Retinitis PigmentosaPHENOROD2NCT04285398
Prospective Natural History Study of Retinitis Pigmentosa
A study testing Ophthalmic examinations and Mobility Test in people with Retinitis Pigmentosa, run by SparingVision at 2 sites in 2 countries.
Trial 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 more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Retinitis Pigmentosa
- What is being tested?
- Ophthalmic examinations and Mobility Test
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 82 participants
- Where
- 2 sitesin 2 countries
- Study dates
- 12 Feb 2020to 30 Jun 2026
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- 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)
Who cannot join
- 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
Trial locations and contacts
2 sites in 2 countries.
2 sites in 2 countries
About this study
Official title: Natural History Study of Retinitis Pigmentosa Due to RHO, PDE6a or PDE6b Mutations
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.
- Conditions
- Retinitis Pigmentosa
- Being tested
- Ophthalmic examinations, Mobility Test
- 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
- Medical subject headings
- Retinitis Pigmentosa, Retinal Diseases, Eye Diseases, Blindness, Vision Disorders, Cone-Rod Dystrophies
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Ophthalmic examinationsOther
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 TestOther
Functional test to evaluate mobility and postural condition of patients
| Study group | Role | What they receive |
|---|---|---|
| Study Group 1 | Other | Four years follow up of patients with ophthalmic examination. Receives: Other: Ophthalmic examinations |
| Study Group 2 | Other | Four years follow-up of patients with ophthalmic examination and mobility testing. Receives: Other: Ophthalmic examinations; Other: Mobility Test |
What is being measured
The primary outcome is the main question the study is designed to answer.
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).
Measured: 1 year
Fundus Autofluorescence (FAF)
Progression of disease as measured by FAF (Hyperautofluorescent ring)
Measured: 1 year
Secondary outcomes (5)
Visual acuity
Progression of disease over time as measured by best corrected visual acuity (BCVA) (ETDRS, Snellen) and refraction
Measured: 1 year
Visual field
Progression of disease over time as measured by kinetic and static visual fields
Measured: 1 year
Full-field stimulus threshold (FST)
Progression of disease over time as measured by FST
Measured: 1 year
Color vision
15 Hue Desaturated Lanthony
Measured: 1 year
Dark adaptometry (DA)
Progression of disease over time as measured by DA
Measured: 1 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted26 Feb 2020
- Study start12 Feb 2020
- Primary completion30 Jun 2026 (estimated)
- Study completion30 Jun 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Retinitis PigmentosaStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Screening
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Enrolment
- 82 participants (actual)
Sponsor and investigators
- Lead sponsor
- SparingVision
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Isabelle Audo, MD, PhD, Principal investigator, CHNO XV-XX Paris - CIC 1423
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04285398
- Sponsor's protocol ID
- PHENOROD2
- Acronym
- PHENOROD2
- Status last verified
- May 2025
- First submitted
- 24 Feb 2020
- Last updated
- 22 May 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 22 May 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Natural History Study of Retinitis Pigmentosa Due to RHO, PDE6a or PDE6b Mutations
- ClinicalTrials.gov ID
- NCT04285398
- Acronym / sponsor ID
- PHENOROD2 / PHENOROD2
- Conditions
- Retinitis Pigmentosa
- Keywords
- RHO, PDE6A, PDE6B, Pathogenic Mutation, Prospective, Natural History, Retinal Disease, Eye Disease
- Study type
- Interventional
- Recruitment status
- Active, not recruiting
- Enrolment
- 82 participants (actual)
- Lead sponsor
- SparingVisionIndustry (pharma, biotech, devices)
- Study start
- 12 Feb 2020 (actual)
- Primary completion
- 30 Jun 2026 (estimated)
- Study completion
- 30 Jun 2026 (estimated)
- First posted
- 26 Feb 2020 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Primary purpose
- Screening
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Study Group 1 | Other | Other: Ophthalmic examinationsFour years follow up of patients with ophthalmic examination. |
| Study Group 2 | Other | Other: Ophthalmic examinations, Other: Mobility TestFour years follow-up of patients with ophthalmic examination and mobility testing. |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (6 listed)
- 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
Key exclusion criteria (3 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Ophthalmic examinationsSlit-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. | Other | Study Group 1, Study Group 2 |
| Mobility TestFunctional test to evaluate mobility and postural condition of patients | Other | Study Group 2 |
Primary outcome
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)
5 secondary outcomes
Visual acuity
Time frame: 1 year
Visual field
Time frame: 1 year
Full-field stimulus threshold (FST)
Time frame: 1 year
Color vision
Time frame: 1 year
Dark adaptometry (DA)
Time frame: 1 year
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 22 May 2025.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Isabelle Audo, MD, PhD principal investigator
CHNO XV-XX Paris - CIC 1423
2 sites in 2 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Ophthalmic examinations and Mobility Test in people with Retinitis Pigmentosa, run by SparingVision at 2 sites in 2 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 6 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: under way, not looking for participants, as of the sponsor's last update on 22 May 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in United States, France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Spectral Domain Optical Coherence tomography (SD-OCT) (time frame: 1 year). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 22 May 2025.