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A 6 month old girl affected by muscle atrophy in the spine (Sma) was saved at the Santobono pediatric hospital in Naples thanks to a gene therapy defined by the hospital as “extremely innovative” and authorized in Europe last May and in Italy on November 17. Therefore, it is the first treatment of this type to be carried out in our country. The child is well and has already returned home after being monitored for a week for side effects related to the administration of the drug considered the most expensive in the world (1.9 million euros for a single treatment),
The little girl suffered from type 1 spinal muscular atrophy, a very serious genetic neuromuscular disease that, according to the Santobono di Napoli, arises immediately after birth and causes progressive muscle weakness that compromises breathing and swallowing, causing death within two years. of life. The drug administered to the Santobono in Naples corrects the genetic problem, causing the complete regression of the disease. This therapy, in fact, is based on a harmless viral vector that, deprived of its genetic heritage, is capable of carrying the missing human gene to the motor cells of the spinal cord, allowing the production of the missing protein in this disease.
The rapid use of this drug in Santobono was possible thanks to teamwork that involved the regional pharmaceutical sector, the hospital’s internal services (Acquisition of Goods and Services, Hospital Pharmacy, Business and Health Management) and the entire Neurology team of the Uoc directed by Antonio Varone.
Dad: “Now we see the light at the end of the tunnel”
Luigi Russo, the little girl’s father, thanked “Dr. Varone who from the beginning has supported and supports our battle against SMA. At first everything seems black, an endless tunnel. Now, thanks to this drug, he arrived before 6 “. months of little Sofia, we can all wait and see the long awaited light at the end of the tunnel. I hope our little girl can guide everyone else affected by this disease. Thanks also to all the nurses in the neurology service ”.
For Antonio Varone, head of Neurology at Santobono, “in recent years the introduction of innovative therapies has contributed to radically change the clinical history of the disease, which today remains one of the main causes of infant mortality. The arrival of these solutions. therapies makes the need for greater awareness of early diagnosis that can be achieved through the implementation of neonatal screening projects more relevant than ever. “
Another extraordinary demonstration of excellence in health care in Campania ”, commented the president of the region Vincenzo De Luca. “An even more significant teamwork if we take into account the age of the child and the possibility it offers Santobono to be able to practice, for the first time in Italy, an avant-garde therapy that meant the resignation of the little patient. I would like to thank the strategic direction, the doctors and all the staff of the Santobono, for this great additional result obtained “.
