Ongoing Clinical Trials for Colour Blindness
There is currently 1 ongoing clinical trial exploring gene therapy for a specific form of colour blindness caused by genetic mutations in the CNGA3 gene. This trial is investigating whether delivering a healthy copy of the gene directly to the eye can help improve vision in both adults and children with this condition. (Also known as: Achromatopsia, Color Vision Deficiency)
Clinical trial locations
Study on the Safety and Effectiveness of rAAV.hCNGA3 for Adults and Minors with CNGA3-Linked Achromatopsia
This clinical trial is investigating a gene therapy treatment for people with CNGA3-linked achromatopsia, a genetic condition that causes complete colour blindness, reduced visual clarity, and sensitivity to light. The condition is caused by mutations in the CNGA3 gene, which affects the cone cells in the retina that are responsible for colour vision and detailed sight.
Main focus: The study aims to evaluate whether a treatment called rAAV.hCNGA3 is safe and effective when injected into both eyes of patients. This gene therapy uses a specially modified virus to deliver a healthy copy of the CNGA3 gene directly to the retina, with the goal of restoring normal function to the cone cells and improving vision.
Investigational drug: rAAV.hCNGA3 is administered as a single injection beneath the retina in both eyes. The treatment delivers the healthy CNGA3 gene using an adeno-associated viral vector, which acts as a carrier to transport the gene into retinal cells where it can begin working.
Who can participate: The trial is open to both children aged 6-12 years and adults aged 18 years or older. Participants must have a confirmed clinical diagnosis of achromatopsia with genetic testing showing mutations in both copies of the CNGA3 gene. Vision must be at least 20/400 or better when corrected, and there must be a minimum thickness of 10 micrometers in a specific layer of the retina. Female participants of childbearing age must have a negative pregnancy test and agree to use effective birth control for 6 months after treatment. Male participants must agree to use condoms during this same period. Participants must also be free from HIV infection and able to understand and agree to follow the study requirements.
Who cannot participate: People who do not have CNGA3-linked achromatopsia are excluded from this study, as are those outside the specified age ranges. Individuals considered part of vulnerable populations requiring special protection or care may also not be eligible.
How the study works: After an initial assessment confirms eligibility through clinical diagnosis and genetic testing, participants receive the treatment as a single injection beneath the retina in both eyes. Following treatment, regular monitoring visits are scheduled to track vision improvements and eye health. The primary focus is on measuring contrast sensitivity six months after treatment, with additional tests evaluating visual acuity and patient-reported experiences. The study will continue monitoring participants for several years, with an expected completion date of April 30, 2028, allowing researchers to gather comprehensive long-term safety and effectiveness data.
Summary
Currently, there is one active clinical trial for colour blindness, specifically targeting CNGA3-linked achromatopsia. This trial is being conducted in Germany and represents an innovative approach using gene therapy to address the genetic root cause of this form of complete colour blindness. The study is notable for including both pediatric patients as young as 6 years old and adults, recognizing that this genetic condition affects people across different age groups. The use of rAAV.hCNGA3 gene therapy marks an important development in exploring treatments for genetic vision disorders, moving beyond traditional management approaches to potentially restore function at the genetic level. The long-term follow-up planned through 2028 will provide valuable information about the durability and safety of this treatment approach.