“There is no need to talk about an increase in the incidence”: a neurologist spoke about drugs for SMA

- Recently, we often hear about patients diagnosed with SMA (spinal muscular atrophy), although only half a year or a year ago nobody knew about the real extent of this disease in Russia. Is it because there were no medicines before and it was not possible to help such patients? Or with the fact that the number of cases has increased markedly?

- No, it’s not necessary to say that the disease is growing. The point is in the diagnosis - it has noticeably improved, including DNA, to confirm spinal muscular atrophy, or in another way SMA. The treatment itself has also improved, especially in terms of blocking the development of the disease.

- What signs in children and adults indicate SMA?

- SMA is genetically quite diverse - some signs of the disease sometimes appear even from birth. This applies to the first type of SMA.

The disease begins in utero, progresses rapidly, which can shorten the life of a child up to two years without therapy.

But it happens that the symptoms of the disease may appear later - and after six months, or even after a year or three years. As a rule, patients have complaints about the development of muscle weakness, the absence of reflexes, the disease gradually progresses, in some cases leading to the fact that patients lose their ability even to walk.

- Is it true that adults tolerate SMA more easily?

- If SMA occurs in adulthood, then, as a rule, this does not lead to severe disability and does not greatly affect life. But if spinal myotrophy began, say, from a year, then, as a rule, it leads to a reduction in life expectancy and deep disability, including severely limiting the ability to walk. On the other hand, if you start treatment for an adult who has only appeared signs of the disease, then you can achieve good results, up to a complete stop of the development of the disease. The same is true for children. But they, unfortunately, have less time for this. As a rule, in young children, respiratory failure occurs earlier, contractures develop faster. These indications are monitored by a whole team of doctors: orthopedists, pulmonologists and others.

- Is it possible to predict the appearance of SMA in a child based on DNA analyzes of his potential parents?

- All DNA analyzes are quite well informative, and since, purely statistically, SMA is found in every 36th person, I would advise all parents to pass such a screening. In fact, if two carriers want to have a family and children, the risk of having a child with SMA reaches 25%. Given such a high frequency of carriage and the fact that we know a lot about this disease, I would advise everyone who plans to start a family, or maybe even just planning to get married, test themselves for the carriage of a pathological gene. And, if a person is a carrier, it is advisable to check your other half.

If it turned out that both parents are carriers, there is still a chance of having healthy children, provided that prenatal or antenatal diagnosis is carried out, followed by in vitro fertilization. If the family already has a sick child and pregnancy occurs, you can screen the fetus and then decide whether to continue the pregnancy.

Clinical trials have shown that if you start treating a child who does not have physical symptoms of SMA, but with a DNA mutation, from birth, then with proper observation and use of Spinrase, in most cases, by the age of five, children do not develop any signs of SMA and do not differ from peers.

- Where can I get a similar study on SMA in an unborn child?

- This can be done here in Moscow at the Medical and Genetic Center under the Research Institute of Pediatrics named after Veltishchev. There are other laboratories located throughout Russia.

- It's free?

- For parents who want to be checked for an unborn child, it is paid. But its value is by no means prohibitive. Today, the usual screening for potential parents includes a number of diseases, the analysis of which can be done for free, they are fixed by law, but unfortunately there are no SMA among them yet.

- Now patients are recommended the drug "Spinrase". How long has it become known about him in Russia and abroad?

- The international practice of using the drug in clinical trials began in 2011. Studies have proven its effectiveness for different categories of patients. In Russia, the drug was successfully registered in mid-2019, although some knew about it much earlier.

- How effective is the treatment with Spinrazoy?

- As for Spinrase, if you start to be treated before the development of symptoms, the development of such children will not differ at all from their peers. Other drugs have so far been less studied and there is no evidence that with their help a patient with symptoms of SMA will be cured. Yes, he stops the death of motor neurons of the spinal cord, the disease does not progress. But those paralyzes and those complications that already exist remain - rehabilitation is already doing this.

- Among your patients there are those who gave such an injection?

- Patients taking Spinrazu have been under our supervision for six months. There are patients who have injected somewhere abroad. But they all started to be treated already with symptoms, and all the symptoms have not yet disappeared. It takes time. Although clinical studies have shown that even children with first-type SMA, due to which they are believed to be unable to sit, hold their heads poorly, after the introduction of the Spinrase preparation they have acquired the ability to sit, some to stand, and some to even walk. Everyone has a different reaction, but the sooner treatment is started, the better the effect.

- If you turn to the official data of medical reports, how is the experience of using the drug “Spinraza” assessed at the base of your medical institution as part of the early access program?

- We have already achieved positive results. So, we evaluate the children who take Spinrazu for 6 months with us on special scales, where plus 10 points is a positive trend. Typically, these children, on the contrary, lose two points each year. But here we see in six months an increase of 10 points. This, in principle, is comparable with the results in other countries for such a minimum observation period.

As a result of open early access to the drug in Russia, 41 patients are being treated today, several specialized centers in Russia are engaged in this.

- There are side effects from Spinrase. What is known about them?

- All the side effects are known to us, and they are described in the instructions. There are not many of them, in principle, and most often they are connected with the route of administration itself. For example, spinal puncture, that is, the introduction of the drug into the cerebrospinal fluid, can cause headache, back pain, but short-term. In general, the drug is well tolerated. For other existing drugs side effects are greater.