Assessment of medical technologies in the formation of government programs to assist patients with rare metabolic diseases

The aim: carrying out an assessment of the technologies of nutritional and pharmacological therapy of phenylketonuria (PKU) to justify a set of measures for the implementation of the government program to support patients with rare diseases (RD). Materials and methods: scientific publications, regulatory acts, treatment protocols, statistical data, epidemiological indicators, results of patient questionnaires, marketing information, data from the electronic procurement system "ProZorro" were used in the research process. The research was conducted using the methodology of health technology assessment (HTA), methods of marketing analysis, questionnaire survey, document analysis, comparison, systematization and generalization of data. Research results. An analysis of the evaluation of modern approaches to the treatment of hereditary rare metabolic disease (PKU) was carried out. According to clinical protocols, the main technology for the treatment of PKU is nutritional therapy - a diet (diet-for-life) with restriction of the use of phenylalanine (Phe) and the use of food products for special medical purposes (Special low protein foods for phenylketonuria - SLPF-PKU). Innovative drugs "Kuvan" and "Palynziq" are recommended in the case of atypical PKU. For RD, specific and innovative cost-effective medical technologies (MT) are usually used, which have insufficient evidence due to limited experience, low availability, and small patient populations. Centralized procurement and managed entry agreements (MEA) make it possible to expand the availability of MT to patients and obtain real data on their safety and effectiveness. Integration into the global information space, participation in international projects, joint clinical assessment (JCA) in accordance with Regulation (EU) 2021/2282 on HTA, cooperation with Orphanet, EURORDIS, other professional and patient organizations are extremely important. The key components of HTA for RD are socio-economic and organizational and legal aspects, in particular the special status of MT, which provides certain preferences. The foreign experience of providing orphan patients (in particular, reimbursement) is summarized. The legal framework for RD is systematized. Based on the results of the analysis of PKU prevalence indicators, modelling and budget impact calculations were carried out, considering that SLPF-PKU products are purchased from local budgets. An analysis of prescriptions, assortment, and prices of SLPF-PKU was carried out using data from the ProZorro procurement system. A survey of 156 patients with PKU made it possible to identify unmet needs and formulate recommendations for expanding the SLPF-PKU food basket. Conclusions: Conducting the HTA made it possible to identify key problems, as well as to justify a set of measures for the development and implementation of the government program to support patients with rare diseases, based on the obtained results