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A New Diagnostic Paradigm for Retinitis Pigmentosa Secondary to USH2A Pathogenic Variants
Sponsor: IRCCS Ospedale San Raffaele
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.
Key Details
Gender
All
Age Range
18 Years - Any
Study Type
OBSERVATIONAL
Enrollment
60
Start Date
2024-08
Completion Date
2027-02
Last Updated
2024-08-09
Healthy Volunteers
Yes
Conditions
Interventions
microRNAs analysis
Patients will undergo routinary ophthalmological examination, multimodal retinal imaging and blood sampling