Standing thanks to the most expensive drug in the world

Little Jacob is one of the children Zolgensma has had, an expensive treatment with ‘unimaginable’ effects.

Posted at 5:00 am

Emilie Bilodeau

Emilie Bilodeau
The press

Nine Quebec children have been given the world’s most expensive drug, a $2.8 million treatment that slows spinal muscular atrophy, as it was reimbursed by Quebec. The effects of this new therapy have so far exceeded the expectations of families and physicians.

Jacob stands up! He leans on a table, drives trucks and mumbles engine noises. This scene would have been unimaginable a few months ago. “It’s unbelievable that he gets so much power! exclaims Audrey Cueillierrier, the child’s mother.

The 2-year-old 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 leading genetic cause of death in young children.

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


Two-year-old Jacob had never stood on his feet before Zolgensma’s treatment.

However, the child’s life took a turn when Zolgensma was added to the list of drugs dispensed in institutions and covered by the Régie de l’assurance maladie du Québec in October last year.

Jacob received his dose of Zolgensma on November 24. Only one injection is needed. “We didn’t sell it as a panacea,” explains Audrey Cueillierrier. But so far we are so happy with the result. It is beyond our hopes! †

Jacob has progressed so much. He stands, which he had never done before. Of course we have to help him and he needs a little support, but once he is in a standing position he can stay that way for a few minutes.

Audrey Cueillierrier, mother of Jacob

The pharmaceutical company Novartis, which produces Zolgensma, does not claim that it cures spinal muscular atrophy. She claims her medication, recommended for children under 6 months of age, “slows the progression of the disease.” However, Jacob 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 such as the common cold because he has more strength in his lungs, note his parents Audrey Cueillierrier and Frédérick Beaulieu.

“He is also starting to crawl a little. He lifts his buttocks, pushes his knees and goes forward with his arms. He is not crawling completely yet, but we see that it is coming,” continues the mother of the family, who hopes to see her son walk someday.

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 didn’t think we would see clear and net effects so quickly,” underlines the neurologist who will present the results of the treatment at the gene therapy conference organized by the Faculty of Pharmacy at the University of Montreal, Thursday. †


Cam-Tu Émilie Nguyen, pediatric neurologist

There is a difference in the core strength of children. These are much more secure. Parents told us they turned their backs for a few seconds and their child had moved. For them, this kind of situation was previously impossible.

Cam-Tu Émilie Nguyen, pediatric neurologist

“Sometimes children did not reach their healthy weight because they had difficulty chewing and swallowing. As a result of the Zolgensma treatment, the children have more appetite, gain weight, and have more energy to play all day,” the pediatric neurologist continues.

The National Institute of Excellence in Health and Social Services also recommended last November that spinal muscular atrophy be added to the list of diseases screened from childbirth, like in Ontario and AlbertaThe Quebec Ministry of Health and Social Services is currently investigating 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, ie before the onset of symptoms,” argues the D.d Nguyen.

For example, small patients with amyotrophy could develop like all other children their age.

More information user manual

  • 8
    Number of children born with the disease each year, on average in Quebec

    SOURCE: Ministry of Health and Social Services

  • 1/40
    Percentage of people who are genetically carriers of the disease, ie they carry the mutated gene without being affected by the disease.

    SOURCE: Muscular Dystrophy Canada

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