Prospective Natural History Study of Retinitis Pigmentosa

NCT ID: NCT04285398

Last Updated: 2025-05-22

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

ACTIVE_NOT_RECRUITING

Clinical Phase

NA

Total Enrollment

82 participants

Study Classification

INTERVENTIONAL

Study Start Date

2020-02-12

Study Completion Date

2026-06-30

Brief Summary

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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.

Detailed Description

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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.

Conditions

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Retinitis Pigmentosa

Study Design

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Allocation Method

NON_RANDOMIZED

Intervention Model

PARALLEL

Primary Study Purpose

SCREENING

Blinding Strategy

NONE

Study Groups

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Study Group 1

Four years follow up of patients with ophthalmic examination.

Group Type OTHER

Ophthalmic examinations

Intervention Type OTHER

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.

Study Group 2

Four years follow-up of patients with ophthalmic examination and mobility testing.

Group Type OTHER

Ophthalmic examinations

Intervention Type OTHER

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.

Mobility Test

Intervention Type OTHER

Functional test to evaluate mobility and postural condition of patients

Interventions

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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.

Intervention Type OTHER

Mobility Test

Functional test to evaluate mobility and postural condition of patients

Intervention Type OTHER

Eligibility Criteria

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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
Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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SparingVision

INDUSTRY

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Isabelle Audo, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

CHNO XV-XX Paris - CIC 1423

Locations

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UPMC Eye Center

Pittsburgh, Pennsylvania, United States

Site Status

CHNO XV-XX Paris - CIC 1423

Paris, , France

Site Status

Countries

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United States France

Other Identifiers

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PHENOROD2

Identifier Type: -

Identifier Source: org_study_id

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