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

August 6, 2024 updated by: Maria Lucia Cascavilla, IRCCS Ospedale San Raffaele
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.

Study Overview

Status

Not yet recruiting

Conditions

Intervention / Treatment

Study Type

Observational

Enrollment (Estimated)

60

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Adult
  • Older Adult

Accepts Healthy Volunteers

Yes

Sampling Method

Non-Probability Sample

Study Population

  • 60 patients affected by genetically-confirmed USH2A-RP, both males and females, age >18 years
  • 10 healthy age- and gender- matched control subjects recruited among healthy patients undergoing general ophthalmological examinations in the outpatient departments

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
USH2A-RP
Patients affected by genetically-confirmed USH2A-RP.
Diagnostic test: microRNAs analysis
Patients will undergo routinary ophthalmological examination, multimodal retinal imaging and blood sampling
Other Names:
  • multimodal retinal imaging
controls
Healthy control subjects
Diagnostic test: microRNAs analysis
Patients will undergo routinary ophthalmological examination, multimodal retinal imaging and blood sampling
Other Names:
  • multimodal retinal imaging

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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.
6 months period following the last follow-up visit

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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.
6 months period following the last follow-up visit

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

IRCCS Ospedale San Raffaele

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Estimated)

August 1, 2024

Primary Completion (Estimated)

February 1, 2025

Study Completion (Estimated)

February 1, 2027

Study Registration Dates

First Submitted

July 14, 2024

First Submitted That Met QC Criteria

August 6, 2024

First Posted (Actual)

August 9, 2024

Study Record Updates

Last Update Posted (Actual)

August 9, 2024

Last Update Submitted That Met QC Criteria

August 6, 2024

Last Verified

August 1, 2024

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • PNRR-MR1-2023-12378435

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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