Retinitis PigmentosaNCT06323772
Natural History Study in Patients With PDE6A-, PDE6B- and RHO-linked Retinitis Pigmentosa
An observational study of Retinitis Pigmentosa, run by University Hospital Tuebingen at 1 site in Germany.
Trial summary
The aim of the study is to apply a novel clinical investigation protocol in patients with Phosphodiesterase 6A (PDE6A), PDE6B and Rhodopsin (RHO)-based retinitis pigmentosa. This novel, multimodal clinical examination protocol describes and correlates structural, functional and metabolic aspects during natural disease… Read more about this study
- Who is it for?
- Ages 5 years and older
- Conditions the study is for
- Retinitis Pigmentosa
- How many people
- 40 participants
- Where
- 1 siteGermany
- Study dates
- 17 Nov 2023to Mar 2027
- Phase
- Observational
- 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 5 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: 40 patients with PDE6A, PDE6B, and RHO-based retinitis pigmentosa
Who may be able to join
- Age: from 5 years of age
- Patient with PDE6A, PDE6B, and RHO-based retinitis pigmentosa
- Patient and/or legal representatives are willing and able to give written informed consent
Who cannot join
- severe general disease, that would make longer examinations not possible
Trial locations and contacts
1 site in 1 country.
Germany1 site
Institute for Ophthalmic Research, University Tübingen
Tübingen, Baden-Wurttemberg, 72076
About this study
Official title: Exploration of New Sensitive Clinical Readouts and Biomarkers That Can be Used as Clinical Endpoints Tailored to Monitor Treatment Effects in PDE6A-, PDE6B- and RHO-linked Retinitis Pigmentosa: a Non-interventional Trial
The aim of the study is to apply a novel clinical investigation protocol in patients with Phosphodiesterase 6A (PDE6A), PDE6B and Rhodopsin (RHO)-based retinitis pigmentosa. This novel, multimodal clinical examination protocol describes and correlates structural, functional and metabolic aspects during natural disease development.
Test-retest variability of new measurements as well as correlations of the structural, functional, and metabolic changes will be defined to be able to define well-suited readouts for safety and efficacy of future treatment developments before they reach the clinical phase.
Read the detailed description
Hereditary retinal diseases such as retinitis pigmentosa are rare genetic diagnoses of the retina with chronic lifelong progression, often leading to blindness. Progression varies greatly between individuals. PDE6A, PDE6B and RHO related retinitis pigmentosa phenotypes are typical retinal dystrophies with early onset of rod dysfunctions and a rather slow progression of the cone dysfunction with progression to complete blindness in later adulthood.
Classical gene therapy could improve the function of the rods if successful, although the changes may only be very small and need to be measured using sensitive methods. In contrast, neuroprotective therapeutic approaches could slow down these slow processes even further, which would be extremely difficult to prove as clinical efficacy in a future clinical trial with very individual courses.
In order to have clinical examination methods in the future that can prove the safety and efficacy of neuroprotective approaches, very sensitive examination methods are needed whose test variability is also known. In addition, a neuroprotective treatment method can positively influence the metabolic state of the retina, which, in contrast to slowing down a slow degeneration process, would be a demonstrable effect if the metabolism of the retina can be examined in a clinically relevant way.
For these reasons, the investigators will focus on the above-mentioned genotypes of retinitis pigmentosa in a non-interventional study in order to collect and correlate structural, functional and metabolic examinations of the retina.
- Conditions
- Retinitis Pigmentosa
- Keywords
- Retinal Diseases, Eye Diseases, Eye Diseases, Hereditary, Retinal Dystrophies, Retinal Degeneration, Genetic Diseases, Inborn, Retinitis Pigmentosa, PDE6A, PDE6B, RHO, gene therapy trial
- Medical subject headings
- Retinitis Pigmentosa, Retinal Diseases, Eye Diseases, Eye Diseases, Hereditary, Retinal Dystrophies, Retinal Degeneration, Genetic Diseases, Inborn, Night Blindness, Congenital Stationary, Autosomal Dominant 2
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| PDE6A patients | 15 patients with mutation in PDE6A | |
| PDE6B patients | 15 patients with mutation in PDE6B | |
| RHO patients | 10 patients with mutation in RHO |
What is being measured
The primary outcome is the main question the study is designed to answer.
Optical coherence tomography (OCT)
OCT volume scans of the macular region, morphological examination
Measured: 3-5 years
Fundus autofluorescence imaging
Fundus autofluorescence imaging, morphological examination
Measured: 3-5 years
Wide-field fundus photography
Wide-field fundus photography, morphological examination
Measured: 3-5 years
Adaptive optics imaging
Adaptive optics imaging, morphological examination
Measured: 3-5 years
V1 morphology (MRI)
MRI, morphological examination
Measured: 3-5 years
Diffusion Tensor Imaging (DTI)
DTI of the optical pathway , morphological examination
Measured: 3-5 years
flavoprotein fluorescence (FPF)
FPF, metabolic readout
Measured: 3-5 years
Retinal oxymetry
Retinal oxymetry, metabolic readout , Local dark adapted adaptation curves
Measured: 3-5 years
Local dark adapted adaptation curves
Local dark adapted adaptation curves , metabolic readout ,
Measured: 3-5 years
best corrected visual acuity (BCVA)
BCVA, functional diagnostics
Measured: 3-5 years
Static cone perimetry and dark adapted perimetry
Static cone perimetry and dark adapted perimetry , functional diagnostics
Measured: 3-5 years
chromatic pupil campimetry (CPC)
scotopic and photopic CPC , functional diagnostics
Measured: 3-5 years
electroretinogram (ERG)
Functional ERG (new flickers 9, 15, 31 Hertz) , functional diagnostics
Measured: 3-5 years
Virtual reality (VR) functional test
VR functional test, functional diagnostics
Measured: 3-5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted21 Mar 2024
- Study start17 Nov 2023
- Primary completionMar 2027 (estimated)
- Study completionMar 2027 (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.
- More trials run by University Hospital TuebingenThe sponsor's other registered studies.
- 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
- Prospective
- Enrolment
- 40 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University Hospital Tuebingen
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Katarina Stingl, Prof, Principal investigator, Department for Opthalmology
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06323772
- Sponsor's protocol ID
- RDC-RP-01
- Status last verified
- Apr 2026
- First submitted
- 7 Mar 2024
- Last updated
- 6 May 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 6 May 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Exploration of New Sensitive Clinical Readouts and Biomarkers That Can be Used as Clinical Endpoints Tailored to Monitor Treatment Effects in PDE6A-, PDE6B- and RHO-linked Retinitis Pigmentosa: a Non-interventional Trial
- ClinicalTrials.gov ID
- NCT06323772
- Acronym / sponsor ID
- RDC-RP-01
- Conditions
- Retinitis Pigmentosa
- Keywords
- Retinal Diseases, Eye Diseases, Eye Diseases, Hereditary, Retinal Dystrophies, Retinal Degeneration, Genetic Diseases, Inborn, Retinitis Pigmentosa, PDE6A, PDE6B, RHO
- Study type
- Observational
- Recruitment status
- Active, not recruiting
- Enrolment
- 40 participants (estimated)
- Lead sponsor
- University Hospital TuebingenUniversity, hospital or other
- Study start
- 17 Nov 2023 (actual)
- Primary completion
- Mar 2027 (estimated)
- Study completion
- Mar 2027 (estimated)
- First posted
- 21 Mar 2024 (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.
The aim of the study is to apply a novel clinical investigation protocol in patients with Phosphodiesterase 6A (PDE6A), PDE6B and Rhodopsin (RHO)-based retinitis pigmentosa. This novel, multimodal clinical examination protocol describes and correlates structural, functional and metabolic aspects during natural disease development.
Test-retest variability of new measurements as well as correlations of the structural, functional, and metabolic changes will be defined to be able to define well-suited readouts for safety and efficacy of future treatment developments before they reach the clinical phase.
Detailed description
Hereditary retinal diseases such as retinitis pigmentosa are rare genetic diagnoses of the retina with chronic lifelong progression, often leading to blindness. Progression varies greatly between individuals. PDE6A, PDE6B and RHO related retinitis pigmentosa phenotypes are typical retinal dystrophies with early onset of rod dysfunctions and a rather slow progression of the cone dysfunction with progression to complete blindness in later adulthood.
Classical gene therapy could improve the function of the rods if successful, although the changes may only be very small and need to be measured using sensitive methods. In contrast, neuroprotective therapeutic approaches could slow down these slow processes even further, which would be extremely difficult to prove as clinical efficacy in a future clinical trial with very individual courses.
In order to have clinical examination methods in the future that can prove the safety and efficacy of neuroprotective approaches, very sensitive examination methods are needed whose test variability is also known. In addition, a neuroprotective treatment method can positively influence the metabolic state of the retina, which, in contrast to slowing down a slow degeneration process, would be a demonstrable effect if the metabolism of the retina can be examined in a clinically relevant way.
For these reasons, the investigators will focus on the above-mentioned genotypes of retinitis pigmentosa in a non-interventional study in order to collect and correlate structural, functional and metabolic examinations of the retina.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| PDE6A patients | – | –15 patients with mutation in PDE6A |
| PDE6B patients | – | –15 patients with mutation in PDE6B |
| RHO patients | – | –10 patients with mutation in RHO |
Who may qualify
- Ages
- 5 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- 40 patients with PDE6A, PDE6B, and RHO-based retinitis pigmentosa
Key inclusion criteria (3 listed)
- Age: from 5 years of age
- Patient with PDE6A, PDE6B, and RHO-based retinitis pigmentosa
- Patient and/or legal representatives are willing and able to give written informed consent
Key exclusion criteria (1 listed)
- severe general disease, that would make longer examinations not possible
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
Optical coherence tomography (OCT)
Time frame: 3-5 years
OCT volume scans of the macular region, morphological examination
Fundus autofluorescence imaging
Time frame: 3-5 years
Fundus autofluorescence imaging, morphological examination
Wide-field fundus photography
Time frame: 3-5 years
Wide-field fundus photography, morphological examination
Adaptive optics imaging
Time frame: 3-5 years
Adaptive optics imaging, morphological examination
V1 morphology (MRI)
Time frame: 3-5 years
MRI, morphological examination
Diffusion Tensor Imaging (DTI)
Time frame: 3-5 years
DTI of the optical pathway , morphological examination
flavoprotein fluorescence (FPF)
Time frame: 3-5 years
FPF, metabolic readout
Retinal oxymetry
Time frame: 3-5 years
Retinal oxymetry, metabolic readout , Local dark adapted adaptation curves
Local dark adapted adaptation curves
Time frame: 3-5 years
Local dark adapted adaptation curves , metabolic readout ,
best corrected visual acuity (BCVA)
Time frame: 3-5 years
BCVA, functional diagnostics
Static cone perimetry and dark adapted perimetry
Time frame: 3-5 years
Static cone perimetry and dark adapted perimetry , functional diagnostics
chromatic pupil campimetry (CPC)
Time frame: 3-5 years
scotopic and photopic CPC , functional diagnostics
electroretinogram (ERG)
Time frame: 3-5 years
Functional ERG (new flickers 9, 15, 31 Hertz) , functional diagnostics
Virtual reality (VR) functional test
Time frame: 3-5 years
VR functional test, functional diagnostics
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 6 May 2026.
- Individual participant dataSharing planned: No
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Universal Rare Gene Study: A Registry and Natural History Study of Retinal Dystrophies Associated With Rare Disease-Causing Genetic Variants
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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.
Katarina Stingl, Prof principal investigator
Department for Opthalmology
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, run by University Hospital Tuebingen at 1 site in Germany.
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 3 inclusion and 1 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 6 May 2026. 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 Germany. 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?
Optical coherence tomography (OCT) (time frame: 3-5 years). The study lists 14 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 6 May 2026.