Prospective Natural History Study of Retinitis Pigmentosa (PHENOROD2)

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

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.

Study Overview

• Status: Active, not recruiting
• Conditions: Retinitis Pigmentosa
• Intervention / Treatment: Other: Ophthalmic examinations; Other: Mobility Test

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.

• Study Type: Interventional
• Enrollment (Actual): 82
• Phase: Not Applicable

Contacts and Locations

Study Locations

• France
  • Paris, France, 75012
    • CHNO XV-XX Paris - CIC 1423
• United States
  • Pennsylvania
    • Pittsburgh, Pennsylvania, United States, 15213
      • UPMC Eye Center

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 16 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

Description

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

Study Plan

How is the study designed?

Design Details

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

Number of Arms

2

Arms and Interventions

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

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

Collaborators and Investigators

• Sponsor: SparingVision
• Investigators: Principal Investigator: Isabelle Audo, MD, PhD, CHNO XV-XX Paris - CIC 1423

Study record dates

Study Major Dates

• Study Start (Actual): February 12, 2020
• Primary Completion (Anticipated): June 30, 2026
• Study Completion (Anticipated): June 30, 2026

Study Registration Dates

• First Submitted: February 24, 2020
• First Submitted That Met QC Criteria: February 24, 2020
• First Posted (Actual): February 26, 2020

Study Record Updates

• Last Update Posted (Actual): April 20, 2022
• Last Update Submitted That Met QC Criteria: April 19, 2022
• Last Verified: April 1, 2022

More Information

Terms related to this study

• Keywords: Natural History; Retinal Disease; Prospective; Blindness; Eye Disease; PDE6A; Rod-Cone Dystrophy; RHO; PDE6B; Pathogenic Mutation; Inherited Eye Disease; Vision Disorder; Inherited Retinal Disorder
• Additional Relevant MeSH Terms: Eye Diseases; Retinal Degeneration; Retinal Diseases; Genetic Diseases, Inborn; Eye Diseases, Hereditary; Retinal Dystrophies; Retinitis; Retinitis Pigmentosa
• Other Study ID Numbers: PHENOROD2

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No