For every 10,000 live births globally, at least one newborn is diagnosed with Spinal Muscular Atrophy (SMA), a rare genetic neuromuscular disorder that causes the motor neurons of the spinal cord and brainstem to die, leading to muscle weakness and atrophy. Due to the nature of the disease, infants with type 1 SMA, the most severe form, will be unable to sit, crawl, or speak, eventually losing the ability to move or even breathe, with many cases resulting in death before the age of two. However, groundbreaking ‘miracle’ drugs have been introduced to the market to treat SMA, albeit at a ludicrous price.
Infants born with the condition have a faulty version of a gene called SMN1. In comparison to healthy babies, their bodies are unable to produce enough of the proteins needed for motor neurons to survive, leading to paralysis. Zolgensma is a revolutionary gene therapy drug that can deliver a working version of the mutated gene directly into the cells, offering the possibility of a cure for this devastating disease. By utilizing a harmless virus called AAV9 as a vector capable of penetrating the blood-brain barrier—a highly selective, semi-permeable membrane—the DNA of the virus is replaced with the new SMN gene. The modified virus subsequently transports the gene to the motor neurons of the spinal cord, facilitating the production of SMN protein and ensuring the survival of the motor neuron cells. Zolgensma is administered via an hour-long intravenous infusion, which can alter the course of a child’s life.
When the drug was approved by the FDA in 2019, the pharmaceutical company Novartis sold it at a price tag of $2.1 million, earning it the title of the most expensive drug in the world. Zolgensma sparked a debate over the affordability and accessibility of life-saving medical treatments. The exorbitant price can be traced back to the research and manufacturing costs involved in developing the drug. Zolgensma falls under the category of precision medicine, which proves to be more effective in treating diseases as it specifically addresses the problem in an individual’s genetic code. Companies have invested significant resources in the discovery and development of new drugs, but less in optimizing the production process. Consequently, the high costs of manufacturing fall on the consumers.
It is also important to consider the factors that can influence the effectiveness of the drug. Doctors believe that administering the drug as early as possible, before symptoms develop, yields the most promising results. For older babies, doctors have to carefully assess the risk-benefit ratio as the treatment may be less effective and riskier. There is significant pressure to make life-saving drugs more accessible. Given the ongoing government agreements with the companies and continuous research, it is a possibility in the future. However, for many families affected by a diagnosis, it becomes a race against time.
Roselle Torres
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