Status:
COMPLETED
Clinical and Genetic Characterization of Individuals With Achromatopsia
Lead Sponsor:
Beacon Therapeutics
Collaborating Sponsors:
National Eye Institute (NEI)
Conditions:
Achromatopsia
Eligibility:
All Genders
6+ years
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 m...
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 a...
Eligibility Criteria
Inclusion
- Clinical diagnosis of achromatopsia (screening portion of study);
- Molecular confirmation of mutations in the CNGB3 gene (main portion of study);
- At least 6 years of age;
- Willing and able to perform study procedures;
- Signed informed consent(s) obtained (and child assent where applicable).
Exclusion
- Not able to have a blood sample drawn;
- 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);
- Participating in an interventional research study of drugs or devices for treatment of achromatopsia or other retinal diseases;
- Use of medications that may impair color vision (e.g. hydroxychloroquine);
- 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.
Key Trial Info
Start Date :
June 1 2013
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
April 1 2017
Estimated Enrollment :
56 Patients enrolled
Trial Details
Trial ID
NCT01846052
Start Date
June 1 2013
End Date
April 1 2017
Last Update
October 13 2017
Active Locations (5)
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1
VitreoRetinal Associates
Gainesville, Florida, United States, 32607
2
Bascom Palmer Eye Institute
Miami, Florida, United States, 33136
3
Pangere Center for Inherited Retinal Diseases, The Chicago Lighthouse for People Who Are Blind or Visually Imp
Chicago, Illinois, United States, 60608
4
Casey Eye Institute, Oregon Health & Science University
Portland, Oregon, United States, 97239