turin
Michele Reibaldi, MD PhD, mreibaldi@libero.it
Poland1 site, 1 recruiting
- Recruiting
Department of General and Pediatric Ophthalmology, Medical University of Lublin
Lublin
Robert Reidak, MD
About this study
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:
- to identify the circulating somatic mutations associated with uveal melanoma;
- to identify the de-regulated miRNAs associated with uveal melanoma;
- to evaluate the diagnostic and prognostic role of the identified genetic and epigenetic markers;
- to identify possible therapeutic targets.
Read the 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.
- Conditions
- Uveal Melanoma
- Being tested
- blood sample examination
- Keywords
- uveal melanoma, GNA11 mutation, GNAQ mutation, micro RNA
- Medical subject headings
- Uveal Melanoma
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
blood sample examinationGenetic
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.
| Study group | Role | What they receive |
|---|---|---|
| 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. Receives: Genetic: blood sample examination | |
| 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. Receives: Genetic: blood sample examination |
What is being measured
The primary outcome is the main question the study is designed to answer.
circulating GNA11 mutation detection through digital droplet PCR
the incidence of GNA11 mutations in uveal melanoma patients and in controls
Measured: 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
the expression levels of circulating miRNAs (miR - 506-514 cluster, hsamiR - 592 and hsa - miR - 199a - 5p) in uveal melanoma patients and in controls
Measured: at the diagnosis of uveal melanoma (first visit), through study completion, in an average of 1 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted5 Jan 2022
- Study start20 Apr 2021
- Primary completionApr 2023 (estimated)
- Study completionDec 2023 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (4)Papers the sponsor has linked to this study.
- Other trials for Uveal MelanomaStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Prospective
- Enrolment
- 102 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University of Catania
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Antonio Longo, University of Catania
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05179174
- Sponsor's protocol ID
- 71/2020/PO
- Status last verified
- Dec 2021
- First submitted
- 19 Sep 2021
- Last updated
- 5 Jan 2022
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
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.
PubMed 28203054Diener-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.
PubMed 16344433Van 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.
PubMed 21083380Falzone 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.
PubMed 30816460
Study at a glance
From the registry record, last updated by the sponsor on 5 Jan 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- The Role of Genetic Mutations and of Circulating mRNAs in Uveal Melanoma
- ClinicalTrials.gov ID
- NCT05179174
- Acronym / sponsor ID
- 71/2020/PO
- Conditions
- Uveal Melanoma
- Keywords
- uveal melanoma, GNA11 mutation, GNAQ mutation, micro RNA
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 102 participants (estimated)
- Lead sponsor
- University of CataniaUniversity, hospital or other
- Study start
- 20 Apr 2021 (actual)
- Primary completion
- Apr 2023 (estimated)
- Study completion
- Dec 2023 (estimated)
- First posted
- 5 Jan 2022 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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:
- to identify the circulating somatic mutations associated with uveal melanoma;
- to identify the de-regulated miRNAs associated with uveal melanoma;
- to evaluate the diagnostic and prognostic role of the identified genetic and epigenetic markers;
- 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 design
- Observational model
- Case-control
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| patients with uveal melanoma | – | Genetic: blood sample examination51 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 | – | Genetic: blood sample examination51 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. |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- 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
Key inclusion criteria (3 listed)
- subjects diagnosed with uveal melanoma
- both sexes
- age ≥ 18 years
Key exclusion criteria (5 listed)
- a) autoimmune diseases
- b) tumors
- c) kidney diseases
- d) atherosclerosis
- e) subjects undergoing anti-inflammatory therapies.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| blood sample examinationdroplet 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. | Genetic | healthy controls, patients with uveal melanoma |
Primary outcome
circulating GNA11 mutation detection through digital droplet PCR
Time frame: 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
1 secondary outcome
micro RNA levels in serum
Time frame: at the diagnosis of uveal melanoma (first visit), through study completion, in an average of 1 year
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 5 Jan 2022.
- Background: PubMed 28203054Krantz 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.
- Background: PubMed 16344433Diener-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.
- Background: PubMed 21083380Van 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.
- Background: PubMed 30816460Falzone 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.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
3 sites in 2 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Uveal Melanoma, run by University of Catania at 3 sites in 2 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 5 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 5 Jan 2022. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 3 sites in Italy, Poland. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Antonio Longo, MD PhD (+393460131548, antlongo@unict.it), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
circulating GNA11 mutation detection through digital droplet PCR (time frame: at the diagnosis of uveal melanoma (first visit), through study completion, in an average of 1 year). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT05179174, which also lists 4 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 5 Jan 2022.