[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100557987":3},{"organization":4,"outcomesModule":7,"designInfo":18,"detailedDescription":17,"studyPopulation":21,"armGroups":22,"interventions":32,"overallOfficials":17,"centralContacts":17,"locations":17,"responsibleParty":40,"collaborators":17,"id":44,"slug":17,"hasResults":45,"nctId":46,"briefTitle":47,"officialTitle":47,"acronym":17,"eligibilityCriteria":48,"healthyVolunteers":49,"sex":50,"minAge":51,"maxAge":17,"enrollmentInfo":52,"targetDuration":17,"studyType":55,"phases":17,"briefSummary":56,"conditions":57,"keywords":17,"overallStatus":59,"whyStopped":17,"lastUpdateSubmitDate":60,"lastUpdatePostDateStruct":61,"startDateStruct":64,"completionDateStruct":66,"leadSponsor":68,"locationsCount":17},{"fullName":5,"class":6},"IRCCS Ospedale San Raffaele","OTHER",{"primaryOutcomes":8,"secondaryOutcomes":13,"otherOutcomes":17},[9],{"measure":10,"description":11,"timeFrame":12},"Clinical relevance of microRNAs in USH2A-RP","For all patients enrolled, at baseline, peripheral blood sampling will be collected.","6 months period following the last follow-up visit",[14],{"measure":15,"description":16,"timeFrame":12},"To test the association between specific microRNAs profiles and the quantitative multimodal retinal imaging findings","At baseline and month 12 follow-up visit, all enrolled patients with a genetically confirmed diagnosis of USH2A-RP, will undergo the following procedures:\n\n* complete ophthalmic examination, including best corrected visual acuity measurement using standard ETDRS charts, intraocular pressure, slit-lamp biomicroscopy of the anterior and posterior segment;\n* multimodal retinal imaging including: Ultrawide field imaging either with Optos devices; Blue-light fundus autofluorescence (FAF); Infrared imaging (IR); Multicolor imaging with Spectralis SD-OCT; Optical coherence tomography (OCT) with Spectralis SD-OCT; Optical coherence tomography angiography (OCTA) of the macula; visual field with standard 30.2 test pattern by Humphrey field analyzer.",null,{"allocation":17,"interventionModel":17,"interventionModelDescription":17,"primaryPurpose":17,"observationalModel":19,"timePerspective":20,"maskingInfo":17},"CASE_CONTROL","PROSPECTIVE","* 60 patients affected by genetically-confirmed USH2A-RP, both males and females, age \\>18 years\n* 10 healthy age- and gender- matched control subjects recruited among healthy patients undergoing general ophthalmological examinations in the outpatient departments",[23,28],{"label":24,"type":17,"description":25,"interventionNames":26},"USH2A-RP","Patients affected by genetically-confirmed USH2A-RP.",[27],"Diagnostic Test: microRNAs analysis",{"label":29,"type":17,"description":30,"interventionNames":31},"controls","Healthy control subjects",[27],[33],{"type":34,"name":35,"description":36,"armGroupLabels":37,"otherNames":38},"DIAGNOSTIC_TEST","microRNAs analysis","Patients will undergo routinary ophthalmological examination, multimodal retinal imaging and blood sampling",[24,29],[39],"multimodal retinal imaging",{"type":41,"investigatorFullName":42,"investigatorTitle":43,"investigatorAffiliation":5,"oldNameTitle":17,"oldOrganization":17},"PRINCIPAL_INVESTIGATOR","Maria Lucia Cascavilla","Co-Principal Investigator","100557987",false,"NCT06545253","A New Diagnostic Paradigm for Retinitis Pigmentosa Secondary to USH2A Pathogenic Variants","Inclusion Criteria:\n\n* age \\>18 years\n* genetically confirmed diagnosis of USH2A-RP\n* availability of genetic tests to assess the pathogenic variants\n\nExclusion Criteria:\n\n* inability to understand and sign the written informed consent form\n* any inflammatory, infectious or degenerative eye disease\n* media opacities resulting incompatible with good imaging quality\n* uncontrolled systemic, metabolic, autoimmune neuroinflammatory and neurodegenerative disease\n* ophthalmologic surgery within the previous six months",true,"ALL","18 Years",{"count":53,"type":54},60,"ESTIMATED","OBSERVATIONAL","Aim of the study is to perform a non-invasive multimodal retinal imaging investigation in a cohort of patients affected by USH2A retinitis pigmentosa (USH2A-RP), in order to develop a new diagnostic paradigm to categorize clinically relevant subgroups. All the procedures will be performed according to normal clinical practice. In addition, a novel quantitative profiling of serum microRNAs will be carried out in order to analyze the clinical importance of microRNA biomarkers in the clinical setting of the disease.",[58],"USH2A Variant Retinitis Pigmentosa","NOT_YET_RECRUITING","2024-08-06",{"date":62,"type":63},"2024-08-09","ACTUAL",{"date":65,"type":54},"2024-08",{"date":67,"type":54},"2027-02",{"name":5,"class":6}]