In Russia , the first domestic medicine for SMA began to be tested .
May 25, 2023

In Russia , the first domestic medicine for SMA began to be tested .

Clinical trials of the first domestic gene therapy drug for the treatment of severe orphan disease – spinal muscular atrophy (SMA) have begun in Russia. Now there is an active recruitment of study participants. Three patients have already received life-saving injections.

It is expected that just one injection should stop the development of the disease and give kids with SMA a chance to live a healthy life. The existing drugs for this disease today are among the most expensive in the world. A medicine created by a Russian company is a guarantee of national drug safety. There will be no need to depend on the international political situation and fear that foreign suppliers will leave the Russian market. It is expected that the domestic drug will be more effective and safe.

Spinal muscular atrophy is a genetic disease in which motor neuron degeneration occurs. SMA is caused by a mutation in the SMN1 gene. This protein is necessary for the work of motor neurons — nerve cells responsible for the coordination of movements. Without them, the signal does not enter the muscles. Gradually, with the death of neurons, all muscles cease to function, a person loses the ability to move independently, swallow, breathe. At the same time, intelligence is not affected in any way.

Although SMA is considered rare, however, the disease is one of the most common among orphan. The frequency of occurrence is one case per six to ten thousand people. An average of 150-200 children are born with SMA in Russia every year. This pathology is considered one of the main causes of infant mortality. Approximately one in 40-50 people is a carrier of the "broken" SMN1 gene. If two such "halves" meet and become parents, the probability that their child will be ill with SMA is 25 percent. And this is quite a lot.

Today, SMA is incurable, but there are three drugs that can slow the progression of the disease.

According to research, if a child diagnosed with spinal muscular atrophy begins to receive medications from the first month of life, when there are no symptoms of the disease yet, then not only does he not die, his development is practically no different from healthy peers.

Leave a comment