Not Yet RecruitingNot Applicable

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

60 participantsStarted 2024-08

Plain-language 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.

Who can participate

Age range18 Years

SexALL

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AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

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

What they're measuring

Clinical relevance of microRNAs in USH2A-RP

Timeframe: 6 months period following the last follow-up visit

Trial details

NCT IDNCT06545253

SponsorIRCCS Ospedale San Raffaele

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2025-02

View on ClinicalTrials.gov More USH2A Variant Retinitis Pigmentosa trials