Child treated with the most expensive drug in the world. It costs two million, public health pays

He is now home with his parents, after a week of checks for side effects (especially liver damage). Have a merry Christmas ending the story of Sofia, the six-month-old baby, who suffers from ‘type 1’ spinal muscular atrophy, cured inSantobono Pausillupon pediatric hospital in Naples with an innovative gene therapy, authorized in Europe in May and in Italy on November 17.

A therapy that has as its center the inoculation of a drug with an exorbitant cost: more than 1.9 million euros throughout the treatment. Spinal muscular atrophy is a genetic neuromuscular disease characterized by the progressive death of motor neurons, that is, the nerve cells in the spinal cord that impart movement to the muscles. It affects approximately one in ten thousand newborns and can affect the acquisition of motor skills, breathing and swallowing. In practice, in two years it can cause death.

The disease, which can present in different forms of onset and severity, is caused, in 95% of cases, by a SMN1 gene mutation which leads to the production of insufficient levels of a protein called SMN (survival motor neuron), which is necessary for the survival and proper functioning of motor neurons.

The very expensive drug allows introducing a “good” copy of the “faulty” SMN1 gene, so that the body can re-synthesize the SMN protein. Obviously, the early diagnosis of this rare genetic disease makes it possible to implement therapy immediately.

“We immediately realized that something was wrong – Sofía’s parents told the Santobono doctors -. Our little girl could not even sit up, in the future she would never be able to walk again.” Sofia suffered from the most severe form of SMA, which goes by the name of Werdnig Hoffman syndrome. A disease that does not allow survival beyond twenty months.

“We were desperate, we felt as if we had plunged into an endless tunnel, with no way out – said Luigi, Sofía’s father – then we knew there was a therapy that could save her life.” A treatment that is based on drugs, three already tested in the United States, one approved in Europe. Hope drugs that have a “flaw”: they cost a fortune.

That EMA approved, the European drug agency, has a name that is a tongue twister: Zolgensma AVXS-101, produced by Switzerland’s Novartis, but developed by a US subsidiary in Bannockburn, Illinois.

The cost? A little treasure. To get a full treatment of bone marrow injections you have to pay a mess, like buying a five-bedroom house with a view in Posillipo: 1.9 million for the entire treatment. The prohibitively expensive life preserver has drawn criticism from several European rare disease associations. “It’s a fair price,” says Vasant Narasimhan, CEO of the pharmaceutical company.

Given the prohibitive price, the pharmaceutical service of the Campania region (President Vincenzo De Luca speaks of a “demonstration of excellence” of the Campania structure), which authorizes the purchase of the drug. A not simple procedure to carry theAVXS-101: involved the Goods and Services area, the Hospital Pharmacy, the Business and Health Management and the entire Neurology team headed by Dr. Antonio Varone. Father Luigi comments: “I thank Dr. Varone, who from the beginning supported and supports our battle against SMA. At first everything seems black, now thanks to this drug that arrived before little Sofia was six months old, we can all have hope. I hope our little girl can guide all the other children affected by this disease. “