Retinitis Pigmentosa (RP)PHENOROD1NCT03975543
Retrospective Natural History Study of Retinitis Pigmentosa
An observational study of Retinitis Pigmentosa (RP), run by SparingVision at 1 site in France.
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?
- Any age
- Conditions the study is for
- Retinitis Pigmentosa (RP)
- How many people
- 113 participants
- Where
- 1 siteFrance
- Study dates
- 1 Oct 2018to 30 Sep 2021
- Phase
- Observational
- Are there results?
- None posted in the registry
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 Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Subjects with RP caused by pathogenic mutations in RHO, PDE6A or PDE6B gene mutations.
Who may be able to join
- Patients with RP caused by pathogenic mutations in RHO, PDE6A or PDE6B genes.
Who cannot join
- Patients with a pathogenic mutation in any other gene known to be involved in RP.
- Patients with any ocular disorder other than RP, likely to impact the retinal function.
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Natural History Study of Retinitis Pigmentosa in Patient Carrying Pathogenic Mutations in RHO, PDE6A or PDE6B.
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 a retrospective, longitudinal, observational case history study to determine the natural history of rods and cones degeneration in patients diagnosed with RP caused by pathogenic mutations in genes with selective expression in rods: rhodopsin (RHO), phosphodiesterase 6A (PDE6A) or phosphodiesterase 6B (PDE6B).
113 participants will be enrolled in this study at the single center: CHNO-CIC Quinze-Vingt Paris in France.
- Conditions
- Retinitis Pigmentosa (RP)
- Keywords
- Retinitis Pigmentosa, RHO, PDE6A, PDE6B, Pathogenic mutation, Retrospective, Natural History, Retinal Disease, Eye Diseases, Blindness, Inherited Eye Diseases, Vision Disorders, Inherited Retinal Disorders, Rod-Cone Dystrophy
- Medical subject headings
- Retinitis Pigmentosa, Retinal Diseases, Eye Diseases, Blindness, Vision Disorders, Cone-Rod Dystrophies
What is being measured
The primary outcome is the main question the study is designed to answer.
Visual acuity
Progression of disease over time as measured by best corrected visual acuity (BCVA) (ETDRS, Snellen) and refraction
Measured: 2 years
Visual field
Progression of disease over time as measured by visual fields (kinetic and static)
Measured: 2 years
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: 2 years
Fundus Autofluorescence (FAF)
Progression of disease as measured by FAF (Hyperautofluorescent ring)
Measured: 2 years
Secondary outcomes (5)
Patients characteristics
Age, gender, medical and surgical history, family history and concomitant treatments
Measured: 2 years
Clinical diagnosis
Age and description at onset, clinical signs, relevant treatments and an ophthalmological anamnesis
Measured: baseline (At diagnosis)
Genetic diagnosis
Mutated gene, identified pathogenic mutation
Measured: baseline (At diagnosis)
Electroretinogram (ERG)
Photopic and scotopic full field
Measured: baseline (At diagnosis)
Color vision
15 Hue Desaturated Lanthony
Measured: 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted5 Jun 2019
- Study start1 Oct 2018
- Primary completion1 Oct 2019
- Study completion30 Sep 2021 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Retinitis Pigmentosa (RP)Studies 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
- Observational
- Observational model
- Cohort
- Time perspective
- Retrospective
- Enrolment
- 113 participants (actual)
Sponsor and investigators
- Lead sponsor
- SparingVision
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03975543
- Sponsor's protocol ID
- PHENOROD1
- Acronym
- PHENOROD1
- Status last verified
- Aug 2021
- First submitted
- 4 Jun 2019
- Last updated
- 4 Aug 2021
- 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 4 Aug 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Natural History Study of Retinitis Pigmentosa in Patient Carrying Pathogenic Mutations in RHO, PDE6A or PDE6B.
- ClinicalTrials.gov ID
- NCT03975543
- Acronym / sponsor ID
- PHENOROD1 / PHENOROD1
- Conditions
- Retinitis Pigmentosa (RP)
- Keywords
- Retinitis Pigmentosa, RHO, PDE6A, PDE6B, Pathogenic mutation, Retrospective, Natural History, Retinal Disease
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 113 participants (actual)
- Lead sponsor
- SparingVisionIndustry (pharma, biotech, devices)
- Study start
- 1 Oct 2018 (actual)
- Primary completion
- 1 Oct 2019 (actual)
- Study completion
- 30 Sep 2021 (estimated)
- First posted
- 5 Jun 2019 (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 a retrospective, longitudinal, observational case history study to determine the natural history of rods and cones degeneration in patients diagnosed with RP caused by pathogenic mutations in genes with selective expression in rods: rhodopsin (RHO), phosphodiesterase 6A (PDE6A) or phosphodiesterase 6B (PDE6B).
113 participants will be enrolled in this study at the single center: CHNO-CIC Quinze-Vingt Paris in France.
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Subjects with RP caused by pathogenic mutations in RHO, PDE6A or PDE6B gene mutations.
Key inclusion criteria (1 listed)
- Patients with RP caused by pathogenic mutations in RHO, PDE6A or PDE6B genes.
Key exclusion criteria (2 listed)
- Patients with a pathogenic mutation in any other gene known to be involved in RP.
- Patients with any ocular disorder other than RP, likely to impact the retinal function.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Visual acuity
Time frame: 2 years
Progression of disease over time as measured by best corrected visual acuity (BCVA) (ETDRS, Snellen) and refraction
Visual field
Time frame: 2 years
Progression of disease over time as measured by visual fields (kinetic and static)
Spectral Domain Optical Coherence tomography (SD-OCT)
Time frame: 2 years
Progression of disease over time as measured by SD-OCT (EZ length, ELM length, ONL thickness, macular volume).
Fundus Autofluorescence (FAF)
Time frame: 2 years
Progression of disease as measured by FAF (Hyperautofluorescent ring)
5 secondary outcomes
Patients characteristics
Time frame: 2 years
Clinical diagnosis
Time frame: baseline (At diagnosis)
Genetic diagnosis
Time frame: baseline (At diagnosis)
Electroretinogram (ERG)
Time frame: baseline (At diagnosis)
Color vision
Time frame: 2 years
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 4 Aug 2021.
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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.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Retinitis Pigmentosa (RP), run by SparingVision at 1 site in France.
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 1 inclusion and 2 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: status not confirmed, as of the sponsor's last update on 4 Aug 2021. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in 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?
Results are not available in the source record.
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?
Visual acuity (time frame: 2 years). The study lists 4 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 4 Aug 2021.