Orphan diseases: how the state creates a system for the detection and treatment of rare diseases – Views

Recently, the Verkhovna Rada’s Committee on the Health of the Nation discussed the appeal of public organizations that support orphan patients. We are on the way to the state being able to provide every patient with orphan diseases with medicines. Therefore, it is important to emphasize our achievements and identify problematic issues that need to be worked on.

Treatment of rare diseases

Orphan diseases are congenital diseases that occur due to genetic failures or lack of certain enzymes, which leads to metabolic disorders in the body.

Such diseases are extremely rare – no more than one case per 2,000 people. In general, about 8,000 rare diseases are known, of which several hundred are treated. Most often, such patients need constant expensive treatment, special nutrition.

The most effective way is to detect the disease at birth and start treatment before the inevitable changes occur in the body.

The main problem in the treatment of such patients is the high cost of medical drugs. For example, Spinraza for patients with SMA (spinal muscular atrophy) is considered one of the most expensive drugs in the world. One injection costs about $100,000.

Another problematic issue is that manufacturers are not interested in selling such a drug for a small number of patients. If there are 10 children with a rare disease in the country, then the price of medicine will be high.

In the world, the mechanism of managed access contracts is used to reduce the cost of drugs. It allows you to conduct direct negotiations with manufacturers of innovative drugs and, by concluding a conference agreement, buy them much cheaper than the market price.

2019 year

Five years ago, when Ukrainians elected a new convocation of the Verkhovna Rada, we saw that the state did not provide treatment for patients with rare diseases. All patients with such diseases were not even counted.

Parents, for example, of a child with SMA had to announce a fundraiser or contact charitable organizations. Some parents with orphaned children left for EU countries, where the treatment is paid for by the state.

Billions were needed to purchase medicines. In the budget for 2018, 687 million UAH were allocated for the purchase of medicines, in 2019 – 995 million UAH, in 2020 – more than 1 billion UAH, for 2021 – 1.7 billion UAH.

Every year, our Committee proposed a significant increase in expenditures for the purchase of medicines. For example, in the budget for 2022, UAH 591 million was allocated for the purchase of drugs for the treatment of orphans. Our Committee proposed to the Ministry of Finance to increase expenditures by UAH 7 billion. Such a huge amount was not found in the budget.

But even significant funds for drugs do not guarantee quality treatment of patients if the treatment system does not work in the country. Therefore, back in 2019, at the request of Volodymyr Zelenskyi, who was also regularly contacted by the parents of orphaned children, we began to implement such a system.

2023 year

To create the system, we took four important steps.

The first – the Verkhovna Rada adopted the law of our Committee on Managed Access Agreements. The DCD mechanism, as it happens in the EU countries, allows you to purchase drugs through direct contracts with manufacturers much cheaper. So far, 11 drugs worth UAH 670 million have been purchased, including, for the first time since independence, drugs against SMA.

The second is the launch of the extended neonatal screening project. To this end, the Verkhovna Rada adopted the relevant law, and UAH 300 million was allocated from the presidential fund for the purchase of equipment and reagents for laboratories.

We expanded newborn screening from 4 to 21 diseases. This makes it possible to detect the disease in time and start treatment before inevitable changes have started in the body. To date, more than 150,000 children have undergone neonatal screening, more than 190 newborns have been diagnosed with rare diseases.

The third – the government approved the Concept of development of the system of providing medical care to orphan patients until 2026. According to this document, the Ministry of Health is working on updating treatment protocols for orphan patients, creating a network of reference centers on orphan diseases, and approving a national classifier of rare diseases.

Fourth, the updated Center for Orphan Diseases was recently opened at the “Okhmatdyt” hospital. Now the specialists of “Okhmatdyt” will be able to receive patients with any hereditary disease in comfortable conditions, on modern medical equipment.

Even in the conditions of a full-scale war, the President’s team managed to allocate UAH 2.3 billion to the budget for the purchase of medicines for patients with rare diseases. In 2022-2023, the National Agency “Medical Procurement of Ukraine” concluded DCD contracts for the purchase of innovative drugs for the following diseases: SMA, mucopolysaccharidoses, Gaucher’s disease, Pompe’s disease, primary immunodeficiencies, hemophilia.

Problematic questions

Creating a system for treating orphans is a complex process. Therefore, several times a year, the Committee gathers representatives of the Ministry of Health, the National Health Service, the Ministry of Health, patient and public organizations to learn about the issues on which we need to work together.

At the last meeting of the Committee, they talked about the problems. Among them are the need to accelerate the assessment of medical technologies (negotiations with the manufacturer can begin only after the conclusion of the OMT), expanding the list of diseases for the treatment of which drugs are purchased by the state (the father of a child with hypofibrinogenemia, for which drugs are not purchased, was present at the Committee meeting), implementation of the Concept development of the system of providing medical care to orphan patients until 2026 (due to the war, the deadlines have been violated) and others.

Also, in the near future, the parliament should consider a draft law that will allow procurement under the DCD this year. According to the current legal framework, procurement ended on December 31, 2023. We have the preliminary agreement of the heads of all parliamentary factions that they are ready to support the draft law.

As you can see, on the one hand, the system is starting to work, some patients are already receiving free treatment, on the other hand, we are only halfway to ensuring that every orphan patient receives free treatment. Therefore, we have planned a series of meetings with the participation of patient organizations, where we will work out ways to solve problematic issues.

Mykhailo Radutskyihead of the Committee of the Verkhovna Rada of Ukraine on issues of national health, medical care and medical insurance

Publications in the “View” section are not editorial articles and reflect exclusively the author’s point of view.