Rare gift: orphan patients in Russia were the first to receive innovative drugs
Orphan Diseases Day is celebrated worldwide on February 28 (and on February 29 in leap years). For many patients with rare diagnoses, it is very important to develop targeted therapy that does not treat symptoms, but works with gene breakdown. Fortunately, in recent years there have been more and more innovative drugs that allow such people to live normally. In January, children with dystrophic epidermolysis bullosa, patients of the Center for Genetic Dermatoses of the Moscow region, received an innovative drug, after which it was sent to the Russian regions. The drug was developed by an American company and has so far been registered only in the United States, but children in Russia were among the first to receive it. Izvestia has learned how the most innovative drugs can be delivered to Russian orphan patients as quickly as possible.
What kind of drug did butterfly children receive
Epidermolysis bullosa is a rare genetic disease in which the strength of the skin is greatly reduced, and in severe cases, the mucous membranes. It is also known as "Butterfly disease" — due to the fact that human skin becomes just as tender and vulnerable.
Until recently, there was only symptomatic therapy. Vijuvek is the first targeted drug that introduces a functional copy of a gene into the body that did not work in the patient. This is a topical gel. When applied, the skin cells acquire the ability to function as healthy for a certain period of time. Even in patients with severe forms of epidermolysis bullosa, wounds heal, and the effect is quite long-lasting. The drug greatly simplifies the care of parents for children, improves the quality and life expectancy of patients.
It was developed in the USA, but it is Russian children who receive this innovative therapy among the first in the world, said Alyona Kuratova, head of the Butterfly Children Foundation. Now the organization, together with the state foundation "Circle of Goodness", is engaged in training specialists in the regions in order to implement a weekly scheme for the use of therapy in hospitals for their wards. Training is necessary because the medicine has a complex storage procedure, a special mixing and application technique.
It is expected that 150 children from 65 regions will receive the medicine. The first batch of the drug has already been delivered to 23 regions of the Russian Federation in early 2025.
How to negotiate with foreign pharmaceutical companies
The Circle of Goodness Presidential Foundation finances the purchase of expensive medicines for children through an increased tax rate for citizens whose income exceeds 5 million rubles per year. It provides, among other things, the purchase of medicines and medical devices that have not yet been registered in Russia.
The organization told Izvestia that among the medicines purchased by the fund, five are innovative gene therapy drugs that introduce a functional copy of a gene that does not work in a patient. In addition to Vijuvek, these are drugs for the treatment of spinal muscular atrophy (SMA) — Zolgensma, Duchenne muscular dystrophy — Elevidis, L-aromatic amino acid decarboxylase deficiency — Apstasis, hereditary retinal dystrophy - Luxturna.
— As soon as a new drug with proven efficacy and safety for the treatment of orphan disease appears in the world, it can quickly become available to Russian children, — emphasized in the Circle of Goodness.
The Fund directly negotiates the purchase of unregistered drugs with manufacturers and suppliers together with the Federal Antimonopoly Service.
— This allows us to achieve the most favorable conditions for the supply of medicines to Russia. The logistics of supplies are now somewhat complicated, but the drugs are generally delivered promptly," the organization's press service said. — The fund's list of purchases currently includes 117 items of registered and unregistered medicines, medical products, and rehabilitation equipment in Russia.
Patient organizations and charitable foundations are also involved in negotiations with pharmacists. In particular, the Butterfly Children Foundation told Izvestia that the process of negotiations on the Half-Century took 1.5 years. The organization did not disclose the details of the negotiations, but named the key points that influenced the positive outcome.
— Our foundation has the largest database of patients with epidermolysis bullosa in the world. And the country has a unique financial instrument for guaranteed procurement," explained Anastasia Zonina, Director of Public and Government Relations at the foundation.
In many ways, thanks to this mechanism, Russia could become the first in the world in providing orphan patients. At the same time, the political background does not influence pharmaceutical companies' decision-making on the supply of innovative drugs, although it significantly complicates logistics.
The situation is similar with drugs for children with Duchenne myodystrophy. Five of the eight modern drugs approved by international regulators are available for them in Russia, while the Gordey Charitable Foundation also has one of the largest patient registries in the world. Olga Gremyakova, the founder of the organization, emphasizes that patients receive gene therapy drugs as quickly as possible, taking into account the "unprecedentedly complex logistics" — the delivery time is two to six months, depending on the drug.
— The Gordey Foundation is in contact with all companies whose drugs have shown good results in clinical trials, — Olga Gremyakova told Izvestia. — Another important task of ours is to inform about new opportunities and drug therapy options.
What problems remain
Yuri Zhulev, co-chairman of the All-Russian Union of Patients, also emphasizes that there are contacts with foreign manufacturers and most orphan drugs now come from abroad.
— However, there are limitations — these are clinical trials of innovative drugs, which are currently not very actively conducted, — said the expert.
There are still diseases that are not yet included in the list of diseases of the foundation. For other patients, waiting for life-saving therapy can take a very long time, Yuri Zhulev noted.
There is also the problem of "graduates" of the foundation, experts say, that is, those who will stop receiving drugs from the foundation upon reaching the age of 19. Member of the Expert Council of the State Duma Committee on Health Protection for Rare Diseases, Chairman of the Board of the All-Russian Society of Orphan Diseases Irina Myasnikova notes that graduates of the foundation and adults can still apply for life-saving therapy only if they have a disability group, and preferably a second one.
— At the same time, children leave the fund compensated, they do not have group II disability," she told Izvestia. — This means that in adulthood, therapy becomes unavailable to patients and the long-term efforts of the state, in fact, turn out to be in vain. Today, adult patients are very often forced to seek therapy through the courts.
She notes that the patient community has repeatedly appealed to the authorities in order to make therapy available to orphan adult patients without reference to the status of a disabled person, as is the case, for example, under the program "14 high-cost nosologies."
The charity foundation "Live Now" deals with amyotrophic lateral sclerosis, which is severely affected by adults. Its director Natalia Lugovaya emphasizes that such patients have significant difficulties in acquiring foreign unregistered drugs.
— For example, Tophersen has now appeared, which gives people great hope that they will actually be able to slow down the disease, but it is not available to families due to its very high cost. And we are considering options like buying an unregistered drug through government procurement for our patients," she told Izvestia.
According to her, the cost of the drug reaches 30-40 million per year, and it is very difficult for regional authorities to find such large sums even for several patients in their region.
Natalia Lugovaya notes that contact with foreign companies is not always successful either — the processes are very slow, not all of them are ready to respond, and Topersen manufacturers, in particular, are not ready to go to Russia yet.
The Sunflower Foundation also draws attention to the need to optimize the mechanism of interaction with the regions, ensure inventory, as well as expand the list of trade names of drugs and the range of suppliers to prevent logistical problems.
There are also not very many drugs yet: just over 400, although there are more than 7 thousand orphan diseases, says Irina Myasnikova. Nevertheless, the number of medicines is constantly increasing, including thanks to Russian scientists.
What to expect from Russian scientists
The Circle of Goodness Foundation emphasized that the creation of a financial instrument to provide children with expensive therapy has become an incentive, among other things, for the development of domestic drugs for severe and rare hereditary diseases.
— For example, last year the domestic nusinersen was registered, one of the pathogenetic drugs for spinal muscular atrophy, the press service of the foundation reported. — Russian companies are reportedly developing other drugs, both analogues and original medicines, which are necessary for the treatment of orphan diseases.
Anastasia Zonina said that our scientists are currently working on a drug similar to the American one, but for more mutations. And before that, we managed to create an analogue of the foreign mesh bandage Mepitel. Russian Rupitel armbands are already being actively purchased.
— By the end of 2025, it is planned to replace the most difficult—to-manufacture silicone-coated sponge bandages Mepilex Lite and Mepilex Transfer," she shared.
Olga Gremyakova said that now the Russian company Generium is also approaching the stage of clinical research of Russian developments of gene replacement therapy for Duchenne myodystrophy.
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