The FDA, US Food and Drug Administration, unanimously agreed upon the recommendation for a new gene therapy that treats a rare form of blindness, reported ScienceNordic. Spark Therapeutics, a biotech company based in the U.S. developed Luxturna, the treatment for LCA, Leber congenital amaurosis, a rare eye disease. While it’s diagnosis comes very far and wide, it is often present in children and this new treatment could be exactly what is needed to help them see again.
LCA is an inherited disease of the eye that malfunctions the retinal pigment epithelium, which are the cells in the eye. These cells duties are to keep the light sensitive tissue, the retina, healthy and protected. A patient with LCA will often experience night blindness, narrow tunnel vision, and roving eyes. Patients usually are diagnosed at a young age and often lose their vision completely before they reach adulthood. Since it’s an inherited genetic disease, gene therapy has been tested for some time and now Spark hopefully found what they’ve been searching for.
There are many different forms of LCA, and they all are caused by a mutated gene. Luxturna is a one-time treatment that is able to inject healthy RPE65 genes directly into the retina. These new healthy genes protect the retina and produce the lacking protein necessary for the revival of one’s vision. Clinical trials experienced improvements in patients within the first month. In the second phase of trials, patients were told to navigate themselves through obstacles, and a stunning 93% had significant improvements. Luckily, no side effects were reported, just positive results. The only downside is the projected $1 million cost of the procedure.
Now we have to wait to see if the therapy will receive approval in the next stages, and if they do, this will be a huge feat for gene therapy in general. Many hope this will open the door to more gene therapy development for other rare eye diseases, and even then, continue to branch out to other genetic diseases as well.
