Biomarkers in Retinitis Pigmentosa (RPMARKER)

Institute of Hospitalization and Scientific Care (IRCCS)

Status: Enrolling

Conditions: Retinitis Pigmentosa

Treatments: Diagnostic Test: OCT, OCT angiography, flicker ERG and Ultra Wide Field retinography and autofluorescence.

Study type: Observational

Funder types: Other

Identifiers

NCT06306690

6401

Details and patient eligibility

About

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.

Full 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.

Enrollment: 35 estimated patients

Sex: All

Ages: 18+ years old

Volunteers: No Healthy Volunteers

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.

Trial design

35 participants in 6 patient groups

1. Patients with rhodopsin mutation (RHO)

Description:

Following a clinical diagnosis, patients undergo genetic testing. Patients with rhodopsin mutation (RHO) a mutation are categorised into subgroup 1.

Treatment:

Diagnostic Test: OCT, OCT angiography, flicker ERG and Ultra Wide Field retinography and autofluorescence.

2. Patients with pre-mRNA factor 8 (PRPF8) mutation

Description:

Following a clinical diagnosis, patients undergo genetic testing. Patients with pre-mRNA factor 8 (PRPF8) mutation are categorised into subgroup 2.

Treatment:

Diagnostic Test: OCT, OCT angiography, flicker ERG and Ultra Wide Field retinography and autofluorescence.

3.Patients a cone-specific phosphodiesterase, i.e. PDE6B, mutation

Description:

Following a clinical diagnosis, patients undergo genetic testing. Patients with a cone-specific phosphodiesterase, i.e. PDE6B, mutation are categorised into subgroup 3.

Treatment:

Diagnostic Test: OCT, OCT angiography, flicker ERG and Ultra Wide Field retinography and autofluorescence.

4. Patients with Chromosome 2-Open (C2orf71) mutation

Description:

Following a clinical diagnosis, patients undergo genetic testing. Patients with Chromosome 2-Open (C2orf71) mutation are categorised into subgroup 4.

Treatment:

Diagnostic Test: OCT, OCT angiography, flicker ERG and Ultra Wide Field retinography and autofluorescence.

5. Patients with Guanylate Cyclase (GUCY2D) mutation

Description:

Following a clinical diagnosis, patients undergo genetic testing. Patients with Guanylate Cyclase (GUCY2D) mutation are categorised into subgroup 5.

Treatment:

Diagnostic Test: OCT, OCT angiography, flicker ERG and Ultra Wide Field retinography and autofluorescence.

6. Patients with RP- specific nuclear receptor (Nr2E3) mutation

Description:

Following a clinical diagnosis, patients undergo genetic testing. Patients with RP- specific nuclear receptor (Nr2E3) mutation are categorised into subgroup 6.

Treatment:

Diagnostic Test: OCT, OCT angiography, flicker ERG and Ultra Wide Field retinography and autofluorescence.