Standing thanks to the most expensive drug in the world

Little Jacob is one of the children to have received Zolgensma, an expensive treatment with “unimaginable” effects.

Emilie Bilodeau
The Press

Nine Quebec children have received the most expensive drug on the planet, a treatment valued at 2.8 million dollars which slows down spinal muscular atrophy, since it has been reimbursed by Quebec. The effects of this new therapy have exceeded the expectations of families and doctors, so far.

Jacob stands up! He leans on a small table, drives trucks and mumbles engine noises. This scene would have been unthinkable just a few months ago. “That he gains so much strength, it’s unimaginable! exclaims Audrey Cueillierrier, the child’s mother.

The 2-year-old toddler has spinal muscular atrophy, a degenerative disease that attacks muscles, breathing, swallowing and the heart. Until 2019, before the first treatments appeared, the disease was the main genetic cause of death in young children.

Jacob, who was diagnosed around 1 year old, had to undergo four lumbar punctures and four Spinzara injections, under general anesthesia, in just a few months. Treatment should be given every four months.

The child’s life took a turn, however, when Zolgensma was added to the List of medications provided in institutions and covered by the Régie de l’assurance maladie du Québec last October.

Jacob received his dose of Zolgensma on November 24. Only one injection is needed. “We weren’t sold it as a miracle drug,” explains Audrey Cueillierrier. But so far, we are so happy with the results. It goes beyond our hopes! »

The Novartis pharmaceutical company, which produces Zolgensma, does not claim to cure spinal muscular atrophy. She claims that her medication, recommended for children under 6 months, “slows down the progression of the disease”. But Jacob, however, has seen his quality of life improve.

He has more energy, he goes from sitting to lying down on his own, he heals better from small viruses like the common cold because he has more strength in his lungs, note his parents Audrey Cueillierrier and Frédérick Beaulieu.

“He’s also starting to crawl a little bit. He raises his buttocks, pushes his knees and moves forward with his arms. He is not crawling completely, but we can see that it is coming, ”continues the mother of the family, who hopes one day to see her son walk.

Towards neonatal screening?

Jacob’s case is far from unique, confirms pediatric neurologist Cam-Tu Émilie Nguyen, who follows children with spinal muscular atrophy at CHU Sainte-Justine.

“I did not think that we were going to see clear and net effects so quickly”, underlines the neurologist who will present the results of the treatment during the Conference on gene therapy organized by the faculty of pharmacy of the University of Montreal, Thursday. .

“Sometimes children didn’t reach their healthy weight because they had difficulty chewing and swallowing. With Zolgensma treatment, the children have more appetite, they gain weight, they have more energy to play all day,” continues the pediatric neurologist.

The National Institute for Excellence in Health and Social Services also recommended, last November, that spinal muscular atrophy be added to the list of diseases screened from the birth of children, as in Ontario and Alberta. The Quebec Ministry of Health and Social Services is currently looking into the matter.

“Gene therapy is an extremely expensive treatment, the most expensive treatment in the world. We therefore want to be able to use it in the window where it is most effective, i.e. before the onset of symptoms, ”argues the D^D Nguyen.

Thus, small patients with amyotrophy could develop like all other children of their age.