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

IRCCS Ospedale San Raffaele

Status: Not yet enrolling

Conditions: USH2A Variant Retinitis Pigmentosa

Treatments: Diagnostic Test: microRNAs analysis

Study type: Observational

Funder types: Other

Identifiers

NCT06545253

PNRR-MR1-2023-12378435

Details and patient eligibility

About

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.

Enrollment: 60 estimated patients

Sex: All

Ages: 18+ years old

Volunteers: Accepts Healthy Volunteers

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

Trial design

60 participants in 2 patient groups

USH2A-RP

Description:

Patients affected by genetically-confirmed USH2A-RP.

Treatment:

Diagnostic Test: microRNAs analysis

controls

Description:

Healthy control subjects

Treatment:

Diagnostic Test: microRNAs analysis