What free medicines are available for people with rare diseases

Pompe, mucopolysaccharides, Fabry, Gaucher... Have you ever heard these words? You probably think that the second word is unnecessary because it is next to the names.

In fact, no, because these are all names of diseases. They have one thing in common: they are extremely rare (one case per 2000 people). That is why they are commonly known as rare (orphan) diseases.

Today, on World Rare Disease Day, we will tell you in more detail what these diseases are, what free treatment for these diseases is guaranteed by the state, and how and where to get it.

Kateryna Nekrasova, Deputy Director General for Customer Experience Management and International Cooperation, Medical Procurement of Ukraine

The nature of rare diseases

Orphan diseases are congenital or acquired rare diseases, 80% of which are genetically determined. That is, they occur due to genetic disorders or lack of certain enzymes, which leads to metabolic disorders in the body. For example, mucopolysaccharidoses are caused by a lack of enzymes responsible for removing toxins and toxins from the body, without which the body poisons itself...

There are up to 8 thousand rare diseases (!) known in the world, while treatment methods have been found for approximately several hundred. Most of them are diagnosed at an early age. People suffering from such rare diseases usually need expensive, continuous, and lifelong treatment that will allow them to lead a full life. Without it, the disease can lead to disability and even death.

What orphan drugs does the state procure?

For some time, Ukrainians have been receiving expensive orphan drugs through international, humanitarian programs or charitable foundations. However, in recent years, a lot has been done at the state level for people with rare diseases.

Since 2020, Ukraine has been centrally procuring medicines for people with rare diseases through the national agency Medical Procurement of Ukraine. Procurement in some areas began in 2021 and 2022.

In particular, last year, the Ministry of Healthcare of Ukraine procured more than 100 items of medicines in centralized areas for the following diseases

• epidermolysis bullosa
• idiopathic familial dystonia
• primary immunodeficiencies
• pulmonary arterial hypertension
• cystic fibrosis
• nanism (dwarfism)
• juvenile rheumatoid arthritis
• tyrosinemia type 1
• phenylketonuria of atypical form type 2
• hemophilia types A or B or von Willebrand disease

The total amount of purchased drugs amounted to about UAH 1.4 billion.

The MAAs mechanism as a key to innovative treatment

Since 2022, a certain number of orphan drugs have been procured through the mechanism of concluding managed access agreements (MAAs).

Why is this so? Given the small number of patients and, accordingly, the lack of mass production of innovative medicines, they are expensive. Therefore, there is a great solution in the world not to leave such patients alone with their disease - the mechanism of MAAs. In particular, it is used in Italy, France, the Netherlands, Belgium, Sweden, Denmark, Finland, Australia, Lithuania, etc.

Its essence lies in the fact that through direct negotiations with manufacturers of original medicines, the state enters into exclusive contracts with them. Due to the confidentiality of the price and quantity of the medicinal product, manufacturers offer prices much lower than market prices.

In particular, in 2022-2023, the Ministry of Health concluded MAAs for the procurement of innovative medicines under MAAs for the following rare diseases

• mucopolysaccharidoses
• Gaucher disease
• spinal muscular atrophy (SMA)
• Pompe disease
• primary immunodeficiencies
• hemophilia

Such agreements are concluded for three years and allow patients to be sure that they will receive the necessary treatment without interruption.

The sooner it is started, the better. To this end, all newborns undergo mandatory screenings from infancy to detect 21 rare diseases. For example, cystic fibrosis, SMA, tyrosinemia, phenylketonuria, immunodeficiencies, etc.

To make such advanced diagnostics possible, the Ministry of Healthcare of Ukraine last year equipped laboratories with innovative equipment worth more than UAH 300 million.

How and where to get free medicines

We procure medicines exclusively for each registered patient based on the needs collected from the regions. Every year, this data is updated and verified, taking into account the number of newly registered cases.

Then we procure these drugs and ship them directly to hospitals, where patients can receive them free of charge. But before that, they need to undergo all the screening and genetic tests to establish a diagnosis and get a referral from a doctor.

As you can see, people facing rare diseases are not left alone with their illness. Unfortunately, rare diseases are not fully funded by the state. But with a limited budget due to the war, we are doing our best to ensure that everyone is provided with uninterrupted treatment.