High-cost drugs for rare diseases: their expenditure and value based on a regional area-based study

Abstract

Background: in the field of rare diseases (RDs) most of the European studies on budget impact analysis of drugs that have been conducted often lay on theoretical assumptions and focus only on Orphan drugs (ODs). Objectives: we aimed to estimate the budget impact of specific drugs for non-oncological RDs, both ODs and non-ODs, using real-world data about patients residing in Veneto Region (Italy) and to describe its expenditure structure and dynamics. Methods: a population-based multi-source observational study was conducted using data from Regional administrative databases; an ad-hoc drugs’ list specific for RDs including both ODs and non-ODs and classifying them by ATC codes has been created. Results: In 2019, the total expenditure for drugs specific for RDs was EUR 97.2 million (6.6% of the total Regional budget). The RD drug list included 58 ATC codes, of which 15 ATC had an annual budget impact over EUR 1 million (“blockbuster drugs”). The most expensive treatment was a non-OD drug (Coagulation factor VIII). The two most represented therapeutical areas were the metabolic and the hematological ones. Conclusions: Cost analyses on RD high-cost drugs expenditure should consider any specific RD drug, not only ODs. Expenditure dynamics for RD drugs are peculiar showing “blockbuster drugs”. Some therapeutical areas seem to be lacking in the drug research field.

Variables affecting new drug prices in South Korea’s pricing system

“…Frontiers in Pharmacology frontiersin.org overpriced (Manea et al, 2023). Our study also revealed that drugs for severe diseases and those without alternatives had higher annual treatment costs and a higher price ratio to the A7 average adjusted price.…”

“…Treatments for rare diseases are concentrated around metabolic and hematological diseases, raising concerns about other rare diseases that are therapeutically neglected. Drugs for diseases lacking adequate treatment options with a high societal demand for the same tend to be overpriced ( Manea et al, 2023 ). Our study also revealed that drugs for severe diseases and those without alternatives had higher annual treatment costs and a higher price ratio to the A7 average adjusted price.…”

“…A majority of the studies on the factors affecting the pricing of new drugs focused on medications used for specific disease groups, such as orphan and oncology drugs. In Italy, studies have analyzed the annual treatment cost or budget impact of orphan and oncology drugs ( Jommi et al, 2021 ; Russo et al, 2021 ; Villa et al, 2022 ; Manea et al, 2023 ). Additionally, correlations between the treatment costs of orphan drugs and the prevalence and incidence of the respective diseases were also examined.…”

Exploring the Pathophysiologic Cascade Leading to Osteoclastogenic Activation in Gaucher Disease Monocytes Generated via CRISPR/Cas9 Technology

“…Bone pain of varying intensity, fractures, and progressive joint collapses may cause impaired mobility and increased morbidity [ 5 ]. To date, the management of bone pathology remains challenging even after the introduction of specific disease-modifying therapies such as enzyme replacement therapy (ERT: imiglucerase, velaglucerase alfa, and taliglucerase) or substrate reduction therapy (SRT: eliglustat and miglustat) [ 6 ], which have a high economic impact on the health system [ 7 , 8 , 9 ].…”