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NCT Number: NCT06545253

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

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.

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Key information

Conditions

USH2A Variant Retinitis Pigmentosa

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

microRNAs analysis

Diagnostic Test

Patients will undergo routinary ophthalmological examination, multimodal retinal imaging and blood sampling

Other names: multimodal retinal imaging

Primary outcomes

  1. 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

  1. To test the association between specific microRNAs profiles and the quantitative multimodal retinal imaging findings

    Time frame: 6 months period following the last follow-up visit

    At baseline and month 12 follow-up visit, all enrolled patients with a genetically confirmed diagnosis of USH2A-RP, will undergo the following procedures:

    • complete ophthalmic examination, including best corrected visual acuity measurement using standard ETDRS charts, intraocular pressure, slit-lamp biomicroscopy of the anterior and posterior segment;
    • multimodal retinal imaging including: Ultrawide field imaging either with Optos devices; Blue-light fundus autofluorescence (FAF); Infrared imaging (IR); Multicolor imaging with Spectralis SD-OCT; Optical coherence tomography (OCT) with Spectralis SD-OCT; Optical coherence tomography angiography (OCTA) of the macula; visual field with standard 30.2 test pattern by Humphrey field analyzer.

Sponsors and collaborators

Lead sponsor

IRCCS Ospedale San Raffaele

Other

Registry information

Important dates

Study start
2024
Primary completion
2025
Study completion
2027
First posted
Aug 9, 2024
Registry last updated
Aug 9, 2024

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.