Analysts of the All-Russian Union of Patients and the All-Russian Society of Orphan Diseases conducted a survey among 904 patients from 76 regions of Russia in January-February 2022. The main problem of people with orphan diseases, according to analysts, is the unavailability of life-saving medicines.
The problem was reported by 84% of patients with cystic fibrosis, 37% with hemophilia, 60% with Duchenne disease, and 53% with phenylketonuria. More than half of respondents with rare diagnoses in 2021 faced the unavailability of preferential specialized drugs (59.4%) and preferential medicines for concomitant diseases (56%).
“There are several reasons for the unavailability of medicines, including insufficient funding for state support programs, the lack of registration of some effective drugs in Russia, and delays in accepting applications for medicines by regional health departments,” the Izvestia quotes expert assessments.
Treatment of orphan diseases is only possible with the assistance of the government due to the high costs of drugs and their limited availability, according to all experts interviewed by the publication. Since 2008, Russia has been operating a state program of Cost-Intensive Nosologies (VZN), which in 2020 was expanded from the initial seven to fourteen diseases. The program caters for patients with cystic fibrosis, malignant neoplasms, multiple sclerosis, Gaucher disease, and other diseases that cannot be completely cured.
The Cost-Intensive Nosologies program is currently experiencing problems with funding, as Sergey Kutsev, Director of the Academician Bochkov Medical and Genetic Research Center, chief freelance specialist in medical genetics of the Ministry of Health of Russia said in an interview with the publication.
“The reason is that the number of patients in need is increasing but the amount of funds allocated remains the same. This does not mean that all those in need do not receive medicines, but the problem exists,” he added.
In addition to insufficient funding, another reason for the unavailability of medicines is often the fact that the necessary drugs are not registered in Russia. For example, patients with cystic fibrosis are currently waiting for the registration of Trikafta, a drug which has shown its effectiveness against about 177 mutations and can help 90% of sufferers of this disease.