A New Diagnostic Paradigm for Retinitis Pigmentosa Secondary to USH2A Pathogenic Variants
Overview
- Phase
- Not Applicable
- Intervention
- Not specified
- Conditions
- USH2A Variant Retinitis Pigmentosa
- Sponsor
- IRCCS Ospedale San Raffaele
- Enrollment
- 60
- Primary Endpoint
- Clinical relevance of microRNAs in USH2A-RP
- Status
- Not yet recruiting
- Last Updated
- last year
Overview
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.
Investigators
Maria Lucia Cascavilla
Co-Principal Investigator
IRCCS Ospedale San Raffaele
Eligibility Criteria
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
Outcomes
Primary Outcomes
Clinical relevance of microRNAs in USH2A-RP
Time Frame: 6 months period following the last follow-up visit
For all patients enrolled, at baseline, peripheral blood sampling will be collected.
Secondary Outcomes
- To test the association between specific microRNAs profiles and the quantitative multimodal retinal imaging findings(6 months period following the last follow-up visit)