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.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

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.

What they're measuring

Visual acuity

Timeframe: Annually for up to 1.5 years

Trial details

NCT IDNCT01846052

SponsorBeacon Therapeutics

Sponsor typeINDUSTRY

Study typeOBSERVATIONAL

Primary completion2017-04

View on ClinicalTrials.gov More Achromatopsia trials