An observational study in Retinitis Pigmentosa, sponsored by University Hospital Tuebingen. Active, not recruiting at 1 site in Germany. Open to participants aged 5 Years and older. Per ClinicalTrials.gov, last updated 2026-05-06.
Sponsored by University Hospital Tuebingen · Observational
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.
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.
278 studies on the registry are indexed under Retinitis Pigmentosa; 72 are open to participants now.
This study's planned enrollment of 40 is below the median of 52 across 87 observational studies indexed under Retinitis Pigmentosa.
Browse Retinitis Pigmentosa studies →University Hospital Tuebingen is the lead sponsor of 490 studies on the registry; 108 are open to participants now.
Counted across the registry records on this site, refreshed daily.
40 patients with PDE6A, PDE6B, and RHO-based retinitis pigmentosa
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.
Exclusion Criteria:
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.
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.
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.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
15 patients with mutation in PDE6A
15 patients with mutation in PDE6B
10 patients with mutation in RHO
Optical coherence tomography (OCT)
OCT volume scans of the macular region, morphological examination
Time frame: 3-5 years
Fundus autofluorescence imaging
Fundus autofluorescence imaging, morphological examination
Time frame: 3-5 years
Wide-field fundus photography
Wide-field fundus photography, morphological examination
Time frame: 3-5 years
Adaptive optics imaging
Adaptive optics imaging, morphological examination
Time frame: 3-5 years
V1 morphology (MRI)
MRI, morphological examination
Time frame: 3-5 years
Diffusion Tensor Imaging (DTI)
DTI of the optical pathway , morphological examination
Time frame: 3-5 years
flavoprotein fluorescence (FPF)
FPF, metabolic readout
Time frame: 3-5 years
Retinal oxymetry
Retinal oxymetry, metabolic readout , Local dark adapted adaptation curves
Time frame: 3-5 years
Local dark adapted adaptation curves
Local dark adapted adaptation curves , metabolic readout ,
Time frame: 3-5 years
best corrected visual acuity (BCVA)
BCVA, functional diagnostics
Time frame: 3-5 years
Static cone perimetry and dark adapted perimetry
Static cone perimetry and dark adapted perimetry , functional diagnostics
Time frame: 3-5 years
chromatic pupil campimetry (CPC)
scotopic and photopic CPC , functional diagnostics
Time frame: 3-5 years
electroretinogram (ERG)
Functional ERG (new flickers 9, 15, 31 Hertz) , functional diagnostics
Time frame: 3-5 years
Virtual reality (VR) functional test
VR functional test, functional diagnostics
Time frame: 3-5 years
Plan to share: No
No publications or documents are linked to this record.
Started Nov 2023 (actual). Primary completion is estimated for Mar 2027, 40 months after the start.
Of 48 observational studies under Retinitis Pigmentosa, half reached primary completion within 76 months of starting (the median), counting those still running; a quarter within 28. This study's planned 40 months is below that.
How these figures are worked out, and which studies are left out of them.
This study is active, not recruiting, as verified in Apr 2026. You cannot join it, but the record below documents what was studied.
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