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OpenTrials
Active, Not Recruiting

NCT Number: NCT04285398

Prospective Natural History Study of Retinitis Pigmentosa

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.

Active, Not Recruiting

This study is active but is not currently recruiting participants.

Key information

Conditions

Retinitis Pigmentosa Blindness Cone-Rod Dystrophies Congenital, Hereditary, and Neonatal Diseases and Abnormalities Eye Diseases Eye Diseases, Hereditary Genetic Diseases, Inborn Nervous System Diseases Neurologic Manifestations Pathological Conditions, Signs and Symptoms Retinal Degeneration Retinal Diseases Retinal Dystrophies Sensation Disorders Signs and Symptoms Vision Disorders

Age range

18 year and older

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

CHNO XV-XX Paris - CIC 1423, Paris, France

Loading trial locations.

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

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.

Mobility Test

Other

Functional test to evaluate mobility and postural condition of patients

Primary outcomes

  1. 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).

  2. Fundus Autofluorescence (FAF)

    Time frame: 1 year

    Progression of disease as measured by FAF (Hyperautofluorescent ring)

Secondary outcomes

  1. Visual acuity

    Time frame: 1 year

    Progression of disease over time as measured by best corrected visual acuity (BCVA) (ETDRS, Snellen) and refraction

  2. Visual field

    Time frame: 1 year

    Progression of disease over time as measured by kinetic and static visual fields

  3. Full-field stimulus threshold (FST)

    Time frame: 1 year

    Progression of disease over time as measured by FST

  4. Color vision

    Time frame: 1 year

    15 Hue Desaturated Lanthony

  5. Dark adaptometry (DA)

    Time frame: 1 year

    Progression of disease over time as measured by DA

Sponsors and collaborators

Lead sponsor

SparingVision

Industry

Registry information

Official study title

Natural History Study of Retinitis Pigmentosa Due to RHO, PDE6a or PDE6b Mutations

Acronym: PHENOROD2

Important dates

Study start
2020
Primary completion
2026
Study completion
2026
First posted
Feb 26, 2020
Registry last updated
May 22, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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