Retrospective Natural History Study of Retinitis Pigmentosa (PHENOROD1)
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|ClinicalTrials.gov Identifier: NCT03975543|
Recruitment Status : Active, not recruiting
First Posted : June 5, 2019
Last Update Posted : August 4, 2021
|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|
|Actual Primary Completion Date :||October 1, 2019|
|Estimated Study Completion Date :||September 30, 2021|
- 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
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03975543
|CHNO XV-XX Paris - CIC 1423|
|Paris, France, 75012|