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

I

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

Trial contacts and locations

0

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Data sourced from clinicaltrials.gov

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