Prospective Natural History Study of Retinitis Pigmentosa

Not Applicable

Active, not recruiting

• Conditions: Retinitis Pigmentosa
• Interventions: Other: Ophthalmic examinations; Other: Mobility Test

• Registration Number: NCT04285398
• Lead Sponsor: SparingVision

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.

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 Timeline

• Study Start: 2020-02-12
• Study First Submitted: 2020-02-24
• Study First Submitted QC: 2020-02-24
• Study First Posted: 2020-02-26
• Status Verified: 2022-04
• Last Update Submitted: 2022-04-19
• Last Update Posted: 2022-04-20
• Primary Completion: 2026-06-30
• Study Completion: 2026-06-30

Recruitment & Eligibility

• Status: ACTIVE_NOT_RECRUITING
• Sex: All
• Target Recruitment: 82

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)

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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

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Study & Design

• Study Type: INTERVENTIONAL
• Study Design: PARALLEL

Arm && Interventions

Group	Intervention	Description
Study Group 1	Ophthalmic examinations	Four years follow up of patients with ophthalmic examination.
Study Group 2	Ophthalmic examinations	Four years follow-up of patients with ophthalmic examination and mobility testing.
Study Group 2	Mobility Test	Four years follow-up of patients with ophthalmic examination and mobility testing.

Primary Outcome Measures

Name	Time	Method
Fundus Autofluorescence (FAF)	1 year	Progression of disease as measured by FAF (Hyperautofluorescent ring)
Spectral Domain Optical Coherence tomography (SD-OCT)	1 year	Progression of disease over time as measured by SD-OCT (EZ length, ELM length, ONL thickness, macular volume).

Secondary Outcome Measures

Name	Time	Method
Visual acuity	1 year	Progression of disease over time as measured by best corrected visual acuity (BCVA) (ETDRS, Snellen) and refraction
Visual field	1 year	Progression of disease over time as measured by kinetic and static visual fields
Full-field stimulus threshold (FST)	1 year	Progression of disease over time as measured by FST
Color vision	1 year	15 Hue Desaturated Lanthony
Dark adaptometry (DA)	1 year	Progression of disease over time as measured by DA

Trial Locations

Locations (2)

CHNO XV-XX Paris - CIC 1423; 🇫🇷 Paris, France

UPMC Eye Center; 🇺🇸 Pittsburgh, Pennsylvania, United States