CNGB1 and Allied Disorders

Overview

Mutations in the rod-expressed gene, cyclic nucleotide-gated channel beta subunit (CNGB1) and associated inborn errors in metabolism are causes of retinal disease that causes progressive loss of vision. Retinitis pigmentosa (RP) is a major cause of untreatable blindness associated with CNGB1 (CNGB1-RP). RP involves the death of photoreceptor cells that can be caused by mutations in a number of different genes. Treatment by gene therapy could prevent blindness in cases of inherited retinal dystrophies including RP. In the future RP due to mutations in CNGB1 may be treatable by gene therapy since this form of photoreceptor degeneration involves a slow loss of rod photoreceptor cells. This provides a wide window of opportunity for the identification of patients and initiation of treatment. Our efforts are directed toward developing gene therapy as a treatment. To this end, our objective is to better understand the disease process of CNGB1-RP and other allied inherited disorders so that we can develop clinical tests to measure the outcomes of treatment.

Full Title of Study: “Study of CNGB1 Retinitis Pigmentosa and Allied Hereditary Disorders”

Study Type

  • Study Type: Observational
  • Study Design
    • Time Perspective: Prospective
  • Study Primary Completion Date: March 2023

Interventions

  • Other: No intervention, this is a natural history progression study
    • The objective is to better understand the disease process of CNGB1-RP so that we can develop clinical tests to measure the outcomes of treatment.

Clinical Trial Outcome Measures

Primary Measures

  • We will be looking to identify what the best outcome measurements will be for CNGB1-RP in order to use these measurements in a future clinical trial.
    • Time Frame: 2 days, 1 time per year, for 3 years
    • Both structural imaging and functional tests will be used to characterize the natural history progression of CNGB1-RP.
  • Medmont Dark Adapted Chromatic (DAC) Automated Perimeter
    • Time Frame: 1 time per year, for 3 years
  • Full-field ERG (ISCEV Protocol)
    • Time Frame: 1 time per year, for 3 years
  • Optical Coherence Tomography (OCT)
    • Time Frame: 1 time per year, for 3 years
  • Fundus Autofluorescence (FAF)
    • Time Frame: 1 time per year, for 3 years
  • Near-infrared fundus autofluorescence (NIR-AF)
    • Time Frame: 1 time per year, for 3 years
  • Quantitative Fundus Autofluorescence (qAF)
    • Time Frame: 1 time per year, for 3 years

Secondary Measures

  • Best-corrected Visual Acuity (BCVA)
    • Time Frame: 1 time per year, for 3 years
  • Complete Ophthalmic Exam
    • Time Frame: 2 time per year, for 3 years
  • Color Fundus Photos
    • Time Frame: 1 time per year, for 3 years
  • MAIA Microperimetry
    • Time Frame: 1 time per year, for 3 years
    • if available
  • NIDEK Microperimetry
    • Time Frame: 1 time per year, for 3 years
    • if available
  • Goldman Kinetic Visual Field
    • Time Frame: 1 time per year, for 3 years
  • Light-adapted Static Perimetry
    • Time Frame: 1 time per year, for 3 years
  • Panel D-15 Colour Vision (desat.)
    • Time Frame: 1 time per year, for 3 years
  • Dark-adapted Chromatic Perimetry
    • Time Frame: 1 time per year, for 3 years
  • Full-field Stimulus Testing (FST)
    • Time Frame: 1 time per year, for 3 years
    • Optional

Participating in This Clinical Trial

Inclusion Criteria

  • Diagnosis of CNGB1-associated RP by study physician, who are trained retinal specialists in the university clinic – Must be able to commit to 4 follow-up study visits (3 years)
  • Gender Eligibility: All

    Minimum Age: N/A

    Maximum Age: N/A

    Are Healthy Volunteers Accepted: No

    Investigator Details

    • Lead Sponsor
      • Columbia University
    • Collaborator
      • Michigan State University
    • Provider of Information About this Clinical Study
      • Principal Investigator: Stephen H. Tsang, Professor of Ophthalmology – Columbia University

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