Orphan patients in need of systemic solutions

But in recent decades, much has changed – pharmaceutical companies started to develop drugs for this category of patients, and today annually several dozens of orphan drugs. Many countries began to create special programs for the treatment of orphan patients, as they require not only expensive medicines, but also a support system. I have created two programs in our country. The program “7 high-cost nosologies” which includes hemophilia, cystic fibrosis, multiple sclerosis, Gaucher’s syndrome, pituitary dwarfism, and other disorders, since 2008, patients began to receive expensive drugs at the expense of the Federal budget.

With adequate treatment, the majority of orphan patients for whom therapy is available and affordable, leading a normal life – they have the ability to work, study, create families and give birth to healthy children. An example is a serious illness such as hemophilia – a hereditary disease in which the body lacks the clotting factors. With this disease are born one boy in every 5,000. Without treatment, they are already in the child, become disabled, die early.

– the “7 WNV” gave a great effect, hemophiliacs began to receive necessary medical care, says the co-chair of the all-Russian Union of patient associations Yury Zhulev. – Number of hospitalizations have declined on average 4 times, the patients can live a full life – go to school, to work, decreased disability, and the ambulance calls. In recent years, new breakthrough drugs that are injected not intravenously, and subcutaneously and have a prolonged effect, they are administered once a week or even a month. They are not comparable to the comfort and efficiency of treatment. And we are glad that these drugs are registered in our country and included in the list of programs for WNV. This is a big step forward. But it is necessary to change the order of procurement of drugs on behalf of patients – to buy no pon minimum price and on the principles of maximum efficiency and individual tolerance.

the second program – a “life-threatening and chronic progressive rare (orphan) disease” – was included another 24 nosology, but also to provide these patients had regions. Purchases of some drugs included in the program patients are quite capable of regional budgets, while others required a huge investment. And regional authorities were forced to solve unsolvable dilemma is to help a sick orphan or a hundred or even a thousand regular beneficiaries. As a result, many orphan patients refused, and they had to appeal to the courts. But such a path does not always lead to the result. The problem has received a wide public resonance, have responded and legislators.

– In recent years, the Federation Council has consistently and successfully solves the issue of transfer of the procurement of drugs for patients with orphan diseases at the Federal level, – has told “RG” the first Deputy Chairman of Committee on social policy of the Federation Council Valery Ryazansky. In 2018, we passed the Federal law (the initiator was the Chairman of the Federation Council Valentina Matvienko), which in 2019 have introduced centralized procurement of drugs for the treatment of five more orphan diseases (hemolytic-uremic syndrome, juvenile arthritis with systemic beginning and mucopolysaccharidosis I, II and VI types, – Ed.). Given the positive socio-economic effect from its adoption, the members of the Federation Council has drafted another law, which from this year will translate to the Federal level two orphan diseases. The Federation Council has set a goal to reduce this rate and to make the transfer in several steps remaining 17 orphan diseases at the Federal level, starting in 2021, and based on the Federal budget. In addition, we plan to develop several legislative initiatives that will allow you to quickly and legitimately translatess nosology from the list of orphan diseases, Ministry of health of the Russian Federation, which contains 258 items in the list, approved in 2012 by the government and including today 17 items. Now the legislation of the Russian Federation such procedure.

much has been Done, but the medical care of orphan patients is still not systematic, and holistic policy in relation to orphan diseases in our country was not formed, experts say. The main problem is the purchase of necessary medicines, without the participation of the Federal budget is impossible, need centralization, I believe patients and doctors. But there are a number of other outstanding issues.

We fell behind in the laboratory diagnosis of genetic diseases, – says head of laboratory of hereditary metabolic diseases of Medical genetics research center. Acad. Bochkova, doctor of medical Sciences Ekaterina Zakharova. Centers, which is able to identify such disorders in orphan diseases, there are only in Moscow, St.-Petersburg, Ufa, Tomsk and several other major cities. In fact, the country needs to recreate the medical-genetic service, to equip laboratories with modern equipment. It allows you to quickly and accurately identify violations, to establish an accurate diagnosis. But it can literally be counted on the fingers. There are gaps in the legislation and regulations that do not allow to identify genetic disorders and orphan patients to provide the necessary assistance. For example, laboratories are prohibited from purchasing have not been registered in our country, reagents, and without them to conduct research often impossible. Many patients require undocumented in our country, drugs that are also available. We can identify the child has a rare violation, but it can save only one drug, even sometimes inexpensive, but it is not there. Therefore, to solve the problem of orphan patients must be integrated, systemic, not individual, let the salese and good initiatives.

Complicates the organization of medical care of orphan patients and the fact that our country has not formulated criteria not established a regulatory framework that should govern the status of orphan diseases in the framework of existing state programs. To solve all these issues, according to patients and doctors, could create a Federal program.

– the Creation of the Federal program “Orphan diseases” is an important and excellent trend, – says Valery Ryazan. – It will allow a comprehensive approach to the identification, prevention and treatment of these diseases. Will allow to consolidate efforts of all branches of government, medical and the medical community, business. Of course, the need to improve the regulatory framework, to develop regulations for revision of the list of orphan diseases and high-cost nosologies program. This set of initiatives is already in elaboration our Committee.

Many experts also believe that lower expenditure on the purchase of expensive orphan drugs would help the systems implementation of risk-sharing and cost-sharing, under which drug manufacturers receive payment for them only in the case of the impact of treatment. In the same vein, in many countries use the mechanism of direct negotiations and the conclusion of long-term contracts with pharmaceutical manufacturers.

an Integrated approach to the organization of medical care of orphan patients would ensure its maximum effectiveness and to solve one of the most acute social and health problems. Today and tomorrow at the II all-Russian orphan forum, representatives of public patient organizations, doctors, scientists discuss all these issues and formulate their proposals to create a comprehensive system of support to people who should not feel orphans in her country.