Retinitis Pigmentosa
Conditions
Keywords
RHO, PDE6A, PDE6B, Pathogenic Mutation, Prospective, Natural History, Retinal Disease, Eye Disease, Blindness, Inherited Eye Disease, Vision Disorder, Inherited Retinal Disorder, Rod-Cone Dystrophy
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.
Interventions
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.
OTHERMobility Test
Functional test to evaluate mobility and postural condition of patients
Sponsors
SparingVision
Study design
Allocation
NON_RANDOMIZED
Intervention model
PARALLEL
Primary purpose
SCREENING
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Spectral Domain Optical Coherence tomography (SD-OCT) | 1 year | Progression of disease over time as measured by SD-OCT (EZ length, ELM length, ONL thickness, macular volume). |
| Fundus Autofluorescence (FAF) | 1 year | Progression of disease as measured by FAF (Hyperautofluorescent ring) |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Full-field stimulus threshold (FST) | 1 year | Progression of disease over time as measured by FST |
| Visual acuity | 1 year | Progression of disease over time as measured by best corrected visual acuity (BCVA) (ETDRS, Snellen) and refraction |
| Dark adaptometry (DA) | 1 year | Progression of disease over time as measured by DA |
| Color vision | 1 year | 15 Hue Desaturated Lanthony |
| Visual field | 1 year | Progression of disease over time as measured by kinetic and static visual fields |
Countries
France, United States
Outcome results
None listed