Orphan (rare) diseases

The criteria for the rarity of diseases in different countries differ. Thus, in the United States, an ailment occurring in 7 out of 10 thousand people falls into the category of orphan, in Europe - in 5 out of 10 thousand people, in Japan - in 4 out of 10 thousand people, and only in Russia and Australia - in 1 out of 10 thousand people (data for 2018).

Orphan diseases

• Fabry disease - a rare genetic disease that affects the kidneys, leads to heart failure, heart attacks and strokes.

Orphan diseases in Russia

2023:57 subjects allocated 12.1 billion rubles (+ 40%) for medicines for patients with rare diseases

In 2023, 57 constituent entities of Russia were allocated for the provision of medicines for patients with rare diseases, not included in the targeted programs of state guarantees of the federal and regional levels 12.1 billion rubles, which is 40% more than in 2022. Due to these drugs, 10,076 adult patients were provided with drug therapy in 2023, which is 16% more than in 2022, said analyst, head of the project office "Rare (orphan) diseases "FGBNU" National Research Institute of Public Health named after N.A. Semashko, "member of the expert council of the State Duma of the Russian Federation for health protection for rare (orphan) diseases, Elena Yurievna Shukan.

2018: The emergence of a list of orphan diseases whose treatment is paid for by the state

According to various estimates, in 2018 in Russia from 15 thousand to 1.5 million people suffer from orphan diseases.

By 2018 in Russia:

• a list of orphan diseases has appeared, the treatment of which is provided at the expense of the state;
• customs fees for orphan drugs imported for personal use have been eliminated;
• simplified the procedure for importing unregistered drugs from abroad;
• some orphan generic drugs developed and manufactured by Russian pharmaceutical companies are registered.

2012: Emergence of the concept of orphan disease in regulatory documents

In Russia, the concept of orphan disease and orphan drug appeared in regulatory and regulatory documents only in 2012.

Orphan Drugs Market

Every year, pharmaceutical companies release more than 100 new drugs for the therapy of orphan diseases. According to GARP estimates, the volume of the orphan drug market in 2018 to 2022 will grow by an average of 11% per year and by 2023 will reach $245 billion. For comparison: according to Evalute Pharma forecasts, by 2022 the market for anticancer drugs will not exceed $190 billion. In other words, the costs of treating rare nosologies could exceed the market capacity of drugs against one of the most common diseases by 26%.

Such rapid growth of the orphan drugs market is due to two main factors. Firstly, the number of both orphan diseases themselves and the frequency of their diagnosis are constantly increasing, which is facilitated by new progressive diagnostic methods. Secondly, pharmaceutical companies are actively conducting research and developing new original and generic drugs for the treatment of rare diseases.

The main problem of providing therapy to patients with orphan diseases is the high cost of drugs. According to the Ministry of Health, in Russia a monthly course of therapy for orphan diseases costs from 100 thousand to several million rubles. For example, an annual course of treatment for a patient with hemophilia in 2012 cost about 1 million rubles, a total of 7.7 billion rubles were purchased, thus, about 8 thousand people received therapy.

Already in 2016, according to Roszdravnadzor, 12,142 patients with hemophilia were registered, respectively, the burden on the budget also increased. The annual course of therapy for cystic fibrosis sufferers is estimated at an amount of 1.3 million rubles or more. In total, in 2016, 3564 patients were diagnosed with cystic fibrosis, an inherited disease caused by a mutation of the transmembrane regulator gene. The provision of drugs to patients with these diseases is carried out at the expense of regional budgets, which is one of the most acute and discussed issues, since up to 30% of patients do not receive therapy due to underfunding in a number of regions.

The high cost of orphan drugs is not only a Russian problem. The problem of low availability of expensive therapy is equally acute USA for both countries. European Union Belgian scientists in the Orphanet Journal of Rare Diseases in 2014 published a study that shows that the median cost of orphan drugs is 13.8 times higher than the price of drugs that do not have orphan status. The researchers suggested that the inclusion of the drug in the list of orphans could affect its cost.

QuintilesIMS for 2017 predicts that the end of patent protection of a number of orphan drugs over the next 5 years will save the United States $140.4 billion.

"Sometimes it seems that an information war has been declared in Russia for Russian reproduced drugs, so often the idea of ​ ​ the irreplaceability of original medicines is promoted in publications," said Alexander Malin, General Director of the pharmaceutical company Nativa. - At the same time, we constantly read in the Western press about the practice of using generics in developed countries, allowing to ensure the continuity of therapy to American and European patients for chronic diseases. It must finally be recognized that achieving a reasonable cost of this category of drugs is an urgent problem and the only way to reduce its severity is healthy competition from manufacturers of original and reproduced drugs. "

International Day of Orphan Diseases

February 29 - International Day of Orphan Diseases. The day is chosen in such a way as to emphasize the rarity of orphan diseases in the human population through the uniqueness of the number of days in the February leap year.