Clinical Trial: Clinical and Genetic Characterization of Individuals With Achromatopsia

Study Status: Active, not recruiting
Recruit Status: Active, not recruiting
Study Type: Observational

Official Title: Clinical and Genetic Characterization of Individuals With Achromatopsia

Brief Summary: The purpose of this study is to identify individuals with achromatopsia caused by mutations in the CNGB3 gene and characterize their clinical condition using several tests of visual function every 6 months for up to 1.5 years.

Detailed Summary: Individuals with a clinical diagnosis of achromatopsia will be asked to provide informed consent and will then have a single 5 mL blood sample drawn for DNA sequence analysis of genes known to cause achromatopsia, including the CNGB3 gene. All participants will be informed of the results of testing for these mutations. Those with mutations in both alleles of the CNGB3 gene will be evaluated every 6 months for up to 1.5 years by using a variety of non-invasive visual function tests to more fully characterize their clinical condition. This testing will include routine ophthalmic examination and tests of visual acuity, color vision, reading speed, perimetry, nystagmus, light sensitivity, optical coherence tomography, adaptive optics retinal imaging, electroretinography, fundus photography and completion of a quality of life questionnaire.
Sponsor: Applied Genetic Technologies Corp

Current Primary Outcome: Visual acuity [ Time Frame: Annually for up to 1.5 years ]

Visual acuity will be measured by EVA or ETDRS methods


Original Primary Outcome: Visual acuity [ Time Frame: Annually for up to 3 years ]

Visual acuity will be measured by EVA or ETDRS methods


Current Secondary Outcome:

  • Color Vision [ Time Frame: annually for up to 1.5 years ]
    Color vision will be measured by Farnsworth D-15 test and anomaloscope
  • Adaptive Optics Retinal Imaging [ Time Frame: annually for up to 1.5 years ]
    Adaptive optics retinal imaging will be performed using the method of Genead et al. (Invest Ophthalmol Vis Sci 2011;52:7298-308).


Original Secondary Outcome:

  • Color Vision [ Time Frame: annually for up to 3 years ]
    Color vision will be measured by Farnsworth D-15 test and anomaloscope
  • Adaptive Optics Retinal Imaging [ Time Frame: annually for up to 3 years ]
    Adaptive optics retinal imaging will be performed using the method of Genead et al. (Invest Ophthalmol Vis Sci 2011;52:7298-308).


Information By: Applied Genetic Technologies Corp

Dates:
Date Received: May 1, 2013
Date Started: June 2013
Date Completion: July 2017
Last Updated: March 10, 2017
Last Verified: March 2017