The little girl, who suffered from spinal muscular atrophy, was treated at the Santobono hospital: the disease has receded and the girl has already returned home
Type 1 spinal muscular atrophy is a very serious genetic neuromuscular disease that arises shortly after birth and causes progressive muscle weakness that makes it difficult to breathe and swallow, leading to death within 2 years. The gene therapy administered to the Santobono, on the other hand, allows a complete recovery: it is based on a viral vector that is rendered harmless and is used as a “vector” to carry the missing human gene to the motor cells of the spinal cord, which are they become capable of producing the missing protein. .
The girl, after treatment, was monitored for a week for any side effects and was then able to go home with her parents. Who thanked the doctors for “supporting them in our battle against SMA. At first everything seems black … an endless tunnel … Now thanks to this drug came Before little Sofia’s six months 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 with this disease. Thanks also to all the nurses in the neurology department. “
One result, underlines Dr. Antonio Varone, team director of the Neurology Operative Unit, possible thanks to “the introduction of innovative therapies that have contributed to radically change the clinical history of the disease, which continues to be one of the main causes infant mortality today. The advent of such therapeutic solutions makes the need for greater awareness of early diagnosis through the implementation of neonatal screening projects more relevant than ever. “
