A six-year-old girl from Ethiopia who was born with normal vision but gradually lost it due to a rare genetic disease has regained her sight after receiving groundbreaking gene therapy in Israel.
The girl, named Galila Yohannes, suffers from retinitis pigmentosa, a group of inherited eye disorders that affect the retina, the light-sensitive tissue at the back of the eye. Retinitis pigmentosa causes progressive vision loss, starting with night blindness and peripheral vision loss, and eventually leading to complete blindness. The disease has no cure, but gene therapy and other treatments can slow down or prevent vision loss.
Galila received the gene therapy at Tel Aviv Sourasky Medical Center, also known as Ichilov Hospital, as part of a clinical trial that was approved by the Ministry of Health. The therapy involved injecting a modified virus that carries a healthy copy of the gene mutated in her condition into her eyes. The virus delivers the gene to the retina cells, where it replaces the faulty gene and restores their function.
Dr. Shulamit Schwartz, Director of the Advanced Technologies Unit in Retinal Surgery, and Prof. Dina Tzur, Director of the Center for Degenerative Retina Diseases in the Ophthalmology Department at Ichilov, explain: “Hereditary retinal degeneration is caused by genetic mutations that prevent the production of a protein required for vision. In the case of scrolling, this is a disease known as “retinitis pigmentosa” that causes disturbance in the visual field, night vision and later also visual acuity up to blindness. In recent years, the first gene therapy has been developed for an extremely rare disease caused by a mutation in the gene “65RPE”. The treatment was registered at the Ministry of Health for this indication and entered the basket of drugs after it was already approved earlier in the US and Europe, and indeed, Galila was diagnosed with the same mutation in the same rare gene.”
The therapy is the first of its kind for Galila’s mutation, which affects about one in 50,000 people worldwide. The trial involved 12 patients with different mutations of retinitis pigmentosa, who received different doses of the gene therapy. The results showed that the therapy was safe and effective, improving visual acuity and field in most patients.
Prof. Hagit Baris Feldman, director of the hospital’s genetics institute, and Dr. Dafna Marom, deputy director of the institute and coordinator of the field of pediatric genetics, explained: “Genetic tests are available for patients with hereditary retinal degeneration; they are vital for identifying the defective gene that causes the disease. Finding the gene can lead to treatment of the disease, as in the case of Galila or allow participation in future clinical studies
The trial was conducted in collaboration with Spark Therapeutics, a biotechnology company based in Philadelphia that specializes in gene therapy for inherited diseases. The company has developed similar gene therapies for other forms of retinitis pigmentosa and for Leber congenital amaurosis, another rare genetic eye disorder.
Israel is a world leader in vision research and innovation, with many advances in diagnosis, treatment, prevention, and rehabilitation of eye diseases and disorders. Some examples include artificial corneas, bionic lenses, nanodrops, eye-tracking devices, and smart glasses.
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