Cost-Effectiveness of Orphan Medicines for the Management of Spinal Muscular Atrophy: Thinking Outside the Box

OBJECTIVES: Most of the medicines for rare diseases, due to their high costs, pose incremental cost-effectiveness ratio (ICER) values far beyond the conventional cost-effectiveness threshold for reimbursement. The hypothesis is that we have to think outside the box when it comes to cost-effectiveness of orphan medicines in general, and for the management of spinal muscular atrophy (SMA) as an specific example.

METHODS: Pharmacoeconomic analyses of currently registered disease-modifying therapies for the management of SMA were considered for inclusion. PubMed/Medline, Global Health, and Embase were systematically and separately searched. Hand-searching was carried out on research articles, and narrative-type articles related to cost-effectiveness thresholds for reimbursement of orphan medicines in general.

RESULTS: Through our systematic review of economic evaluations of orphan medicines for SMA (which included eight CEAs and six CUAs), as well as raising concerns about the accessibility of orphan medicines in general, there is a high need for pharmacoeconomic analyses also in cases when the cost of treatment is very high and the ICER values exceed the usual, acceptable values for standard therapy. Specific willingness to pay thresholds for orphan medicines are of the utmost importance, to allow patients with SMA to have access to safe and effective treatments. The present topic is important since with such economic evaluations, we get the possibility to compare the value of medications in the same indication; however, we should emphasize that in the interpretation of data and in making decisions about the use of medicines, the impact of new knowledge should be considered.

CONCLUSIONS: In the process of decision-making regarding orphan medicines for SMA, pharmacoeconomics is just one domain of health technology assessment evaluation. For orphan medicines other domains are also notably important; thus, policy makers should not only take the pharmacoeconomic aspect into consideration, but the safety, efficacy, social and ethical aspects, and QoL as well.