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A clinical trial is a type of research done with people that evaluates new tests or treatments before they are approved for use, to make sure they are safe and effective for the people who will be treated with them. All new, experimental treatments and therapies must go through this trial research before they can be prescribed by your doctor or sold in a pharmacy to the general public.

Clinical trials are carefully designed, reviewed, and carried out. The person in charge of the trial is called the principal investigator. He or she is a scientist who is an expert in clinical trial development.
Before a clinical trial can start, it is discussed with and reviewed by the Food and Drug Administration (FDA), followed by an approval by an Institutional Review Board. (An IRB is a group of people that reviews the research plan to make sure the rights and welfare of patients are protected.)

All new tests and treatments must go through four phases of clinical trial research:

  • Phase 1 trials test a treatment in a small group of people to make sure it is safe
  • Phase 2 trials are also done with a small group of people. These trials look at “efficacy,” or potential benefit to assess how likely the treatment is to work.
  • Phase 3 trials study the treatment in a larger group of people to confirm the effectiveness of the treatment and to continue watching for any harmful side effects
  • Phase 4 studies happen after a treatment is approved, with information collected over time from people receiving the treatment in order to detect any long-term side effects or outcomes.
  • Every clinical trial may have specific benefits, depending on the treatment being studied, but there are also general benefits to participating. You will be treated by experts in achromatopsia, and you will be carefully monitored during the trial. You may get access to a new, experimental treatment, or test that would not otherwise be available to the general public. Also, by participating in a trial, you will contribute to what is known about your condition which may help other people in future generations, including family members who may deal with the same genetic condition.

    As with any test or treatment, there may be side effects. Also, new tests or treatments may not work as well as or better than the one now in use (if there are any treatments). For achromatopsia, there are no FDA-approved treatments available for this condition. Participating in any clinical trial may disqualify you from participating in other clinical trials but you may still be eligible to receive future therapies outside of a clinical trial. You will be able to talk about all of the risks of a trial with the medical team before enrolling to help you decide whether the trial is right for you.


    Gene therapy is the process of giving a person with a genetic disorder a working copy of the malfunctioning, or “mutated” gene that causes their condition. The new gene is delivered into a person’s cells using specially prepared, common viruses that have been modified so they no longer are able to cause a viral infection in your body. Once the new, working gene is delivered by the virus, a patient’s own body uses it to repair or replace the mutated gene. A single gene therapy treatment may provide long-lasting benefits that may lead to a better quality of life.

    Gene mutations can be identified with a simple blood or saliva test. Talk to your doctor about getting tested. Many insurance companies will cover the cost of the test. In addition, the Foundation Fighting Blindness offers free genetic testing for many inherited retinal disorders, including achromatopsia. To find out more about their testing, go to www.myretinatracker.org

    Before you enroll in the Clarity Clinical Trial, AGTC will cover the cost of genetic testing to confirm your eligibility. If you are interested in learning more about whether you are eligible for one of AGTC’s achromatopsia trials, click here.


    The AGTC Clarity Clinical Trials for achromatopsia are studying the use of a gene therapy to replace or repair the genes that are most commonly mutated in achromatopsia, CNGB3 and CNGA3. These trials are still in the early stages, so they are mostly looking at whether the treatment is safe, and whether or not it has any effect on a person’s condition.

    These trials are open to anyone over six years old, who has been diagnosed with achromatopsia, and who doesn’t have any other conditions that may make it hard or risky for them to undergo the treatment. There are other, more specific eligibility criteria for each trial that are best discussed with a doctor who is working on the study.

    The treatment is given through a one-time injection into the back of the retina of one eye only. The injection is given in a hospital by a specially trained retinal surgeon and requires you to remain at the trial site for a few days to watch for any side effects from the treatment.

    People enrolled in the clinical trial must commit to going to the trial site approximately 12 times during the first year of the trial to check on the short-term impact of the treatment, and then once a year over the next four years to see what happens over time. The sponsor, AGTC, covers the cost of travel and lodging for you and a companion.

    There are a number of different health care centers where investigators are working on these studies. AGTC is always working to add more trial sites, so if you don’t see a site listed near you, contact us to find out if we have added any that are closer. All of the study visits must be at a trial site, so travel will be required; however, AGTC will cover the cost of any travel and lodging for you and a companion.

    Yes. AGTC will arrange travel and cover the costs, as well as medical and genetic testing costs that are associated with participating in the trial.

    Absolutely. We recognize that people with visual impairments may not be comfortable travelling alone, so we will cover travel and lodging expenses for your travel companion as well.

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