Biomarkers in Retinitis Pigmentosa

Recruiting

• Conditions: Retinitis Pigmentosa
• Interventions: Diagnostic Test: OCT, OCT angiography, flicker ERG and Ultra Wide Field retinography and autofluorescence.

• Registration Number: NCT06306690
• Lead Sponsor: Fondazione Policlinico Universitario Agostino Gemelli IRCCS

Brief Summary

The objective of this study is to discover biomarkers that demonstrate a correlation between the severity of retinitis pigmentosa (RP) and the thickness of the retinal pigment epithelium (RPE). These biomarkers will serve as prognostic indicators for various kinds of retinitis pigmentosa. The objective of this study is to find biomarkers that establish a correlation between the severity of retinitis pigmentosa and the thickness of the retinal pigment epithelium (RPE), which can serve as a prognostic indicator for Retinitis Pigmentosa.

Detailed Description

After a genetic confirmation of RP and classification, the patients will undergo a comprehensive ophthalmological examination that includes the following tests: slit-lamp anterior segment, visual acuity direct and indirect ophthalmoscopy, intraocular pressure, and family history.In order to evaluate the potential role of RPE in the advancement of RP, HD-OCT and OCT angiography images of the outer retina using OCT devices will be performed.

Analysis of high-resolution images captured with an ultrawidefield system using a Zeiss Clarus device in order to determine the condition of the peripheral retina.Finally, Flicker Electroretinogram (fERG) performed on the central retina (macula), to assess the central macular function within an 18° field of view. This assessment involved measuring the response of the macula to a flickering stimulus with a frequency of 41 Hz, which is commonly done in routine clinical practice.

Study Timeline

• Study Start: 2024-02-01
• Study First Submitted: 2024-02-10
• Status Verified: 2024-03
• Study First Submitted QC: 2024-03-10
• Last Update Submitted: 2024-03-10
• Study First Posted: 2024-03-12
• Last Update Posted: 2024-03-12
• Primary Completion: 2025-04
• Study Completion: 2025-04

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 35

Inclusion Criteria

• Patients who are able to read and sign informed consent
• Patients with Retinitis pigmentosa confirmed by genetic test.
• Patients older than or equal to 18 years of age

Exclusion Criteria

• Other retinal diseases such as macular hole, retinal detachment, macular neovascularization.
• Corneal surgery in the last 12 months
• Glaucoma with pressure above 25 mmHg in the last three months.
• Best Correct Visual Acuity below 1/10 in at least one eye.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
3.Patients a cone-specific phosphodiesterase, i.e. PDE6B, mutation	OCT, OCT angiography, flicker ERG and Ultra Wide Field retinography and autofluorescence.	Following a clinical diagnosis, patients undergo genetic testing. Patients with a cone-specific phosphodiesterase, i.e. PDE6B, mutation are categorised into subgroup 3.
4. Patients with Chromosome 2-Open (C2orf71) mutation	OCT, OCT angiography, flicker ERG and Ultra Wide Field retinography and autofluorescence.	Following a clinical diagnosis, patients undergo genetic testing. Patients with Chromosome 2-Open (C2orf71) mutation are categorised into subgroup 4.
2. Patients with pre-mRNA factor 8 (PRPF8) mutation	OCT, OCT angiography, flicker ERG and Ultra Wide Field retinography and autofluorescence.	Following a clinical diagnosis, patients undergo genetic testing. Patients with pre-mRNA factor 8 (PRPF8) mutation are categorised into subgroup 2.
1. Patients with rhodopsin mutation (RHO)	OCT, OCT angiography, flicker ERG and Ultra Wide Field retinography and autofluorescence.	Following a clinical diagnosis, patients undergo genetic testing. Patients with rhodopsin mutation (RHO) a mutation are categorised into subgroup 1.
6. Patients with RP- specific nuclear receptor (Nr2E3) mutation	OCT, OCT angiography, flicker ERG and Ultra Wide Field retinography and autofluorescence.	Following a clinical diagnosis, patients undergo genetic testing. Patients with RP- specific nuclear receptor (Nr2E3) mutation are categorised into subgroup 6.
5. Patients with Guanylate Cyclase (GUCY2D) mutation	OCT, OCT angiography, flicker ERG and Ultra Wide Field retinography and autofluorescence.	Following a clinical diagnosis, patients undergo genetic testing. Patients with Guanylate Cyclase (GUCY2D) mutation are categorised into subgroup 5.

Primary Outcome Measures

Name	Time	Method
Retinal pigment epithelium changes in Retinitis Pigmentosa.	14 months	Retinal pigment epithelium extent measured with OCT calliper (micrometers).

Secondary Outcome Measures

Name	Time	Method
Retinitis Pigmentosa biomarkers	14 months	Measurement of retinal pigment epithelium extension by oct calliper (micrometers) in different forms of retinitis pigmentosa.; Measurement of superficial and deep retinal vascularisation in the different forms of retinitis pigmentosa.

Trial Locations

Locations (1)

Maria Cristina Savastano; 🇮🇹 Roma, Italy