Adiroop Kumar, 4, from India, suffers from AADC deficiency, a brain disease that makes it difficult to lift his head
Doctors at the Sheba Tel-HaShomer Medical Center made history on Wednesday by performing the first surgery in Israel that delivers gene therapy directly to the brain, reported Sunday. Israel Hayom.
The procedure, which involved injecting the gene directly into the brain of the patient – Adiroop Kumar, 4, from India – took seven hours and cost 10 million shekels (2.6 million euros) per bottle. It was the most expensive surgery ever performed in Israel.
The operation was conducted by Dr. Zion Zibly, director of the department of neurosurgery at Sheba Medical Center, and Dr. Lior Ungar, the department’s senior neurosurgeon. Dr. Bruria Gidoni-Ben-Zeev, head of pediatric neurology at Edmond and Lily Safra Children’s Hospital, oversaw all treatment, as well as follow-up and medical care.
Adiroop had come from India with his mother especially for the procedure. A few years earlier, he had been diagnosed with AADC deficiency, a rare genetic disease caused by changes in the gene that produces the AADC enzyme necessary for the production of certain substances vital for the normal functioning of the brain and nerves, such as dopamine and serotonin. This disease makes it nearly impossible for a child to lift their head, as well as walk and talk.
So far, there is no treatment for AADC deficiency, which most often leads to death before the age of 10. In Israel, ten children have been diagnosed with the disease in recent years, including four fatal cases. About two new cases are diagnosed each year in the country.
Upstaza is a novel treatment that involves introducing a healthy gene into the patient’s brain. It has already been authorized in Europe, and should be in Israel and the United States.
“We work with hundreds of patients, and each of them has a unique story. The same is true in this case, which gives us hope that we can save many more lives in Israel and around the world. We believe that this scientific breakthrough will also serve us in other areas and allow us to relieve many patients,” said Zibly.
“Adiroop is the second child we are treating, and a genetic test performed at the age of six months has diagnosed the disease. Doctors have warned us that his life expectancy may be short. moment I am checking his breathing to make sure he is alive. I really hope there is a chance that he survives this terrible disease,” his mother told the daily. Israel Hayom.
“We hope that in Israel we can start a new life and a new path for our son. We also feel in Israel and in the hospital a humanity and a real kindness, we no longer feel like foreigners. We love the people, the culture, the traditions, the language and the food. This is truly the Holy Land,” she concluded.
