Achromatopsia Clinical Trials 2023

What Are Achromatopsia Clinical Trials?

Achromatopsia is a rare genetic disease that results in a partial or total loss of color vision. Those diagnosed with achromatopsia may have varying levels of vision loss, ranging from only seeing black and white, complete color loss, or only seeing gray.

Other vision problems, including light sensitivity, involuntary eye movements, and far or nearsightedness, may accompany this condition.

Clinical trials for achromatopsia mainly focus on different gene therapies to improve vision loss and retinal function in those diagnosed with achromatopsia.

Why Is Achromatopsia Being Studied Through Clinical Trials?

It is estimated that achromatopsia affects 1 in 30,000 people worldwide, and complete achromatopsia is more prevalent than incomplete achromatopsia. Currently, there is no cure for achromatopsia, and clinical trials are looking at gene therapy for CNGA3 and CNGB3-related achromatopsia.

Several genes can cause achromatopsia; these include CNGA3, CNGB3, GNAT2, PDE6H and PDE6C. The only hope for a treatment to improve this condition is gene therapy, which is currently being studied extensively through various clinical trials.

What Are The Types Of Treatments Available For Achromatopsia?

Achromatopsia is untreatable, but if patients experience sensitivity to light, they can use red-colored lenses. Patients may also use dark-tinted glasses may also be used to filter out specific types of light.

A current clinical trial for achromatopsia is the study of CNGB3 gene therapy to be administered through surgical injection in the eye. This clinical trial aims to determine the efficacy and safety of this treatment for achromatopsia.

Researchers are continually working on developing new genetic treatments for achromatopsia. In animals, gene therapy has shown positive results in restoring cone function. Unfortunately, funding is often limited for clinical trials on achromatopsia, but gene therapy for other eye conditions may be beneficial in treating achromatopsia patients as well.

What Are Some Recent Breakthrough Clinical Trials For Achromatopsia?

Most clinical trials on achromatopsia have focused on new therapies to improve vision loss. Some of the most notable include:

2023: Gene therapy trials for color vision deficiency caused by achromatopsia. A gene therapy clinical trial was conducted to test the effectiveness in restoring the function of the CNGA3 or CNGB3. This therapy was given to children aged between 10-15 years.

2023: CNGA3 gene therapy for achromatopsia. Researchers at the Ludwig University of Munich and the University Hospital Tubingen have developed a genetically engineered virus designed to be administered to patients to correct the defect in the gene CNGA. This gene is one of the genes responsible for achromatopsia.

Who Are Some Of The Key Opinion Leaders / Researchers Conducting Achromatopsia Clinical Trial Research?

Richard L. Windsor practices optometry at the low vision center in Indiana and is certified in treating and managing ocular disease. Windsor has also been a clinical researcher developing new ways to help patients with eye conditions. He has also done lots of work fitting filtered contact lenses to control the glare in achromatopsia patients.

Henry A. Ferreyra, M.D. is a clinical professor of ophthalmology, and his interests are in the fields of inherited retina disorders, age-related macular degeneration, and diabetic retinopathy. Ferreyra has published many articles and is an active researcher in a few eye-related clinical trials.