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

checkorphan
Learn more about:
Uveal melanoma
Related Clinical Trial
Prospective Registration Of Patient Data and Quality of Life in Eye Melanoma Patients Melanoma Vaccine Against Neoantigen and Shared Antigens by CD40 Activation and TLR Agonists In Patients With Melanoma (Including Ocular Melanoma) The Role of Genetic Mutations and of Circulating mRNAs in Uveal Melanoma A Study of Concurrent Stereotactic Body Radiotherapy With Ipi and Nivo in Metastatic Uveal Melanoma Single Arm Trial of Tumor-Treating Fields in Combination With Nivolumab and Ipilimumab in Metastatic Uveal Melanoma Managed Access Program Supporting Patient Access to Tebentafusp Efficacy of Spartalizumab Across Multiple Cancer-types in Patients With PD1-high mRNA Expressing Tumors Frequency and Clinical Phenotype of BAP1 Hereditary Predisposition Syndrome A Study of APG-115 in Combination With Pembrolizumab in Patients With Metastatic Melanomas or Advanced Solid Tumors Early Integration of Supportive Care Into Standard Oncology Care for Metastatic Uveal Melanoma Patients Defactinib (VS-6063) Combined With VS-6766 in Patients With Metastatic Uveal Melanoma Study of PAC-1 and Entrectinib for Patients With Metastatic Uveal Melanoma A Prospective Natural History Study in Uveal Melanoma Uveal Melanoma and Brachytheraphy: Long-term Outcomes. A Study of RO7293583 in Participants With Unresectable Metastatic Tyrosinase Related Protein 1 (TYRP1)-Positive Melanomas Study to Evaluate the Safety of IMM-01 in Patients With Advanced Solid Tumours Isolated Hepatic Perfusion in Combination With Ipilimumab and Nivolumab in Patients With Uveal Melanoma Metastases Study of Safety and Tolerability of BCA101 Alone and in Combination With Pembrolizumab in Patients With EGFR-driven Advanced Solid Tumors Follow-up of Patients With Uveal Melanoma Adapted to the Risk of Relapse (SALOME) Phase 2 Trial of AU-011 Via Suprachoroidal Administration With a Dose Escalation and Randomized, Masked Dose Expansion Designed to Evaluate Safety and Efficacy of AU-011 in Subjects With Primary Indeterminate Lesions and Small Choroidal Melanoma Vorinostat in Treating Patients With Metastatic or Unresectable Melanoma A Safety and Tolerability Study of INCAGN02390 in Select Advanced Malignancies Cabozantinib-S-Malate Compared With Temozolomide or Dacarbazine in Treating Patients With Metastatic Melanoma of the Eye That Cannot Be Removed by Surgery Epacadostat and Vaccine Therapy in Treating Patients With Stage III-IV Melanoma Sargramostim, Vaccine Therapy, or Sargramostim and Vaccine Therapy in Preventing Disease Recurrence in Patients With Melanoma That Has Been Removed By Surgery A Study of PLX2853 in Advanced Malignancies. Combined PET/CT Imaging for the Early Detection of Ocular Melanoma Metastasis Compared to CT Scanning Alone A Trial of Niraparib in BAP1 and Other DNA Damage Response (DDR) Deficient Neoplasms (UF-STO-ETI-001) TTT Versus TTT and Triamcinolone to Decrease Exudation in Choroidal Melanoma After Proton Beam Therapy C7R-GD2.CART Cells for Patients With Relapsed or Refractory Neuroblastoma and Other GD2 Positive Cancers (GAIL-N) Genetic Predictors of Efficiency and Safety of ICIs in Patients With Different Malignancies (ICIPRESIST-0519) Treatment Of Radiation Retinopathy Trial Temozolomide or Selumetinib in Treating Patients With Metastatic Melanoma of the Eye Intravitreal Ranibizumab for the Prevention of Radiation Maculopathy Following Plaque Radiotherapy Ph 1 Study in Subjects With Tumors Requiring Arginine to Assess ADI-PEG 20 With Pemetrexed and Cisplatin Study in Subjects With Small Primary Choroidal Melanoma Study Multicentre Evaluating the Effectiveness and Toxicity Sorafenib (Nexavar®) in Adult Patients With Uveal Melanoma and Metastatic Dissemination Trial of AEB071 in Combination With BYL719 in Patients With Melanoma Halt Growth of Liver Tumors From Uveal Melanoma With Closure of Liver Artery Following Injection of GM-CSF Vorinostat in Treating Patients With Metastatic Melanoma of the Eye Radiation Therapy in Preventing Liver Metastases in Patients With Uveal Melanoma Who HaveMonosomy 3 or DecisionDx Class 2 Disease and Are More Likely to Develop Liver Metastases 5 Year Registry Study to Track Clinical Application of DecisionDx-UM Assay Results and Associated Patient Outcomes Hypofractionated Stereotactic Linear Accelerator Radiotherapy of Uveal Melanoma Study Evaluating Single and Repeated Intravitreal Doses of ICON-1 in Patients With Uveal Melanoma Pembrolizumab in Treating Patients With Advanced Uveal Melanoma Vascular Response to Brachytherapy Using Functional OCT Safety and Efficacy of IMCgp100 Versus Investigator Choice in Advanced Uveal Melanoma SIR-Spheres® 90Y Microspheres Treatment of Uveal Melanoma Metastasized to Liver Glembatumumab Vedotin in Treating Patients With Metastatic or Locally Recurrent Uveal Melanoma Dexamethasone Intravitreal Implant for Treatment of Macular Edema After Plaque Radiotherapy of Uveal Melanoma Stereotactic Body Radiation Therapy and Aflibercept in Treating Patients With Uveal Melanoma Endoresection of the Tumor Scar or Transpupillary Thermotherapy for the Treatment of Large Uveal Melanomas (Endoresection-Laser) Durvalumab (MEDI4736) Plus Cediranib in Patients With Metastatic Uveal Melanoma A Phase Ib/II Study of AEB071 and MEK162 in Adult Patients With Metastatic Uveal Melanoma Study of AntiCTLA4 in Patients With Unresectable or Metastatic Uveal Melanoma Tilting of Radioactive Plaques After Initial Accurate Placement for Treatment of Uveal Melanoma A Study of the Intra-Patient Escalation Dosing Regimen With IMCgp100 in Patients With Advanced Uveal Melanoma Trametinib With or Without GSK2141795 in Treating Patients With Metastatic Uveal Melanoma RAD001 (Everolimus) and Pasireotide (SOM230) LAR in Patients With Advanced Uveal Melanoma Safety & Activity of Controllable PRAME-TCR Therapy in Previously Treated AML/MDS or Metastatic Uveal Melanoma CAVATAK® and Ipilimumab in Uveal Melanoma Metastatic to the Liver (VLA-024 CLEVER) Comparison Between Fotemustin to Intensive Surveillance in Patients With High Risk Uveal Melanoma Dendritic Cells Plus Autologous Tumor RNA in Uveal Melanoma Study of Immunotherapy Plus ADI-PEG 20 for the Treatment of Advanced Uveal Melanoma New Biopsy Technique for Uveal Melanoma Selumetinib (AZD6244: ARRY-142886) (Hyd-Sulfate) in Metastatic Uveal Melanoma (SUMIT) Safety and Efficacy of AEB071 in Metastatic Uveal Melanoma Patients Influence of Oral Treatment With Citicoline for the Prevention of Radiation Optic Neuropathy in Patients Treated for Uveal Melanomas With Proton Beam Therapy Intermittent Selumetinib for Uveal Melanoma Transarterial Radioembolisation in Comparison to Transarterial Chemoembolisation in Uveal Melanoma Liver Metastasis A Phase I Study of LXS196 in Patients With Metastatic Uveal Melanoma. Evaluation Interest of the Circulating Tumor DNA Dosage in Patient With Hepatic Metastatic Uveal Melanoma Candidate to Complete Resection (ct DNA R0) Messenger Ribonucleic Acid (mRNA) Transfected Dendritic Cell Vaccination in High Risk Uveal Melanoma Patients Study of the Activity of PD-1 Inhibitors in Metastatic Uveal Melanoma A Study of Sorafenib in Patients With Chemonaive Metastatic Uveal Melanoma Crizotinib in High-Risk Uveal Melanoma Following Definitive Therapy Trial of Nivolumab in Combination With Ipilimumab in Subjects With Previously Untreated Metastatic Uveal Melanoma Vorinostat in Patients With Class 2 High Risk Uveal Melanoma Yttrium90, Ipilimumab, & Nivolumab for Uveal Melanoma With Liver Metastases A Phase II Study of BVD-523 in Metastatic Uveal Melanoma Assessing the Clinical Effectiveness of Serum Biomarkers in the Diagnosis of Metastatic Uveal Melanoma Treatment With Intravitreal Avastin for Large Uveal Melanomas

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