Prospective Natural History Study of Retinitis Pigmentosa

Study Overview
=================
Brief Summary
-----------------
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.

Detailed Description
-----------------
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.

Official Title
-----------------
Natural History Study of Retinitis Pigmentosa Due to RHO, PDE6a or PDE6b Mutations

Conditions
-----------------
Retinitis Pigmentosa

Intervention / Treatment
-----------------
* Other: Ophthalmic examinations
* Other: Mobility Test


Participation Criteria
=================
Eligibility Criteria
-----------------
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

Ages Eligible for Study
-----------------
Minimum Age: 18 Years

Sexes Eligible for Study
-----------------
All

Accepts Healthy Volunteers
-----------------
No

Study Plan
=================
How is the study designed?
-----------------

Design Details

Primary Purpose: Screening
Allocation: Non-Randomized
Intervention Model: Parallel Assignment
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Other: Study Group 1<br>Four years follow up of patients with ophthalmic examination. | Other: Ophthalmic examinations<br>* 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.<br>|
| Other: Study Group 2<br>Four years follow-up of patients with ophthalmic examination and mobility testing. | Other: Ophthalmic examinations<br>* 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.<br>Other: Mobility Test<br>* Functional test to evaluate mobility and postural condition of patients<br>|

What is the study measuring?
-----------------
Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| 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). | 1 year | 
| Fundus Autofluorescence (FAF) | Progression of disease as measured by FAF (Hyperautofluorescent ring) | 1 year | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Visual acuity | Progression of disease over time as measured by best corrected visual acuity (BCVA) (ETDRS, Snellen) and refraction | 1 year | 
| Visual field | Progression of disease over time as measured by kinetic and static visual fields | 1 year | 
| Full-field stimulus threshold (FST) | Progression of disease over time as measured by FST | 1 year | 
| Color vision | 15 Hue Desaturated Lanthony | 1 year | 
| Dark adaptometry (DA) | Progression of disease over time as measured by DA | 1 year | 

 Terms related to the study
=================
Keywords Provided by Centre Hospitalier Valida
-----------------
RHO, PDE6A, PDE6B, Pathogenic Mutation, Prospective, Natural History, Retinal Disease, Eye Disease, Blindness, Inherited Eye Disease, Vision Disorder, Inherited Retinal Disorder, Rod-Cone Dystrophy