PHENOROD1: Retrospective Natural History Study of Retinitis Pigmentosa

Sponsor

SparingVision (Industry)

Overall Status

Active, not recruiting

CT.gov ID

NCT03975543

Collaborator

(none)

113

Enrollment

Location

Anticipated Duration (Months)

3.1

Patients Per Site Per Month

Study Details

Study Description

Brief Summary

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.

Condition or Disease	Intervention/Treatment	Phase
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 Design

Study Type:

Observational

Actual Enrollment :

113 participants

Observational Model:

Cohort

Time Perspective:

Retrospective

Official Title:

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

Actual Study Start Date :

Oct 1, 2018

Actual Primary Completion Date :

Oct 1, 2019

Anticipated Study Completion Date :

Sep 30, 2021

Outcome Measures

Primary Outcome Measures

Visual acuity [2 years]
Progression of disease over time as measured by best corrected visual acuity (BCVA) (ETDRS, Snellen) and refraction
Visual field [2 years]
Progression of disease over time as measured by visual fields (kinetic and static)
Spectral Domain Optical Coherence tomography (SD-OCT) [2 years]
Progression of disease over time as measured by SD-OCT (EZ length, ELM length, ONL thickness, macular volume).
Fundus Autofluorescence (FAF) [2 years]
Progression of disease as measured by FAF (Hyperautofluorescent ring)

Secondary Outcome Measures

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

Eligibility Criteria

Criteria

Ages Eligible for Study:

N/A and Older

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

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.