Retrospective Natural History Study of Retinitis Pigmentosa (PHENOROD1)

August 3, 2021 updated by: SparingVision

Natural History Study of Retinitis Pigmentosa in Patient Carrying Pathogenic Mutations in RHO, PDE6A or PDE6B.

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 (RP)

Detailed Description

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

Enrollment (Actual)

113

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

France
- - Paris, France, 75012
    - CHNO XV-XX Paris - CIC 1423

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

Child
Adult
Older Adult

Accepts Healthy Volunteers

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Subjects with RP caused by pathogenic mutations in RHO, PDE6A or PDE6B gene mutations.

Description

Inclusion Criteria:

Patients with RP caused by pathogenic mutations in RHO, PDE6A or PDE6B genes.

Exclusion Criteria:

Patients with a pathogenic mutation in any other gene known to be involved in RP.
Patients with any ocular disorder other than RP, likely to impact the retinal function.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Observational Models: Cohort
Time Perspectives: Retrospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Visual acuity Time Frame: 2 years	Progression of disease over time as measured by best corrected visual acuity (BCVA) (ETDRS, Snellen) and refraction	2 years
Visual field Time Frame: 2 years	Progression of disease over time as measured by visual fields (kinetic and static)	2 years
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).	2 years
Fundus Autofluorescence (FAF) Time Frame: 2 years	Progression of disease as measured by FAF (Hyperautofluorescent ring)	2 years

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Patients characteristics Time Frame: 2 years	Age, gender, medical and surgical history, family history and concomitant treatments	2 years
Clinical diagnosis Time Frame: baseline (At diagnosis)	Age and description at onset, clinical signs, relevant treatments and an ophthalmological anamnesis	baseline (At diagnosis)
Genetic diagnosis Time Frame: baseline (At diagnosis)	Mutated gene, identified pathogenic mutation	baseline (At diagnosis)
Electroretinogram (ERG) Time Frame: baseline (At diagnosis)	Photopic and scotopic full field	baseline (At diagnosis)
Color vision Time Frame: 2 years	15 Hue Desaturated Lanthony	2 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

SparingVision

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

October 1, 2018

Primary Completion (Actual)

October 1, 2019

Study Completion (Anticipated)

September 30, 2021

Study Registration Dates

First Submitted

June 4, 2019

First Submitted That Met QC Criteria