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

Launched by IRCCS OSPEDALE SAN RAFFAELE · Aug 6, 2024

Keywords

ClinConnect Summary

This clinical trial is studying a specific type of eye condition called USH2A variant retinitis pigmentosa (USH2A-RP), which affects a person's vision. The goal is to use advanced imaging techniques to better understand this condition and to identify different subgroups of patients who may experience it in various ways. Researchers will also look at certain markers in the blood called microRNAs to see how they relate to the disease. This research aims to improve diagnosis and treatment options for people with USH2A-RP.

To join the study, participants must be over 18 years old and have a confirmed genetic diagnosis of USH2A-RP. They need to have genetic test results available to confirm their condition. Participants can expect to undergo non-invasive eye imaging as part of the standard clinical care, and they will provide blood samples for the microRNA analysis. It's important to note that individuals with certain eye diseases, recent eye surgeries, or other serious health conditions may not be eligible for this trial.

Gender

ALL

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