A New Diagnostic Paradigm for Retinitis Pigmentosa Secondary to USH2A Pathogenic Variants
Trial Snapshot
- Phase
- Not Applicable
- Status
- Not yet recruiting
- Sponsor
- Enrollment
- 60
- Primary Endpoint
- Clinical relevance of microRNAs in USH2A-RP
Study 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.
Study Design
- Study Type
- Observational
- Observational Model
- Case Control
- Time Perspective
- Prospective
Eligibility Criteria
- Ages
- 18 Years to — (Adult, Older Adult)
- Sex
- All
- Accepts Healthy Volunteers
- Yes
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)
Investigators
Maria Lucia Cascavilla
Co-Principal Investigator
IRCCS Ospedale San Raffaele