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Being completely color blind can lead to significant restrictions for those affected: in addition to the inability to perceive colors, patients also suffer from reduced visual acuity. So far, however, there is no cure for inherited disease. Researchers at the Ludwig Maximilians University in Munich have developed a method based on genetic engineering that could change this in the future. In a first study in patients, the method was found to be safe and effective in principle.
Achromatopsia: affected people cannot see any color
Complete color blindness means that those affected cannot distinguish the colors of the birth and suffer from very low visual acuity and high sensitivity to glare. This is due to a defect in the cone receptors on the retina of the eye. These are responsible for seeing in daylight and for color perception. Complete color blindness is also called achromatopsia and affects around 3,000 people in Germany. There is no causal treatment for the disease.
About a third of all achromatopsia diseases are due to a defect in the CNGA3 gene. A team of the Ophthalmology Research Institute of the University Hospital of Tübingen and the Department of Pharmacy and Ophthalmology of the Munich LMU have developed a gene therapy treatment in which the healthy version of the CNGA3 gene is introduced into the patient’s retina using a harmless virus. A few weeks later, the cells of the retina can form intact proteins that are supposed to restore the function of damaged cones. So-called adeno-associated viruses are used as gene shuttles, which were developed at LMU by Professor Stylianos Michalakis and Professor Martin Biel.
The first clinical trial was successful
In a first clinical study at the University of Tübingen Eye Clinic, the poorest eye of nine achromatopsia patients aged 24-59 was treated with the gene therapy agent as part of an operation. There were no drug-related health problems and the patient’s retina showed no permanent changes, explains Professor Dominik Fischer, who led the study. This is the main concern of the study: the treatment can be considered safe. But there was also good news in terms of effectiveness: the visual function of the patients had improved somewhat, both in terms of sharpness and contrast and color vision.
“ The study being conducted now is an important first step and a milestone towards curative therapy for achromatopsia, and we look forward to even better treatment successes in the future.“Says Professor Bernd Wissinger of the Tübingen Ophthalmology Research Institute.
Early treatment is important
Since the treated patients were all in adulthood, they already had retinal damage due to the disease. In the future, the goal should be to treat those affected as soon as possible. At a young age, the brain can better relearn color vision. Additionally, young patients are less likely to be affected by a previously damaged retina.
According to the researchers involved, the new gene therapy should already be carried out in childhood in analogy with the recently approved gene therapy drug Luxturna. In this way, the best possible effect can be achieved. Since the genetic vectors used have proven to be safe, a follow-up study in pediatric patients with CNGA3 is possible and useful.“Says Stylianos Michalakis from the Department of Ophthalmology at LMU.
via LMU Munich
