Genetic health conditions are usually the most difficult or impossible to treat. This is exactly why a recent research article about a novel treatment capable of reversing a genetic eye disease called Leber Congenital Amaurosis (LCA) is such a major medical advance. LCA appears at birth or in the first few months of life and causes severe vision loss and blindness.
A novel treatment developed by the University of Pennsylvania and Children’s Hospital of Philadelphia is capable of reversing blindness caused by LCA with a single eye injection. Learn more about this exceptional treatment and how it could open the door to genetic treatments for an array of other inherited health conditions below.
What is Leber congenital amaurosis (LCA)?
LCA is a genetic eye disease that affects about 1 in 40,000 newborns. The condition is associated with multiple genetic mutations that target the retina and cause severe vision loss or blindness and nystagmus, a condition when the eyes make repetitive, uncontrolled movements.
Depending on the severity of the condition, the pupils of patients with LCA may also be less responsive to the light or nonresponsive altogether. The condition accounts for 20% of blindness in school-age children and nearly all patients suffering from this condition become completely blind by age 30-40. LCA is considered an incurable disease.
A new genetic treatment is capable of reversing LCA
Researchers at the University of Pennsylvania and Children’s Hospital of Philadelphia developed a genetic treatment for LCA in the early 2000s. The novel treatment is a gene replacement therapy in the form of an eye injection that targets the mutated RNA and promotes healthy protein expression in the retina. It’s called Antisense oligonucleotide therapy (AOT), and it essentially restores vision either partially or completely.
In a 2017 study, the researchers administered the AOT treatment to 10 patients every 3 months, which ended up improving their eyesight in the daytime by promoting the creation of the right proteins in their retinas. What this older study didn’t tell you but a recently published follow-up case study did, is that one of the patients, the 11th one, ended up refusing to continue participating in the study after receiving only one injection.
The patient had zero night vision and low vision overall. Just a month after the first shot, the patient started to show outstanding improvements in vision. The patient’s vision continued to improve rapidly in the next 15 months and approximated that of the patients who got multiple injections. The delayed response was something the researchers have predicted, but the massive improvement of patient 11 has exceeded all expectations.
Hopefully, the treatment will soon be approved completely and become available for all patients suffering from vision loss or blindness due to LCA. Notably, similar genetic treatments have already been approved by the FDA to treat neurological medical conditions, and ongoing trials are being conducted to explore AOT therapies to treat Alzheimer’s disease, Parkinson’s disease, and Huntington's disease. Certainly, we will follow the future of these promising genetic therapies with great interest.
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