OBJECTIVES: Stargardt disease (SD) is a rare genetic ocular disease with no treatment currently available. In anticipation of future therapies becoming available, it is important to understand the economic burden of disease. Therefore, we conducted a systematic literature review (SLR) on the healthcare resource utilisation (HCRU), and direct/indirect costs of SD alongside a clinical trial database search to identify upcoming treatments.

METHODS: An SLR was conducted in Embase to identify data relating to HCRU and costs in SD. Eligible studies were published between January 2008 and March 2023 and presented data on HCRU or direct/indirect costs related to SD. Clinicaltrials.gov was searched to identify potential future treatments for SD. Trials of interest were Phase 2 or Phase 3 with a status of completed, active not recruiting, or recruiting.

RESULTS: 16 studies were retrieved from the search with 3 of these studies meeting inclusion criteria. One study (US, 2010-2014) identified the insurance coverage cost per year of SD to be $105.58. The remaining 2 studies focused on diagnostic costs; 1 study described the cost for a new resequencing chip (Europe), the other identified costs of the diagnostic test as the main reason why patients did not undergo testing (US). No indirect cost data were identified. 8 trials met inclusion criteria: 3 completed, 1 active not recruiting, 3 recruiting, 1 enrolling by invitation. Seven trials investigated 5 drug interventions (emixustat, tinlarebant, STG-001, avacincaptad pegol, ALK-001) with the eighth trial investigating a gene therapy (GT) (vMCO-010).

CONCLUSIONS: The current healthcare costs associated with SD are not well established. With uncertainty around the current economic burden of SD, it will be difficult to determine the economic impact of new treatment options when making access decisions. Future analysis of analogues from other ocular degeneration disorders may prove useful in determining the current economic burden of SD.