Prospective Natural History Study of Retinitis Pigmentosa

Overview

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.

Full Title of Study: “One-Year Natural History Study of Retinitis Pigmentosa Due to RHO, PDE6A or PDE6B Mutations”

Study Type

  • Study Type: Interventional
  • Study Design
    • Allocation: Non-Randomized
    • Intervention Model: Parallel Assignment
    • Primary Purpose: Screening
    • Masking: None (Open Label)
  • Study Primary Completion Date: June 1, 2021

Detailed Description

This is an open, longitudinal, ambispective, single center study to describe one-year 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.

Interventions

  • Other: Ophthalmic examination
    • Visual Acuity, Visual Field, FST, Dark adaptometry, Color Vision testing, OCT and FAF.
  • Other: Mobility Test
    • Functional test to evaluate mobility and postural condition of patients

Arms, Groups and Cohorts

  • Other: Study Group 1
    • One year follow up of patients with ophthalmic examination.
  • Other: Study Group 2
    • One year follow-up of patients with ophthalmic examination and mobility testing.

Clinical Trial Outcome Measures

Primary Measures

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

Secondary Measures

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

Participating in This Clinical Trial

Inclusion Criteria

  • RP with mutations affecting the RHO, PDE6A and PDE6B genes
  • Visual acuity ≥ 20/200 for at least one eye
  • Binocular Visual field diameter ≥ 5° as measured on the Goldmann III-4e isopter

Exclusion Criteria

  • Patients with any other gene mutation known to be involved in RP
  • Patients with other ocular disorder likely to impact the visual function
  • Pregnant or breastfeeding women

Gender Eligibility: All

Minimum Age: 18 Years

Maximum Age: N/A

Are Healthy Volunteers Accepted: No

Investigator Details

  • Lead Sponsor
    • SparingVision
  • Provider of Information About this Clinical Study
    • Sponsor
  • Overall Official(s)
    • Saddek Mohand-Saïd, MD, PhD, Principal Investigator, CHNO XV-XX Paris – CIC 1423
  • Overall Contact(s)
    • Florence Allouche, +33143462060, info@sparingvision.com

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