Natural History Study in Patients With PDE6A-, PDE6B- and RHO-linked Retinitis Pigmentosa

Condition(s) studied

Study 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.

Eligibility

Primary outcome measure(s)

• 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

Trial sites (1)

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