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In addition to viruses and bacteria, there are many dangerous diseases in the world. The most insidious of them are rare and incurable. Thus, spinal muscular atrophy (SMA) is considered the most common cause of genetically determined childhood mortality. The first signs of the disease appear suddenly and are characterized by a change in personality, a decrease in intellectual abilities and difficulty walking.
As the disease progresses, control over the muscles weakens, which leads to a halt in the normal development of the body, respiratory failure and subsequent death. Fortunately, science does not stand still and scientists have managed to develop an effective drug for the treatment of SMA in children called Zolgensma. To date, the cost of the drug exceeds two million dollars, which makes the drug the most expensive drug in the world.
Hereditary diseases
As biology professor Richard Dawkins writes in his book The Selfish Gene, all living things on Earth are “survival machines for selfish molecules called genes.” This means that in the course of the natural process of development of wildlife, organisms have adapted to changing environmental conditions, passing on the genetic material necessary for survival to the next generations.
From time to time, errors occur in the copying of genes – the so-called mutations that can lead to the development of rare hereditary diseases. Most often, such diseases are transmitted from biological parents and occur spontaneously. Thus, SMA claims the lives of children under the age of two years, and the life expectancy of adults with this diagnosis most often does not exceed 25 years .
Hawking had a rare, slowly developing form of motor neuron disease (also known as amyotrophic lateral sclerosis)
Despite the fact that the cure for SMA was developed in 2019, a complete recovery of patients is not possible, and the timing of treatment of such patients is most important. Ideally, treatment should begin before the onset of symptoms, which is especially important with Zolgensma, which is approved for use in children under six months of age.
Unfortunately, the human body cannot replace damaged motor neurons in the brain. However, the researchers note that the new drug will save many lives and save families from untold pain and grief.
Gene therapy
To understand why the cure for SMA is the most expensive in the world, let’s turn our attention to gene therapy – the treatment of hereditary diseases by introducing genes into the patient’s cells in order to change the defect or give the cells new properties. Thus, doctors and families of SMA patients hope that sooner or later a drug will make this disease curable, although the long-term prognosis for children receiving the drug is still unknown.
It should be noted that gene therapy has already established itself as an effective and safe method of treating many genetic diseases, the cause of which is a change in hereditary material. However, the cost of the latest drugs makes them inaccessible for widespread use in medical practice.
Gene therapy has already proven to be a fairly effective and safe method of treating many diseases.
Clinical trials of Zolgensma have shown that only one dose is required to achieve efficacy, and treatment should be carried out before the onset of symptoms. This is particularly important in the case of the new drug, which has only been approved for children under six months of age to date , although the prognosis for long-term treatment is still unknown.
At the same time, the effectiveness demonstrated in trials of the latest drugs and their high cost raise a number of ethical questions regarding the increase in prices for new innovative drugs. Thus, the available methods of treatment have shown stunning results that no one could have dreamed of just a couple of decades ago. British researchers have previously successfully treated a hereditary kidney disease that affects children and young adults.
The most expensive drug in the world
So, why is a drug worth millions of dollars to treat a range of dangerous genetic diseases? One of the reasons a muscle wasting drug is so expensive is the clinical development phase, which costs millions of dollars. At the same time, the preclinical stage itself and the experiments are not so expensive. Plus, there are not so many consumers of the drug for SMA, which also affects the cost.
SMA is a genetic neuromuscular disease that affects the motor neurons of the spinal cord.
To date, two drugs have been registered in Russia for the treatment of this rare disease – Nusinersen (Spinraza) and Risdiplam. One injection of Spinoza, for example, costs at least $125,000. Recently, the Zolgensma drug, which is used in other countries, has recently appeared in Russia. The most expensive drug in the world is produced by the Swiss company Novartis.
Spinraza (nuninersen) was the first drug approved by the US FDA for children and adults with SMA in December 2016. Spinraza is an injection into the fluid surrounding the spinal cord.
Since spinal muscular atrophy is the leading genetic cause of death in infants and young children, treatment should be available. Among the three currently available drugs for the treatment of SMA, Zolgensma is considered the most effective.
Unfortunately, SMA is an incurable disease.
A 2016 study published in the Journal of Health Economics showed that it takes about $2.6 billion and more than 10 years of work to create a single dose of the drug.
