A New Diagnostic Paradigm for Retinitis Pigmentosa Secondary to USH2A Pathogenic Variants

Not yet recruiting

• Conditions: USH2A Variant Retinitis Pigmentosa
• Interventions: Diagnostic Test: microRNAs analysis

• Registration Number: NCT06545253
• Lead Sponsor: IRCCS Ospedale San Raffaele

Brief Summary

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.

Detailed Description

Not available

Study Timeline

• Study First Submitted: 2024-07-14
• Status Verified: 2024-08
• Study Start: 2024-08
• Study First Submitted QC: 2024-08-06
• Last Update Submitted: 2024-08-06
• Study First Posted: 2024-08-09
• Last Update Posted: 2024-08-09
• Primary Completion: 2025-02
• Study Completion: 2027-02

Recruitment & Eligibility

• Status: NOT_YET_RECRUITING
• Sex: All
• Target Recruitment: 60

Inclusion Criteria

• age >18 years
• genetically confirmed diagnosis of USH2A-RP
• availability of genetic tests to assess the pathogenic variants

Exclusion Criteria

• inability to understand and sign the written informed consent form
• any inflammatory, infectious or degenerative eye disease
• media opacities resulting incompatible with good imaging quality
• uncontrolled systemic, metabolic, autoimmune neuroinflammatory and neurodegenerative disease
• ophthalmologic surgery within the previous six months

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
USH2A-RP	microRNAs analysis	Patients affected by genetically-confirmed USH2A-RP.
controls	microRNAs analysis	Healthy control subjects

Primary Outcome Measures

Name	Time	Method
Clinical relevance of microRNAs in USH2A-RP	6 months period following the last follow-up visit	For all patients enrolled, at baseline, peripheral blood sampling will be collected.

Secondary Outcome Measures

Name	Time	Method
To test the association between specific microRNAs profiles and the quantitative multimodal retinal imaging findings	6 months period following the last follow-up visit	At baseline and month 12 follow-up visit, all enrolled patients with a genetically confirmed diagnosis of USH2A-RP, will undergo the following procedures: * complete ophthalmic examination, including best corrected visual acuity measurement using standard ETDRS charts, intraocular pressure, slit-lamp biomicroscopy of the anterior and posterior segment; * 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.