Prospective Natural History Study of Retinitis Pigmentosa

NCT04285398 | Active Not Recruiting

• 1 other identifier: PHENOROD2
• Study Type: interventional
• Target: 82
• Locations: 2 countries
• Sites: 2

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.

Conditions

Retinitis Pigmentosa

Keywords

RHO; PDE6A; PDE6B; Pathogenic Mutation; Prospective; Natural History; Retinal Disease; Eye Disease; Blindness; Inherited Eye Disease; Vision Disorder; Inherited Retinal Disorder; Rod-Cone Dystrophy

Outcome Measures

Primary Outcomes (2)

• Spectral Domain Optical Coherence tomography (SD-OCT)

  Progression of disease over time as measured by SD-OCT (EZ length, ELM length, ONL thickness, macular volume).

  1 year

• Fundus Autofluorescence (FAF)

  Progression of disease as measured by FAF (Hyperautofluorescent ring)

  1 year

Secondary Outcomes (5)

• Visual acuity

  1 year

• Visual field

  1 year

• Full-field stimulus threshold (FST)

  1 year

• Color vision

  1 year

• Dark adaptometry (DA)

  1 year

Study Arms (2)

Study Group 1

OTHER

Four years follow up of patients with ophthalmic examination.

Other: Ophthalmic examinations

Study Group 2

OTHER

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

Other: Ophthalmic examinations; Other: Mobility Test

Interventions

Ophthalmic examinations 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 1; Study Group 2

Mobility Test OTHER

Functional test to evaluate mobility and postural condition of patients

Study Group 2

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• RP with mutations affecting the RHO, PDE6A and PDE6B genes
• 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)

You may not qualify if:

• 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

Sponsors & Collaborators

• SparingVision: lead

Study Sites (2)

UPMC Eye Center

Pittsburgh, Pennsylvania, 15213, United States

Location

CHNO XV-XX Paris - CIC 1423

Paris, 75012, France

Location

MeSH Terms

Conditions

Retinitis Pigmentosa; Retinal Diseases; Eye Diseases; Blindness; Vision Disorders; Cone-Rod Dystrophies

Condition Hierarchy (Ancestors)

Eye Diseases, Hereditary; Retinal Dystrophies; Retinal Degeneration; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Sensation Disorders; Neurologic Manifestations; Nervous System Diseases; Signs and Symptoms; Pathological Conditions, Signs and Symptoms

Study Officials

• Isabelle Audo, MD, PhD

  CHNO XV-XX Paris - CIC 1423

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: SCREENING
• Intervention Model: PARALLEL
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: February 24, 2020
• First Posted: February 26, 2020
• Study Start: February 12, 2020
• Primary Completion (Estimated): June 30, 2026
• Study Completion (Estimated): June 30, 2026
• Last Updated: May 22, 2025

Record last verified: 2025-05

Locations

FR (1); US (1)