Retinitis Pigmentosa
Conditions
Keywords
Retinal Diseases, Eye Diseases, Eye Diseases, Hereditary, Retinal Dystrophies, Retinal Degeneration, Genetic Diseases, Inborn, Retinitis Pigmentosa, PDE6A, PDE6B, RHO, gene therapy trial
Brief 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 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.
Interventions
None listed
Sponsors
University Hospital Tuebingen
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
5 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* 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
Exclusion criteria
* severe general disease, that would make longer examinations not possible
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Optical coherence tomography (OCT) | 3-5 years | OCT volume scans of the macular region, morphological examination |
| Fundus autofluorescence imaging | 3-5 years | Fundus autofluorescence imaging, morphological examination |
| Wide-field fundus photography | 3-5 years | Wide-field fundus photography, morphological examination |
| Adaptive optics imaging | 3-5 years | Adaptive optics imaging, morphological examination |
| V1 morphology (MRI) | 3-5 years | MRI, morphological examination |
| Diffusion Tensor Imaging (DTI) | 3-5 years | DTI of the optical pathway , morphological examination |
| flavoprotein fluorescence (FPF) | 3-5 years | FPF, metabolic readout |
| Retinal oxymetry | 3-5 years | Retinal oxymetry, metabolic readout , Local dark adapted adaptation curves |
| Local dark adapted adaptation curves | 3-5 years | Local dark adapted adaptation curves , metabolic readout , |
| best corrected visual acuity (BCVA) | 3-5 years | BCVA, functional diagnostics |
| Static cone perimetry and dark adapted perimetry | 3-5 years | Static cone perimetry and dark adapted perimetry , functional diagnostics |
| chromatic pupil campimetry (CPC) | 3-5 years | scotopic and photopic CPC , functional diagnostics |
| electroretinogram (ERG) | 3-5 years | Functional ERG (new flickers 9, 15, 31 Hertz) , functional diagnostics |
| Virtual reality (VR) functional test | 3-5 years | VR functional test, functional diagnostics |
Countries
Germany
Contacts
PRINCIPAL_INVESTIGATORKatarina Stingl, Prof
Department for Opthalmology
Outcome results
None listed