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.
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Optical coherence tomography (OCT)
Timeframe: 3-5 years
Fundus autofluorescence imaging
Timeframe: 3-5 years
Wide-field fundus photography
Timeframe: 3-5 years
Adaptive optics imaging
Timeframe: 3-5 years
V1 morphology (MRI)
Timeframe: 3-5 years
Diffusion Tensor Imaging (DTI)
Timeframe: 3-5 years
flavoprotein fluorescence (FPF)
Timeframe: 3-5 years
Retinal oxymetry
Timeframe: 3-5 years
Local dark adapted adaptation curves
Timeframe: 3-5 years
best corrected visual acuity (BCVA)
Timeframe: 3-5 years
Static cone perimetry and dark adapted perimetry
Timeframe: 3-5 years
chromatic pupil campimetry (CPC)
Timeframe: 3-5 years
electroretinogram (ERG)
Timeframe: 3-5 years
Virtual reality (VR) functional test
Timeframe: 3-5 years