RESUMO
The study was carried out to analyze detection of rare diseases that are not included into listings of rare (orphan) diseases to be treated at the expense of budget resources of the Russian Federation Russian Federation (hereinafter referred as rare diseases out of reimbursement). The analysis of detection of patients with rare diseases out of reimbursement in Russian Federation was carried out. The information was collected and summarized on the basis of open sources by the way of formalized personal request to the heads of patient and public organizations providing care of patients with rare diseases out of reimbursement. It is established that in the Russian Federation (85 subjects) reside patients with more than 250 forms and groups of rare diseases and only 28 out of them are included into the Federal registries of patients. Actually, there are more than 8 000 nosologic forms of rare diseases that are known thus far. The monitoring permitted to collect data concerning 30 particular nosological forms and groups of rare diseases out of reimbursement. Among them, 23 out of 30 analyzed pathologies have genetic nature. And only for 24 out of 30 diseases the registration of patients is applied. It is necessary to organize modern system of registration of patients within the framework of the Federal registry that includes full and actual data about patients, course of disease, therapeutic interventions that will permit to determine prevalence, disability, mortality, lethality, necessary medicinal maintenance and also to establish spectrum of diseases that are to be included into drug reimbursement programs.
