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

NCT06323772 | Active Not Recruiting

• 1 other identifier: RDC-RP-01
• Study Type: observational
• Target: 40
• Locations: 1 country
• Sites: 1

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.

Conditions

Retinitis Pigmentosa

Keywords

Retinal Diseases; Eye Diseases; Eye Diseases, Hereditary; Retinal Dystrophies; Retinal Degeneration; Genetic Diseases, Inborn; Retinitis Pigmentosa; PDE6A, PDE6B, RHO; gene therapy trial

Outcome Measures

Primary Outcomes (14)

• Optical coherence tomography (OCT)

  OCT volume scans of the macular region, morphological examination

  3-5 years

• Fundus autofluorescence imaging

  Fundus autofluorescence imaging, morphological examination

  3-5 years

• Wide-field fundus photography

  Wide-field fundus photography, morphological examination

  3-5 years

• Adaptive optics imaging

  Adaptive optics imaging, morphological examination

  3-5 years

• V1 morphology (MRI)

  MRI, morphological examination

  3-5 years

• Diffusion Tensor Imaging (DTI)

  DTI of the optical pathway , morphological examination

  3-5 years

• flavoprotein fluorescence (FPF)

  FPF, metabolic readout

  3-5 years

• Retinal oxymetry

  Retinal oxymetry, metabolic readout , Local dark adapted adaptation curves

  3-5 years

• Local dark adapted adaptation curves

  Local dark adapted adaptation curves , metabolic readout ,

  3-5 years

• best corrected visual acuity (BCVA)

  BCVA, functional diagnostics

  3-5 years

• Static cone perimetry and dark adapted perimetry

  Static cone perimetry and dark adapted perimetry , functional diagnostics

  3-5 years

• chromatic pupil campimetry (CPC)

  scotopic and photopic CPC , functional diagnostics

  3-5 years

• electroretinogram (ERG)

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

  3-5 years

• Virtual reality (VR) functional test

  VR functional test, functional diagnostics

  3-5 years

Study Arms (3)

PDE6A patients

15 patients with mutation in PDE6A

PDE6B patients

15 patients with mutation in PDE6B

RHO patients

10 patients with mutation in RHO

Eligibility Criteria

• Age: 5 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

40 patients with PDE6A, PDE6B, and RHO-based retinitis pigmentosa

You may qualify if:

• 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

You may not qualify if:

• severe general disease, that would make longer examinations not possible

Sponsors & Collaborators

• University Hospital Tuebingen: lead

Study Sites (1)

Institute for Ophthalmic Research, University Tübingen

Tübingen, Baden-Wurttemberg, 72076, Germany

Location

MeSH Terms

Conditions

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

Condition Hierarchy (Ancestors)

Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Katarina Stingl, Prof

  Department for Opthalmology

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 7, 2024
• First Posted: March 21, 2024
• Study Start: November 17, 2023
• Primary Completion (Estimated): March 1, 2027
• Study Completion (Estimated): March 1, 2027
• Last Updated: May 6, 2026

Record last verified: 2026-04

Data Sharing

• IPD Sharing: Will not share

Locations

DE (1)