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Doctor of SPbSPMU told about the experience of treatment of spinal muscular atrophy

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Опубликовано: 29.01.2021

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Doctor of SPbSPMU told about the experience of treatment of spinal muscular atrophy 

Two babies with a rare neurological disease were discharged from the clinic of Pediatric University. These patients started receiving specific therapy at the early age.

Spinal muscular atrophy (SMA) is a genetic disease that manifests as increasing muscle weakness. The patient progressively reduces the ability of the muscles to contract, which leads to a violation of breathing and swallowing. At the same time, the intellect is absolutely preserved, and the person is aware of all the terrible changes that are happening to him.  

Every year, about 200 children with SMA are born in Russia. There are various forms of this disease, the most severe ─ Werdnig-Hoffman disease ─ the first symptoms of which appear before the age of 6 months and quickly progress. Without respiratory support, such babies rarely lived up to two years old before, and doctors could only offer them palliative care. 

Today, the situation has changed. There are drugs whose action is aimed at increasing the level of the functional protein SMN   in people suffering from spinal muscular atrophy, it is reduced. This protein is necessary for the motor neurons of the spinal cord to function. If you start treatment in time, you can stop the death of motor neurons, which means that you can avoid the serious consequences of the disease. Neurologist Diana Bayunchikova told about the experience of using the first oral drug for the treatment of SMA at the Pediatric University.

 

- Two small patients came to us at the age of two months. After a genetic examination, the diagnosis of spinal muscular atrophy type 1 was confirmed. These children were included in the program of pre-registration access to the drug   at that time it was not yet registered in the territory of the Russian Federation for the treatment of SMA. When the patients were 4 months old, we were able to start specific therapy, ─ she said.

The babies together with their mothers were in the department of pathology of newborns and infants of SPSPMU for about 10 months. At the end of December, one child was discharged home, and the second was transferred to a hospital at the place of residence. 

According to doctors, now the condition of patients has improved significantly. At the time of admission to the Pediatric University Clinic, they could only move their hands, needed non-invasive ventilation, and received enteral nutrition. Currently one patient is already breathing on her own and is able to swallow. In addition, the baby moves her arms and legs, has learned to grab toys and actively pull them into her mouth. Serious progress is also observed in the second patient, whose condition was initially more severe. He is making visible progress in the development of motor skills too, although there is still a need for respiratory support.  

 

– As long as these children take the drug, there will be no deterioration. It is difficult to say how much they will be rehabilitated, whether they will be able to get up and walk independently. But, according to research, about 30% of children who received the drug for a year, were able to hold a sitting position, 83%   could roll from side to back and were able to eat independently. According to the experience of foreign colleagues, a patient who has been receiving the drug for 2.5 years, has learned to walk with support by the age of 3,  said Diana Bayunchikova.

The doctor also emphasized that in addition to drug therapy, timely and complete rehabilitation and daily hygiene procedures at home play a huge role.

 

- After taking the drug, the child's condition will not change in one day. This is just the beginning of the path that parents will have to take. Such children need a lot of medical equipment after discharge. It is mandatory to have an aspirator, a coughing device, a ventilator, an infusion pump, an Ambu bag, and various consumables at home. It is great that there are funds that help such families, the SMA Families Foundation helped us a lot. In addition to financial support, the foundation provides enormous information assistance to parents. Of course, children need careful care and various procedures   including massages, vibration massages, motor rehabilitation, positional therapy and other activities,  she stressed.

Sakinat, the mother of one of the patients, said that returning to her native Nadym after a long treatment was a great happiness for both her and her younger daughter Rayana. The three eldest daughters of Sakinat now literally do not leave their sister. 

 

– From the very beginning, I wasn't sure that everything would be all right. But there is always hope, and there was a positive attitude from the very beginning. I hoped that everything would work out. I do not set a high bar that she will walk and develop like her peers. The fact that the child breathes on her own, that she can be taken care of at home with such a disease is already very pleasing,  the patient's mother said and added: «From the moment we started receiving the drug, the disease stopped progressing. With our diagnosis, this is a huge success». 


 

How is spinal muscular atrophy diagnosed?

With spinal muscular atrophy, it is very important not to be late with treatment. It was mother's vigilance that helped stop Rayana's illness. Sakinat noticed in time that her girl, who was born completely normal, had become apathetic and lethargic. 

 

- She slept a lot, woke up only for feeding. It seems to be convenient for any mother – the child sleeps and eats, sleeps and eats. But, since this is my fourth child, I started to blow the whistle. And I turned to the district pediatrician with my concerns,  the woman said.

Fortunately, the doctor was attentive to mother's complaints. After a hospital examination, the child from the Yamalo-Nenets Autonomous District was sent to Saint Petersburg. 

 

- If a child suddenly has hypotension at an early age   he is sedentary, he has reduced muscle tone, he does not move much  then you can suspect a neuromuscular disease. In this case, electroneuromyography is necessary, and then a genetic study,  said Diana Bayunchikova. 

The diagnosis of spinal muscular atrophy is not yet included in the mandatory neonatal screening. The need to add the SMA to this list is still under discussion.

What is the treatment for spinal muscular atrophy? 

There are three drugs that are used to treat SMA.

In August 2019, the pharmaceutical company Biogen registered the drug «Spinraza» (nusinersen) in Russia. The drug is injected into the spinal cord every few months. Such injections are required for life.

In November 2020, the registration certificate was received by «Evrisdi» (risdiplam) from Roche, which is similar in principle to Spinraza, but is available in the form of a solution for oral administration, so it can be used at home. 

Finally, the most famous and most expensive drug in the world for SMA  «Zolgensma», the rights to which are owned by «Novartis»«Zolgensma» replaces the missing or defective gene that is responsible for the production of the SMN protein with its functional copy. This drug is not registered in Russia yet, but it is likely that next year the situation will change.

Currently, research is also underway on combination therapy, when a patient begins therapy with one of the drugs, and then he is injected with «Zolgensma»

 

– All three drugs are aimed at the same result. They restore the content of the functional protein SMN in human blood plasma. Accordingly, there is no destruction of motor neurons and we do not observe the progression of hypotension. This allows a child to develop according to age. But all this will be effective, as long as the therapy was initiated at the very beginning of the disease, until clinical signs developed or they were insignificant. The later the treatment begins, the more difficult it is to restore motor functions, the function of breathing and swallowing. Also, with the course of the disease, there are multiple organ complications, which are often not reversible,  ─ explained the neurologist of SPbSPMU. 


Currently, 230 patients who need «Eurisdi» receive it under the early access program to the drug. Starting next year, the treatment of children with SMA will be sponsored from a fund created by raising the personal income tax to 15% for people whose income exceeds 5 million rubles a year. President Vladimir Putin has already signed the relevant law.

Date of publication: 29.01.2021

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