Beyond our medicine cabinet

​A couple of months back, the story of a young baby girl called Pia resonated in the European press. The family of this nine-month-old toddler launched a social media campaign and text messaging to raise €1.9 million, the price of the medication to counteract Pia’s disease. She had been diagnosed with spinal muscular atrophy (SMA), an orphan genetic disease weakening her muscles progressively. The treatment is for the moment authorized only in the United States and not in Europe. How come there is such a difference in the authorization of medication, leaving patients in the midst of waiting to be treated?

The treatment against SMA, Zolgensma, is targeted at patients younger than two years. The firm behind the manufacturing is AveXis, which was bought by the pharma giant Novartis in 2018. Already exposed for data manipulation by the American Food and Drug Administration (FDA) after an initial approval of the medication in May, AveXis was questioned about a common issue in the medical landscape: the price at which medical treatments is set.

Searching for a cure

The particular story of SMA has been evolving continuously during the last three decades. In 1995, the disease was identified by Judith Melki’s team at Necker Hospital in Paris. The anomaly arises from a mutation in the SMN1 gene responsible for the creation of a protein for neurons called motoneurons. These are responsible for the contraction of our muscles and glands, directly or indirectly through the spinal cord. Nowadays, around 6,000 to 10,000 children are diagnosed internationally with this disease which reduces their life expectancy to two years.

The process of coming up with a treatment to correct this defective gene had taken numerous tests in France, before a patent in 2007 was delivered for the process of correcting motoneurons in the spinal cord and further research was made on mice. That is when AveXis, a biotech startup company based in Chicago, used the research by the French laboratories to test injections on patients diagnosed with Type 1 SMA, the most advanced stage of the disease. Following the promising results of these tests, AveXis signed a partnership with the French laboratory which owned the patent, valid in Europe, USA and Japan, to inject the treatment into the nervous system. AveXis was bought by Novartis in 2018 for $8.7 billion, equivalent to €7.4 billion.

Previous debate in the pharma

Pia’s parents had hoped that their daughter would become part of the treatment group during the clinical tests. Despite being treated with an already existing medication, the parents hoped for a better and more effective way to slow down Pia’s disease. Zolgensma was not the