ANALYSIS OF CURRENT APPROACHES TO THE ASSESSMENT OF ORPHAN MEDICAL TECHNOLOGIES: THE CASE OF SPINAL MUSCULAR ATROPHY
DOI:
https://doi.org/10.11603/2312-0967.2026.2.16202Keywords:
health technology assessment, rare (orphan) diseases, spinal muscular atrophy, nusinersen, risdiplam, onasemnogene abeparvovec, risk-sharing agreementsAbstract
Objective: systemically analyze the characteristics of health technology assessment (HTA) for orphan diseases, identify key methodological and organizational challenges, and propose directions for improving the HTA process based on the example of spinal muscular atrophy (SMA).
Materials and methods. We employed systematic and structural-logical analysis, content analysis of Ukraine’s regulatory framework, comparative analysis, and a synthesis of international experience (based on information from leading HTA agencies and international organizations—NICE, HAS, CADTH, EUnetHTA), as well as elements of pharmacoeconomic analysis and case studies regarding medicines for the treatment of SMA (nusinersen, risdiplam, onasemnogene abeparvovec).
Results. It was found that traditional HTA approaches have limited applicability for orphan diseases due to small patient samples, high uncertainty regarding long-term clinical outcomes, and the extraordinary cost of therapy. International models of HTA adaptation were analyzed, including specialized assessment procedures, flexible or elevated incremental cost-effectiveness ratio (ICER) thresholds, as well as managed entry mechanisms through risk-sharing agreements (MEA/RSA). Key systemic barriers in Ukraine were identified: the absence of a specialized HTA track for orphan technologies, uncertainty or absence of ICER thresholds, insufficient development of patient registries, and limited regulatory framework for risk-sharing agreements.
Conclusions. Improving the effectiveness of HTA in Ukraine requires the implementation of a specialized approach to the evaluation of orphan technologies, the development of MEA/RSA mechanisms, the creation of national patient registries, and the application of multi-criteria decision-making methods. This will contribute to more equitable and sustainable access to innovative therapies for patients with rare diseases, as well as to progress toward achieving universal health coverage in the context of the global Sustainable Development Goals.
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