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Miracle at Sheba: Transformative Gene Therapy Breathes Hope into Rare Disease Fight

gene therapy
The medical team at Sheba Medical Center has accomplished a historic feat by performing a seven-hour gene therapy surgery on the brain of a four-year-old patient from India. The groundbreaking surgery marked the first-ever gene therapy treatment in Israel.

Adiroop Kumar was diagnosed with a rare genetic disease called AADC deficiency at only six months old. The condition is caused by changes to the gene that produces the enzyme AADC, responsible for producing hormones like dopamine and serotonin, crucial for proper brain and nervous system development. From a young age, Adiroop suffered from irreversible cognitive and movement disturbances, unable to lift his head, walk, sit up, and even speak. 

He was brought from India to Israel with his mother, Raja, to undergo the one-time procedure. This first-of-its-kind surgery valued at $2.7 million was provided to Adiroop and his family free of charge and with all their expenses taken care of. Without this treatment, Airdroop’s life would have been severely limited, as this rare and lethal disease still holds no cure. In Israel alone, over ten children have been diagnosed with this condition recently, with four falling victim to the disease. Records show that there are about two new cases of AADC deficiency per year, with an extremely low survival rate above the age of 10. 

The therapy known as Upstaza is the first treatment in the world where a gene disorder is treated by directly placing the correct gene in the brain. The treatment was offered as part of a global study on Upstaza gene therapy. Health authorities have approved Upstaza for clinical use in Europe, but it is still awaiting approval in Israel and the US. Sheba’s medical team, including Dr. Zion Zibly, Dr. Lior Ungar, and Prof. Bruria Gidoni-Ben-Zeev, conducted the surgery, which provided excellent results and overall success. Following the treatment, patient results have revealed a sharp decrease in infection, and continuous improvement in their motor function, restoring their ability to walk, which didn’t previously exist for many. Further results also show a significant improvement in the patient’s mental, oral, and social functioning. 

The story of Adiroop Kumar is not only an outstanding achievement for Sheba in treating patients through innovative technology but also reveals hope for treating other rare genetic diseases and opportunities for our medical to provide relief to patients worldwide. Dr. Zibly stated, “We work with hundreds of patients, and each and every one of them has a unique story. The same is true in this case, which fills us with the hope that we will be able to save many more lives in Israel and around the world. We believe that this scientific breakthrough will also serve us in other areas and will allow us to bring relief to many patients.”

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