6-month-old girl with spinal muscular atrophy saved by the most expensive drug in the world – Corriere.it

An “extremely innovative” gene therapy, authorized in Europe last May and in Italy last November 17, saved the life of a child less than six months old suffering from spinal muscular atrophy (SMA). This happened in the Santobono pediatric hospital in Naples, which subjected the little girl to the first treatment of this type that was carried out in our country. The drug used, considered the most expensive in the world (1.9 million euros for a single treatment), manages to correct the genetic problem by determining the complete regression of the genetic neuromuscular disease that affected the child: Type 1 spinal muscular atrophy. very serious that occurs shortly after birth and causes progressive muscle weakness that makes breathing and swallowing difficult, leading to death within 2 years.

The end of a nightmare

The child is fine and has already returned home after being monitored for a week for side effects related to the administration of the medication. “At first it seems all black … an endless tunnel … – said the little girl’s father -. Now thanks to this drug that arrived before little Sofia was six months old, we can all wait and see the long-awaited light at the end of the tunnel. I hope that our little girl can guide all those who suffer from this disease. The therapy used in Sofia is based on a viral vector that is rendered harmless and is used as a shuttle to transport the missing human gene into the motor cells of the spinal cord, making it possible to produce the missing protein in muscle atrophy.

A team effort

The rapid use of this drug in Santobono was possible “thanks to exceptional teamwork that involved the regional pharmaceutical sector, the hospital’s internal services: Acquisition of Goods and Services, Hospital Pharmacy, Business and Health Management and all the Neurology team directed by Dr. Antonio Varone “.” In recent years, the introduction of innovative therapies – Varone points out – has contributed to radically change the clinical history of the disease, which today remains one of the main causes of mortality The advent of these therapeutic solutions makes the need for greater awareness of early diagnosis that can be achieved through the implementation of neonatal screening projects even more timely. “Luigi, Sofia’s father, adds:” I thank Dr. Varone, who has supported and supports our battle against SMA from the beginning. Thanks also to all the nurses in the department of neu rology ‘.

The goal of the Santobono of Naples

Anna Maria Minicucci, extraordinary commissioner of the Santobono Pausilipon company is also satisfied: “I thank the Region, the Pharmaceutical Service directed by Ugo Trama and all the nursing and administrative personnel of the company who are committed to achieving this important result of care and innovation for a serious genetic disease. This milestone joins the many achieved in recent years by Orn Santobono Pausilipon of Naples, which has now fully established itself among the most important Italian and European pediatric health realities. “For the president of the Campania Region, Vincenzo De Luca, “another extraordinary demonstration of excellence in health in Campania. An even more significant teamwork, taking into account the age of the child.”