Аннотация
Orphan (rare) diseases represent one of the most pressing challenges in contemporary public health. Access to orphan medicinal products remains critically unequal: high-income nations with dedicated regulatory frameworks achieve pharmaceutical coverage of 65-80% of affected patients, while the majority of low- and middle-income countries provide access to fewer than 10-15% of regulator-approved orphan drugs. Objective of the review: to analyze the drug coverage system for patients with orphan diseases in the Republic of Kazakhstan, identify key systemic issues, and identify areas for improvement based on international experience. Methods. This review is based on a regulatory, systemic, and comparative analysis of more than 7 regulatory legal acts of the Republic of Kazakhstan, as well as secondary data from the annual reports of the Unified Distributor, SK-Pharmacia LLP, for 2020-2025. 27 scientific manuscripts were also analyzed. Results. The Republic of Kazakhstan presents a particularly important case for analysis: despite a functioning regulatory framework, pharmaceutical coverage reaches only 35-37% of registered patients, and the national list of orphan medicinal products covers merely 14.8% of drugs approved by the United States regulator and 11.6% of those approved by the European regulator. The country lacks a unified national orphan disease program, adapted health technology assessment procedures for orphan medicinal products, a functioning centralized patient registry, and marketing exclusivity mechanisms for manufacturers — all standard elements of effective orphan drug policies in comparator countries. Conclusions. The gap between the existing normative-legal framework and actual patient coverage, combined with the absence of a comprehensive national strategy, determines the scientific and practical relevance of a systematic analysis of the pharmaceutical provision system for patients with orphan diseases in Kazakhstan. Keywords: rare diseases, orphan drugs, access to health care, health technology assessment, Kazakhstan, drug formularies, reimbursement mechanisms, health policy, drug costs.