Therapeutic defect: in ten regions, adults with SMA cannot receive medications
People with spinal muscular atrophy (SMA) face interruptions in obtaining the necessary medications, "Izvestia" found out. If in 2025 such cases were isolated, then in 2026 there were more of them. The Ministry of Health stressed that it is important for SMA patients not to interrupt treatment, and the introduction of Russian drugs should help avoid such situations. Why difficulties arise and how to solve the issue is in the "Izvestia" material.
Where did the medication shortages start?
There are 1,617 SMA patients in Russia, 599 of them are adults. These figures were announced at the XI conference of the CMA "Assistance to patients with spinal muscular atrophy 2026".
SMA is a rare hereditary disease in which motor neurons, nerve cells responsible for muscle function, are gradually damaged. As a result, they weaken and atrophy, and it becomes difficult for a person to walk, swallow, and breathe.
Now the disease can be successfully controlled, experts say. Therapy slows down its progression, helps to maintain motor functions and reduces the risk of severe complications. The earlier the diagnosis is confirmed and treatment is started, the better the prognosis.
Previously, the necessary drugs were supplied to Russia from abroad, but now domestic analogues have appeared. However, it turned out that they are not suitable for everyone: some have undesirable reactions, and such people need imported medicines.
According to experts, it is much more difficult for adults to get the necessary expensive therapy than for children. Even those who have already started treatment face interruptions. ""This problem has been recorded in at least ten Russian regions," the "SMA Families" charity foundation told Izvestia. We are talking about the Vladimir, Vologda, Moscow, Nizhny Novgorod, Ulyanovsk and Saratov regions, St. Petersburg, Stavropol Territory, Tatarstan and the Chechen Republic.
"Patients often face this problem suddenly: the drug is not given out or administered because it is not available," explained Olga Germanenko, director of the foundation.
""There are no problems with medicines for children, the situation with adults is much worse," Alexander Kurmyshkin, a neurologist and director of the fund "Assistance to Families of SMA", confirmed to Izvestia.
"Izvestia" was informed by Roszdravnadzor that in 2025 they received five appeals from people with SMA, four of them were related to breaks in therapy.
"During the current period of 2026, the service received only two requests regarding preferential drug provision from patients with this disease," the department added.
How SMA is treated
Now the disease is detected even in 65-year-old patients through a selective screening program, Alexander Polyakov, head of the scientific department "Molecular Genetics" at the Moscow State Medical Center, said at the conference.
"The patient is one in 7 thousand, and the carrier is one in 35," he stressed.
For the fourth year now, children have been tested immediately after birth. According to experts, it is easier for minors to get the necessary help.
But in general, SMA has moved from a disease with extremely limited treatment options to a category of diseases for which pathogenetic therapy exists, Nikolai Shamalov, chief freelance neurologist at the Russian Ministry of Health, told "Izvestia".
According to him, adult patients are primarily prescribed nucinersen and risdiplam. Both domestic and foreign drugs with these active ingredients are registered in Russia.
— The availability of various registered drugs allows for a stable supply. The healthcare system is focused on ensuring that such patients receive therapy without interruptions, and organizational issues that arise are resolved individually," the doctor emphasized.
For SMA, continuity of therapy is fundamentally important, therefore, drug provision should be planned in advance, Nikolai Shamalov noted.
— The development of Russian production has become a factor in the sustainability of the system. A domestic nusinersen drug has been registered in the country, as well as risdiplam drugs. This creates additional opportunities for supply planning and reducing dependence on a single supply channel," he added.
Why are there difficulties with treatment?
In most cases, the disruptions are due to insufficient local funding, the "SMA Families" foundation noted. In addition, there are organizational problems: drugs that have already been purchased are delayed, and new purchases are being made untimely.
— Drug provision for adults with SMA falls entirely on the subjects of the Russian Federation and, thus, depends on the person's place of residence, resources and the willingness of the region to ensure their right to therapy, — said Olga Germanenko.
Some adults who have applied to the foundation are already experiencing a deterioration in their condition due to forced breaks.
In 2021, when the "Circle of Goodness" foundation began operating, fully providing therapy for minors with SMA, the regions released funds to help adults. As a result, the proportion of adults receiving the necessary medications has increased from 26% to 76% in three years, Olga Germanenko said. By 2026, the figure has reached 83%.
"The frequent interruptions in receiving medicines today show that the regions have reached a certain "threshold of budget endurance" and are no longer able to cope with rising costs," she stressed.
"" According to the expert, the number of adult patients is growing due to new cases of the disease and "graduates" of the Circle of Goodness, who need help even after adulthood. However, from the middle of 2025, reports of failures began to arrive, and in 2026 the situation escalated and affected more regions.
"The problem has affected even the most prosperous regions, where for all these years people have been able to receive prescribed therapy quickly and without obstacles,— Olga Germanenko emphasized.
Sometimes all issues can be resolved through appeals to Roszdravnadzor or the prosecutor's office, in some cases patients file lawsuits in court. However, these processes take time that people with SMA do not have: any delay means the risk of loss of motor skills, which will probably be impossible to compensate for.
Neurologist Yulia Shpilyukova also drew attention to the problem of accessibility of medical care for adults with SMA. According to her, there are not enough studies involving adult patients, although they are necessary to understand the natural course of the disease and evaluate the effectiveness of therapy.
"We need to understand these nuances in order to plan a system of medical and social care for adults," she stressed.
How to solve the problem
First of all, it is necessary to ensure equal access to medicines for children and adults with the same disease. In addition, it is worth considering the inclusion of SMA in state programs for the organization of drug provision upon the fact of a diagnosis, rather than a disability, Olga Germanenko believes.
"The best solution for the regions would be to immerse the SMA in federally funded programs, such as high—cost nosologies," the expert said.
In addition, SMA can be included in the list of life-threatening and chronic progressive rare (orphan) diseases leading to a reduction in life expectancy or disability, approved by Decree of the Government of the Russian Federation No. 403. Since 2026, a mechanism for federal co-financing of drug purchases has been in place for subjects where people with diseases from this list live.
"As long as SMA is not included in this list or the VZN program, monitoring and control over the provision of adult patients with the necessary drugs, annual planning of sufficient funding from regional budgets, as well as optimization and timely implementation of procurement procedures, taking into account the inadmissibility of interruptions in treatment, remain relevant," Olga Germanenko emphasized.
According to Nikolay Shamalov, personalized accounting of patients with SMA is needed, forecasting the need for drugs, purchasing in accordance with the therapy schedule and monitoring the timing of the next administration or delivery of the drug.
— For those who receive nucinersen, it is important to plan in advance for intrathecal injections and hospitalization or a visit to a specialized center. With risdiplam therapy, it is important to receive the drug regularly for daily use at home," he said.
The modern model of managing patients with SMA makes it possible to significantly reduce the dependence of the quality of medical care on the place of residence, Nikolai Shamalov noted. It is optimal to combine monitoring in a polyclinic with remote support from a regional or federal specialized center.
Adults with SMA need monitoring of pathogenetic therapy and comprehensive medical support — assessment of motor functions, respiration and nutrition, clinical and biochemical analyzes, ECG, the expert concluded.
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