OBJECTIVES: Huntington’s disease (HD) is a rare neurogenerative disease with substantial burden. Future gene therapies (GTx) have the potential to alleviate disease burden requiring the generation of further evidence to inform cost-effectiveness analyses. We conducted a targeted literature review (TLR) to identify estimates of the economic burden of HD.

METHODS: A comprehensive search of studies assessing HD costs, health resource utilisation (HRU), and burden of illness (BOI) was conducted on Medline, Web of Science, and grey literature (HD congress posters and abstracts). Studies were screened against a pre-defined inclusion criteria.

RESULTS: We identified 23 international BOI studies in Australasia, Europe, North and Latin America. A majority (11/23) focused on the healthcare payer (HP) perspective alone, 9/23 studies reported HP alongside societal costs (SC), and 3 studies reported SC alone. HD disease severity stratification was presented in 10/23 studies, with 3 utilising the Total Functional Capacity (TFC) scoring measure, while the remaining 7/10 categorised HD stages “early, mid and advanced” using HRU type (e.g., hospice care exemplified HD advanced stage). Using a standardised currency, HRU and annual costs per patient increased with HD stages. Annualised direct medical costs of HD ranged from $3121.2 to $20,475 for early stage, from $11,808 to $29,733 for moderate stage, and from $22,116 to $66,070 for advanced stage.

CONCLUSIONS: Our TLR results highlighted substantial HD economic costs alongside evidence gaps in the literature. Given the extensive societal HD burden, the 9/23 studies identified presented disparities in information of indirect cost such as productivity loss, and caregiver burden. Moreover, validated HD disease progression measures such as TFC were rarely employed, instead HD progression was categorised by the type of HRU utilised. Such categorisation may not provide an accurate reflection of HD health state residency. Future BOI studies are needed to provide comprehensive evidence for HD cost-effectiveness analyses.