The Ministry of Health of the Russian Federation has updated the list of orphan (rare) diseases, adding four new nosologies. The updated list has been published on the official website of the ministry. The list now contains 301 diseases.
In particular, two genetic diseases (congenital dyskeratosis and HNRNPH2-related neurodevelopmental disorder), as well as chronic hypoparathyroidism (a metabolic disorder) and uveal melanoma, were added to the list.
At the same time, idiopathic recurrent pericarditis, a rare heart condition, was excluded from the list. It was replaced with the wording “other forms of acute pericarditis.”
Orphan diseases are rare diagnoses with a prevalence not exceeding 10 cases per 100,000 people. They are characterized by limited treatment options. A total of 21,615 patients with such diseases are registered in Russia.
The average annual cost of therapy for one patient with an orphan disease is 2.76 million rubles, and the total implementation of the draft law could reach 6.5 billion rubles.
Last year, Russian President Vladimir Putin signed a law providing a reserve mechanism for financing the treatment of orphan diseases. The government will be able to allocate interbudgetary transfers to Russian regions that cannot independently manage the funding for treating such diseases.
