Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
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.
Not provided
Not provided
Not provided
Not provided
| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Study Group 1 | Other | Four years follow up of patients with ophthalmic examination. |
|
| Study Group 2 | Other | Four years follow-up of patients with ophthalmic examination and mobility testing. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Ophthalmic examinations | Other | 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. |
| 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 |
| 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 |
Not provided
Inclusion Criteria:
Exclusion Criteria:
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
| Name | Affiliation | Role |
|---|---|---|
| Isabelle Audo, MD, PhD | CHNO XV-XX Paris - CIC 1423 | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| UPMC Eye Center | Pittsburgh | Pennsylvania | 15213 | United States | ||
| CHNO XV-XX Paris - CIC 1423 |
Not provided
| ID | Term |
|---|---|
| D012174 | Retinitis Pigmentosa |
| D012164 | Retinal Diseases |
| D005128 | Eye Diseases |
| D001766 | Blindness |
| D014786 | Vision Disorders |
| D000071700 | Cone-Rod Dystrophies |
| ID | Term |
|---|---|
| D015785 | Eye Diseases, Hereditary |
| D058499 | Retinal Dystrophies |
| D012162 | Retinal Degeneration |
| D030342 | Genetic Diseases, Inborn |
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
| Mobility Test | Other | Functional test to evaluate mobility and postural condition of patients |
|
| 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 |
| Paris |
| 75012 |
| France |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D012678 | Sensation Disorders |
| D009461 | Neurologic Manifestations |
| D009422 | Nervous System Diseases |
| D012816 | Signs and Symptoms |
| D013568 | Pathological Conditions, Signs and Symptoms |