Clinical and Genetic Characterization of Individuals With Achromatopsia

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.

Study Overview

• Status: Completed
• Conditions: Achromatopsia

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.

• Study Type: Observational
• Enrollment (Actual): 56

Contacts and Locations

Study Locations

• United States
  • Florida
    • Gainesville, Florida, United States, 32607
      • VitreoRetinal Associates
    • Miami, Florida, United States, 33136
      • Bascom Palmer Eye Institute
  • Illinois
    • Chicago, Illinois, United States, 60608
      • Pangere Center for Inherited Retinal Diseases, The Chicago Lighthouse for People Who Are Blind or Visually Imp
  • Oregon
    • Portland, Oregon, United States, 97239
      • Casey Eye Institute, Oregon Health & Science University
  • Wisconsin
    • Milwaukee, Wisconsin, United States, 53226
      • Medical College of Wisconsin

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 6 years and older (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Individuals with a clinical diagnosis of achromatopsia

Description

Inclusion Criteria:

1. Clinical diagnosis of achromatopsia (screening portion of study);
2. Molecular confirmation of mutations in the CNGB3 gene (main portion of study);
3. At least 6 years of age;
4. Willing and able to perform study procedures;
5. Signed informed consent(s) obtained (and child assent where applicable).

Exclusion Criteria:

1. Not able to have a blood sample drawn;
2. Pre-existing eye conditions that would interfere with interpretation of study endpoints (e.g. glaucoma, corneal or lenticular opacities, diabetic retinopathy, history of retinal detachment);
3. Participating in an interventional research study of drugs or devices for treatment of achromatopsia or other retinal diseases;
4. Use of medications that may impair color vision (e.g. hydroxychloroquine);
5. Any condition which leads the investigator to believe that the participant cannot comply with the protocol requirements or that may place the participant at an unacceptable risk for participation.

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Visual acuity	Visual acuity will be measured by EVA or ETDRS methods	Annually for up to 1.5 years

Secondary Outcome Measures

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

Collaborators and Investigators

• Sponsor: Applied Genetic Technologies Corp
• Collaborators: National Eye Institute (NEI)
• Investigators: Study Director: Matt Feinsod, MD, Applied Genetics Technologies Corporation

Publications and helpful links

General Publications

• Langlo CS, Patterson EJ, Higgins BP, Summerfelt P, Razeen MM, Erker LR, Parker M, Collison FT, Fishman GA, Kay CN, Zhang J, Weleber RG, Yang P, Wilson DJ, Pennesi ME, Lam BL, Chiang J, Chulay JD, Dubra A, Hauswirth WW, Carroll J; ACHM-001 Study Group. Residual Foveal Cone Structure in CNGB3-Associated Achromatopsia. Invest Ophthalmol Vis Sci. 2016 Aug 1;57(10):3984-95. doi: 10.1167/iovs.16-19313.

Study record dates

Study Major Dates

• Study Start: June 1, 2013
• Primary Completion (Actual): April 1, 2017
• Study Completion (Actual): April 1, 2017

Study Registration Dates

• First Submitted: May 1, 2013
• First Submitted That Met QC Criteria: May 1, 2013
• First Posted (Estimate): May 3, 2013

Study Record Updates

• Last Update Posted (Actual): October 13, 2017
• Last Update Submitted That Met QC Criteria: October 11, 2017
• Last Verified: October 1, 2017

More Information

Terms related to this study

• Keywords: achromatopsia, CNGB3
• Additional Relevant MeSH Terms: Nervous System Diseases; Eye Diseases; Neurologic Manifestations; Eye Diseases, Hereditary; Sensation Disorders; Vision Disorders; Cone Dystrophy; Color Vision Defects
• Other Study ID Numbers: ACHM-001; 1R24EY022023 (U.S. NIH Grant/Contract)