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NCT Number: NCT06323772

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

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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Key information

Conditions

Retinitis Pigmentosa Congenital, Hereditary, and Neonatal Diseases and Abnormalities Eye Diseases Eye Diseases, Hereditary Genetic Diseases, Inborn Night Blindness, Congenital Stationary, Autosomal Dominant 1 Night Blindness, Congenital Stationary, Autosomal Dominant 2 Retinal Degeneration Retinal Diseases Retinal Dystrophies

Age range

5 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Institute for Ophthalmic Research, University Tübingen

Tübingen, Baden-Wurttemberg, 72076, Germany

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

  1. Optical coherence tomography (OCT)

    Time frame: 3-5 years

    OCT volume scans of the macular region, morphological examination

  2. Fundus autofluorescence imaging

    Time frame: 3-5 years

    Fundus autofluorescence imaging, morphological examination

  3. Wide-field fundus photography

    Time frame: 3-5 years

    Wide-field fundus photography, morphological examination

  4. Adaptive optics imaging

    Time frame: 3-5 years

    Adaptive optics imaging, morphological examination

  5. V1 morphology (MRI)

    Time frame: 3-5 years

    MRI, morphological examination

  6. Diffusion Tensor Imaging (DTI)

    Time frame: 3-5 years

    DTI of the optical pathway , morphological examination

  7. flavoprotein fluorescence (FPF)

    Time frame: 3-5 years

    FPF, metabolic readout

  8. Retinal oxymetry

    Time frame: 3-5 years

    Retinal oxymetry, metabolic readout , Local dark adapted adaptation curves

  9. Local dark adapted adaptation curves

    Time frame: 3-5 years

    Local dark adapted adaptation curves , metabolic readout ,

  10. best corrected visual acuity (BCVA)

    Time frame: 3-5 years

    BCVA, functional diagnostics

  11. Static cone perimetry and dark adapted perimetry

    Time frame: 3-5 years

    Static cone perimetry and dark adapted perimetry , functional diagnostics

  12. chromatic pupil campimetry (CPC)

    Time frame: 3-5 years

    scotopic and photopic CPC , functional diagnostics

  13. electroretinogram (ERG)

    Time frame: 3-5 years

    Functional ERG (new flickers 9, 15, 31 Hertz) , functional diagnostics

  14. Virtual reality (VR) functional test

    Time frame: 3-5 years

    VR functional test, functional diagnostics

Sponsors and collaborators

Lead sponsor

University Hospital Tuebingen

Other

Registry information

Official study 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

Important dates

Study start
2023
Primary completion
2027
Study completion
2027
First posted
Mar 21, 2024
Registry last updated
May 6, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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