A six-year-old girl from Eritrea who was born with a rare genetic disease that causes blindness has regained her sight after receiving an innovative gene therapy in Israel.
Galila Yohannes was diagnosed with retinitis pigmentosa (RP), a condition that affects the retina and leads to progressive vision loss. She was brought to Tel Aviv Sourasky Medical Center by a humanitarian organization that helps refugees and asylum seekers.
There, she underwent a groundbreaking procedure that involved injecting a virus that carries a healthy copy of the gene into her retina. The virus replaces the faulty gene and restores the function of the photoreceptor cells, which are responsible for converting light into electrical signals.
The treatment, which has been approved by the US Food and Drug Administration (FDA) and the European Medicines Agency (EMA), was performed by Dr. Shulamit Schwartz and Prof. Dina Zur, who specialize in retinal surgery and advanced technologies.
“We are very excited about this breakthrough, which opens a new horizon for treating patients with retinal degeneration,” said Prof. Zur, who is also the director of the Center for Retinal and Macular Degeneration at Tel Aviv Sourasky Medical Center.
“This is a historic moment for ophthalmology in Israel and worldwide,” said Prof. Ehud Assia, director of the Ophthalmology Division at Tel Aviv Sourasky Medical Center.
Galila is the first child in Israel to receive this treatment, which has been developed by Spark Therapeutics, a biotechnology company based in Philadelphia. The company has conducted clinical trials on more than 40 patients with RP caused by mutations in the RPE65 gene, which is one of more than 100 genes that can cause RP.
According to Spark Therapeutics, the treatment has shown long-term efficacy and safety, with patients experiencing significant improvement in their vision and quality of life.
“Galila is a very brave girl who underwent a complex and pioneering procedure. We are happy to see her smile and enjoy life again,” said Dr. Schwartz, who is also the head of the Pediatric Ophthalmology Unit at Tel Aviv Sourasky Medical Center.
The success of this treatment is a significant milestone in the development of gene therapies for inherited retinal diseases, which affect millions of people worldwide.
“The success of this treatment is a significant milestone in the development of gene therapies for inherited retinal diseases,” said Dr. Stephen Rose, chief scientific officer of the Foundation Fighting Blindness, a nonprofit organization that funds research on blindness-causing diseases.
“This is a very exciting time for the field of gene therapy for inherited retinal diseases, as we are witnessing remarkable progress and innovation,” said Prof. Robert MacLaren, professor of ophthalmology at the University of Oxford, who has also conducted trials on gene therapy for RP.
The hope is that gene therapy will eventually be available for other forms of RP and other inherited retinal diseases, such as Leber congenital amaurosis (LCA), Stargardt disease, Usher syndrome, and choroideremia.
Gene therapy is also being explored for other eye diseases, such as age-related macular degeneration (AMD), glaucoma, diabetic retinopathy, and corneal dystrophy.
The field of gene therapy has been advancing rapidly in recent years, with several products being approved or under development for various diseases, such as spinal muscular atrophy (SMA), hemophilia, sickle cell disease, and cancer.
Gene therapy offers a potential cure for many genetic diseases that have no effective treatments or cures. However, there are also challenges and risks involved, such as ethical issues, regulatory hurdles, high costs, immune reactions, and unintended effects.
As gene therapy continues to evolve and expand, it promises to transform medicine and improve the lives of millions of people around the world.
Relevant articles:
– Israeli doctors restore eyesight of girl with degenerative disease, MSN, 8/17/2023
– For the first time in Ichilov: Doctors restore vision to six-year-old girl using innovative gene therapy, Israel Hayom, 8/17/2023
– Experts Convene to Advance Gene Therapy for RPGR-Associated XLRP, Physician’s Weekly, 8/16/2023
– Israeli doctors restore blind woman’s vision in breakthrough procedure, Israel Hayom, 1/4/2022