Clinical and Genetic Characterization of Individuals With Achromatopsia (NCT01846052) | Clinical Trial Compass
CompletedNot Applicable
Clinical and Genetic Characterization of Individuals With Achromatopsia
United States56 participantsStarted 2013-06
Plain-language 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.
Who can participate
Age range
6 Years
Sex
ALL
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
Inclusion criteria
. 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 criteria
. 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.
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1Since this trial has already been completed and was measuring visual acuity in people with achromatopsia, would it be worth asking the researchers or my doctor if the results have been published, and what those findings might mean for my specific situation?
2This study focused on clinical and genetic characterization — does that mean it was mainly about collecting information rather than testing a treatment, and if so, how might the genetic data gathered from participants like me help guide future treatment options?
3Since achromatopsia can be caused by mutations in different genes, would my doctor recommend I get genetic testing to identify which gene is responsible for my condition, and could that information open doors to gene-therapy trials that are currently recruiting?
4Given that this trial is completed and was not a treatment study, is there a currently active clinical trial testing an actual therapy for achromatopsia that my doctor thinks I should look into based on my genetic profile and current level of visual acuity?
5Would participating in or reviewing data from a characterization study like this one affect how my doctor monitors my vision over time, or change any decisions about managing my achromatopsia right now?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.