Problems of providing medical care to patients with orphan diseases in the Russian Federation.

Over the period 2021–2024, the situation with orphan diseases in the Russian Federation has changed: patients under the age of 19, without disability, with a disease, and in need of a drug and/or medical device provided by the Circle of Good Foundation receive it at the expense of the foundation; the prevention program (neonatal screening) has expanded from 5 up to 36 diseases. According to Russian researchers and heads of executive authorities of the constituent entities of the Russian Federation, care for patients with orphan diseases does not correspond to the complexity: there is no registration of orphan diseases; regulations on routing and transferring patients from the pediatric to adult network have not been developed; conditions are not created to increase the availability of genetic tests in the regions; dental care is not available for patients with orphan diseases; mechanisms for providing specialized medical nutrition products and technical means of rehabilitation have not been developed.; It is necessary to develop and implement programs of professional knowledge, skills and abilities of doctors on orphan diseases; to raise public awareness of the problems of orphan diseases. This determined the relevance of the present study. The purpose of the study: to establish, on the basis of a sociological survey, the main problematic issues of the organization of medical care for patients with orphan diseases in various regions of the Russian Federation according to a survey of the executive authorities of the subject of the Russian Federation in the field of health protection and parents of patients. Materials and methods. As part of this work, a survey was conducted on topical issues of organizing medical care for patients with rare diseases. The analysis of questionnaires received from 306 parents of patients and 71 executive authorities of the constituent entity of the Russian Federation in the field of health protection was carried out. The processing of materials and calculations were carried out using the MS Office Excel 2019 spreadsheet program. Results. The results of the survey of parents allow us to attribute the following problems of providing medical care to patients with unknown diseases to the highest priorities: lack of criteria for the cancellation of pathogenetic therapy (expensive); transfer of a medicinal product (LP) between regions; lack of a single pathogenetic drug provided by the Circle of Goodness Foundation; lack of a mechanism for including nosology in the list of rare diseases; limited range of orphan lps with the impossibility of synonymous replacement; the need to create statistical reporting forms. When analyzing the problems of organizing medical care for patients with rare diseases, according to the executive authorities of the constituent entity of the Russian Federation in the field of health protection, the most urgent problem is the need to purchase additional drugs at the regional expense for patients of federal programs – 63.4% of all responses. Problems requiring additional analysis include the following: orphan drugs are not available due to their high cost.; drug provision for patients with rare diseases who are not included in preferential programs at the federal and regional levels is often carried out by court order; the absence of a clinical statistical group (KSG) for the administration of a drug in a hospital. Conclusions. Over the period 2021–2024, the situation with orphan diseases in the Russian Federation has changed: the neonatal screening prevention program has expanded and it has become possible to provide patients up to the age of 19 with medicines at the expense of the Circle of Goodness Foundation. The structure of the problems of providing medical care to patients has not lost its relevance, the dominant ones remain: provision of pathogenetic therapy (medicines and specialized food products); financing; development of regulatory documents on patient routing, continuity between organizations and the transfer of patients from a children’s to an adult network; information assistance to doctors and patients (creation of registers); education of medical personnel; public awareness. The data obtained as a result of the study made it possible to identify priority areas necessary to create a unified system of medical care and social support for children with orphan diseases, as well as formulate applications for its modernization for various levels of government.