Prospective Natural History Study of Retinitis Pigmentosa

N/AActive Not RecruitingNCT04285398

SparingVision82 enrolled

Overview

This is natural history study of rods and cones degenerations in patients with Retinitis Pigmentosa (RP) caused by pathogenic mutations in RHO, PDE6a or PDE6b gene mutations.

This is an open, longitudinal, prospective, multicentric study to describe the disease progression in patients with retinitis pigmentosa due to mutation in genes with selective expression in rods: rhodopsin (RHO), phosphodiesterase 6a (PDE6a) or phosphodiesterase 6b (PDE6b).RHO,PDE6A or PDE6B mutation.

Study Type

INTERVENTIONAL

Allocation

NON_RANDOMIZED

Purpose

SCREENING

Masking

NONE

Enrollment

Conditions

Retinitis Pigmentosa

Interventions

Ophthalmic examinationsOTHER

Slit-lamp examination, IntraOcular Pressure, Visual Acuity, Visual Field, Full-field Stimulus Threshold, Dark adaptometry, Color Vision testing, Optical Coherence Tomography, Fundus AutoFluorescence and Adaptive Optics imaging.

Mobility TestOTHER

Functional test to evaluate mobility and postural condition of patients

Eligibility

Sex: ALLMin age: 18 Years

Medical Language ↔ Plain English

Inclusion Criteria: * RP with mutations affecting the RHO, PDE6A and PDE6B genes * Visual acuity ≥ 20/200 for at least one eye at inclusion visit * Binocular Visual field diameter ≥ 5° as measured on the Goldmann III-4e isopter at inclusion visit * Patients having signed the informed consent form * Sufficient knowledge of the local language to ensure understanding of the tasks to be performed and the instructions received * Patient affiliated to a Health Security System if they are included in a clinical site based in France (per law) Exclusion Criteria: * Patients with any other gene mutation known to be involved in RP * Patients with other ocular disorder likely to impact the retinal function * Pregnant or breastfeeding women

Locations (2)

UPMC Eye Center

Pittsburgh, Pennsylvania, United States

CHNO XV-XX Paris - CIC 1423

Paris, France

Outcomes

Primary Outcomes

Spectral Domain Optical Coherence tomography (SD-OCT)

Progression of disease over time as measured by SD-OCT (EZ length, ELM length, ONL thickness, macular volume).

Time frame: 1 year

Fundus Autofluorescence (FAF)

Progression of disease as measured by FAF (Hyperautofluorescent ring)

Time frame: 1 year

Secondary Outcomes

Visual acuity

Progression of disease over time as measured by best corrected visual acuity (BCVA) (ETDRS, Snellen) and refraction

Time frame: 1 year

Visual field

Progression of disease over time as measured by kinetic and static visual fields

Time frame: 1 year

Full-field stimulus threshold (FST)

Progression of disease over time as measured by FST

Time frame: 1 year

Color vision

15 Hue Desaturated Lanthony

Time frame: 1 year

Dark adaptometry (DA)

Progression of disease over time as measured by DA

Time frame: 1 year

Data from ClinicalTrials.gov

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