Why Spinal Muscular Atrophy treatment is so costly?

Spinal Muscular Atrophy treatment has been revolutionized by the introduction of Zolgensma, a gene therapy. It was first approved for medical use in the USA in 2019. Before we dive into things like why is it so costly, let’s understand a bit about SMA or Spinal Muscular Atrophy.

What is SMA or Spinal Muscular Atrophy?

SMA is a genetic disorder affecting the lower motor neurons. These neurons carry signals from the spinal cord to the muscles and are important for muscle contraction and thus movement. Due to damage to these neurons, there is diminished movement, which leads to wasting or atrophy of the muscle. The affected individual thus becomes weak and floppy and usually dies in a year or two.

What causes SMA?

For proper functioning of the motor neurons, it requires a protein called the SMN protein or Survival Motor Neuron Protein. Those proteins are made by genes called SMN1 and SMN2 genes. Genetic mutation in the SMN1 or SMN2 gene leads to disruption of SMN protein production and dysfunction or death of the motor neurons leading to SMA. Based on the type of mutation SMA can be of three types – SMA-I, SMA-II, or SMA-III, all three have different ages of onset. The gene therapy in question here has been developed to treat SMA Type I.

What is Zolgensma?

Zolgensma is a gene therapy, developed to specially treat SMA-I, also known as Werdnig-Hoffmann Disease. The therapy involves introducing an SMN1 transgene (artificial gene) with the help of AAV9 virus vectors to replace the defective or dysfunctional SMN1 gene. The treatment is a single dose therapy that has to be given to the child before their second birthday. But for a single dose therapy, it is quite costly, why so?

Why is Zolgensma – the Spinal Muscular Atrophy treatment is so costly?

As of today, Zolgensma is the most expensive drug or therapy. Manufactured by Novartis, one-shot costs around $2.125 million. Yes, for normal people it is extremely highly priced, but why so? The reason is SMA is a rare genetic disorder and requires a highly specialized drug. It also took a long time and money to develop it as well. Being a one-time shot, on top of it SMA being a rare condition, the fewer the cases makes the higher price obvious. But as per the international spokesperson of Novartis, the cost of Zolgensma is less than 50% of the total expense that one would incur in 10 years for treating SMA by previously approved therapies. However, over time, with new research and developments, the price is expected to drop.

Know someone requiring money for Spinal Muscular Atrophy Treatment? An effective way would be crowdfunding via different platforms in case there are financial constraints.