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Active, not recruitingNCT04285398PHENOROD2Updated May 22, 2025

Prospective Natural History Study of Retinitis Pigmentosa

An interventional study of Ophthalmic examinations and Mobility Test in Retinitis Pigmentosa, sponsored by SparingVision. Active, not recruiting at 2 sites in 2 countries. Open to participants aged 18 Years and older. Per ClinicalTrials.gov, last updated 2025-05-22.

Sponsored by SparingVision · Not applicable, Interventional, and Screening

From the registry’s dates

  • Primary completion was expected by Jun 2026, 4 months ago, but the record still lists the study as active, not recruiting.
Phase
Not applicable
Study type
Interventional
Enrollment
82
Allocation
Non-randomized
Ages
18 Years and older
Sex
All
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Study 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.

Read the 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.

02

Conditions studied

  • 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
03

In context

Retinitis Pigmentosa

278 studies on the registry are indexed under Retinitis Pigmentosa; 72 are open to participants now.

This study's enrollment of 82 is above the median of 27 across 179 interventional studies indexed under Retinitis Pigmentosa.

Browse Retinitis Pigmentosa studies →

Lead sponsor

SparingVision is the lead sponsor of 5 studies on the registry; 2 are open to participants now.

Counted across the registry records on this site, refreshed daily.

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Who can participate

Ages eligible
18 Years and older
Sexes eligible
All
Accepts healthy volunteers
No

Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.

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 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

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
Terms in these criteria, in plain language(1)

Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.

Informed consent

Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.

You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.

05

Study design

Phase
Not applicable
Primary purpose
Screening
Allocation
Non-randomized
Intervention model
Parallel assignment
Masking
None (open label)
Enrollment
82 participants (actual)

Study arms

  • Other
    Study Group 1

    Four years follow up of patients with ophthalmic examination.

    Other: Ophthalmic examinations

  • Other
    Study Group 2

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

    Other: Ophthalmic examinations · Other: Mobility Test

Interventions

  • OtherOphthalmic 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.

  • OtherMobility Test

    Functional test to evaluate mobility and postural condition of patients

06

What researchers measure

Primary outcomes

  1. 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).

    Time frame: 1 year

  2. Fundus Autofluorescence (FAF)

    Progression of disease as measured by FAF (Hyperautofluorescent ring)

    Time frame: 1 year

Secondary outcomes

  1. Visual acuity

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

    Time frame: 1 year

  2. Visual field

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

    Time frame: 1 year

  3. Full-field stimulus threshold (FST)

    Progression of disease over time as measured by FST

    Time frame: 1 year

  4. Color vision

    15 Hue Desaturated Lanthony

    Time frame: 1 year

  5. Dark adaptometry (DA)

    Progression of disease over time as measured by DA

    Time frame: 1 year

07

Study locations

2 sites
08

Updates

Tracking since Sep 25, 2026
No changes since tracking began. The registry record was last updated on May 22, 2025, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗
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Registry details

Key details

Study ID
NCT04285398
Lead sponsor
SparingVision
Responsible party
Sponsor
First posted
Feb 26, 2020
Start date
Feb 12, 2020
Primary completion
Jun 30, 2026 (estimated)
Completion
Jun 30, 2026 (estimated)
Last update
May 22, 2025

Study contacts

Isabelle Audo, MD, PhD
principal investigator · CHNO XV-XX Paris - CIC 1423

Oversight

Data monitoring committee
No
FDA-regulated drug
No
FDA-regulated device
No
View the source record on ClinicalTrials.gov ↗

Not currently enrolling

This study is active, not recruiting, as verified in May 2025. You cannot join it, but the record below documents what was studied.

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Discussion

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