Clinical and Genetic Characterization of Individuals With Achromatopsia
Completed
Conditions studied: Achromatopsia
In brief
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.
Key facts
- Study ID
- NCT01846052
- Run by
- Beacon Therapeutics
- People needed
- 56
- Starts
- 2013-06-01
- Expected to finish
- 2017-04-01
- Last updated by the study team
- 2017-10-13
Who can join
Age: 6 and older. Sex: any. Healthy volunteers: not accepted.
You may qualify if…
- 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).
You may not qualify if…
- 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.
Where it is running
- VitreoRetinal Associates — Gainesville, Florida, United States
- Bascom Palmer Eye Institute — Miami, Florida, United States
- Pangere Center for Inherited Retinal Diseases, The Chicago Lighthouse for People Who Are Blind or Visually Imp — Chicago, Illinois, United States
- Casey Eye Institute, Oregon Health & Science University — Portland, Oregon, United States
- Medical College of Wisconsin — Milwaukee, Wisconsin, United States
Full record on ClinicalTrials.gov
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