NCT01846052

Clinical and Genetic Characterization of Individuals With Achromatopsia

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 56 (actual)
• Sponsor: Beacon Therapeutics · Industry
• Sex: All
• Age: 6 Years
• Healthy volunteers: Not accepted

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 description

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.

Conditions

• Achromatopsia

Timeline

• Start date: 2013-06-01
• Primary completion: 2017-04-01
• Completion: 2017-04-01
• First posted: 2013-05-03
• Last updated: 2017-10-13

Locations

5 sites across 1 country: United States