Retrospective Natural History Study of Retinitis Pigmentosa (PHENOROD1)
|ClinicalTrials.gov Identifier: NCT03975543|
Recruitment Status : Unknown
Verified July 2019 by SparingVision.
Recruitment status was: Active, not recruiting
First Posted : June 5, 2019
Last Update Posted : July 11, 2019
|Condition or disease|
|Retinitis Pigmentosa (RP)|
This is a retrospective, longitudinal, observational case history study to determine the natural history of rods and cones degeneration in patients diagnosed with RP caused by pathogenic mutations in genes with selective expression in rods: rhodopsin (RHO), phosphodiesterase 6A (PDE6A) or phosphodiesterase 6B (PDE6B).
113 participants will be enrolled in this study at the single center: CHNO-CIC Quinze-Vingt Paris in France.
|Study Type :||Observational|
|Actual Enrollment :||113 participants|
|Official Title:||Natural History Study of Retinitis Pigmentosa in Patient Carrying Pathogenic Mutations in RHO, PDE6A or PDE6B.|
|Actual Study Start Date :||October 1, 2018|
|Estimated Primary Completion Date :||July 31, 2019|
|Estimated Study Completion Date :||August 31, 2019|
- Visual acuity [ Time Frame: 2 years ]Progression of disease over time as measured by best corrected visual acuity (BCVA) (ETDRS, Snellen) and refraction
- Visual field [ Time Frame: 2 years ]Progression of disease over time as measured by visual fields (kinetic and static)
- Spectral Domain Optical Coherence tomography (SD-OCT) [ Time Frame: 2 years ]Progression of disease over time as measured by SD-OCT (EZ length, ELM length, ONL thickness, macular volume).
- Fundus Autofluorescence (FAF) [ Time Frame: 2 years ]Progression of disease as measured by FAF (Hyperautofluorescent ring)
- Patients characteristics [ Time Frame: 2 years ]Age, gender, medical and surgical history, family history and concomitant treatments
- Clinical diagnosis [ Time Frame: baseline (At diagnosis) ]Age and description at onset, clinical signs, relevant treatments and an ophthalmological anamnesis
- Genetic diagnosis [ Time Frame: baseline (At diagnosis) ]Mutated gene, identified pathogenic mutation
- Electroretinogram (ERG) [ Time Frame: baseline (At diagnosis) ]Photopic and scotopic full field
- Color vision [ Time Frame: 2 years ]15 Hue Desaturated Lanthony
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03975543
|CHNO XV-XX Paris - CIC 1423|
|Paris, France, 75012|