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Clinical and Genetic Characterization of Individuals With Achromatopsia

This study is ongoing, but not recruiting participants.
National Eye Institute (NEI)
Information provided by (Responsible Party):
Applied Genetic Technologies Corp Identifier:
First received: May 1, 2013
Last updated: March 10, 2017
Last verified: March 2017
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 Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: Clinical and Genetic Characterization of Individuals With Achromatopsia

Resource links provided by NLM:

Further study details as provided by Applied Genetic Technologies Corp:

Primary Outcome Measures:
  • Visual acuity [ Time Frame: Annually for up to 1.5 years ]
    Visual acuity will be measured by EVA or ETDRS methods

Secondary Outcome Measures:
  • 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).

Biospecimen Retention:   Samples With DNA
DNA samples will be stored at the DNA testing laboratory for additional testing for mutations in other genes that may be causally related to achromatopsia.

Estimated Enrollment: 150
Study Start Date: June 2013
Estimated Study Completion Date: July 2017
Estimated Primary Completion Date: July 2017 (Final data collection date for primary outcome measure)
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.

Ages Eligible for Study:   6 Years and older   (Child, Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Individuals with a clinical diagnosis of achromatopsia

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.
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01846052

United States, Florida
VitreoRetinal Associates
Gainesville, Florida, United States, 32607
Bascom Palmer Eye Institute
Miami, Florida, United States, 33136
United States, Illinois
Pangere Center for Inherited Retinal Diseases, The Chicago Lighthouse for People Who Are Blind or Visually Imp
Chicago, Illinois, United States, 60608
United States, Oregon
Casey Eye Institute, Oregon Health & Science University
Portland, Oregon, United States, 97239
United States, Wisconsin
Medical College of Wisconsin
Milwaukee, Wisconsin, United States, 53226
Sponsors and Collaborators
Applied Genetic Technologies Corp
National Eye Institute (NEI)
Study Director: Mike Goldstein, MD Applied Genetics Technologies Corporation
  More Information

Publications automatically indexed to this study by Identifier (NCT Number):
Responsible Party: Applied Genetic Technologies Corp Identifier: NCT01846052     History of Changes
Other Study ID Numbers: ACHM-001
1R24EY022023 ( US NIH Grant/Contract Award Number )
Study First Received: May 1, 2013
Last Updated: March 10, 2017

Keywords provided by Applied Genetic Technologies Corp:
achromatopsia, CNGB3

Additional relevant MeSH terms:
Color Vision Defects
Vision Disorders
Sensation Disorders
Neurologic Manifestations
Nervous System Diseases
Eye Diseases
Signs and Symptoms processed this record on April 27, 2017