OBJECTIVES :

MLD is an ultra-rare neurodegenerative disease leading to motor and cognitive decline and premature death. Prior to the introduction of atidarsagene autotemcel (arsa-cel), treatment of MLD consisted only of best supportive care. When MLD patients are treated pre-symptomatically, arsa-cel has the potential to prevent or slow disease progression and enable children to have an improved quality of life. In the absence of newborn screening (NBS), pre-symptomatic patients are typically identified because of an older affected sibling; and due to the rapid irreversible deteriorating nature of MLD, the therapeutic window for treatment is limited. Early detection of MLD through NBS allows for pre-symptomatic diagnosis and intervention. The aim of this study was to determine the cost-effectiveness of NBS for MLD vs. no screening from the UK NHS perspective.

METHODS :

A decision analytic framework was developed with a no screening arm vs. a screening arm. The population was based on the number of live births in England and Wales. The epidemiology of MLD and the probabilities used to inform the nodes were derived from clinical experts from the three major MLD referral hospitals in the UK. Model inputs for test characteristics and screening specificity were from published literature. Costs and utilities used to inform long-term outcomes were from several sources including NHS reference costs, arsa-cel clinical trial data, a vignette study based on TTO valuations of MLD health state descriptions by members of the UK general public, and the UK EQ-5D-5L value set.

RESULTS :

Based on 640,370 live births, screening for MLD resulted in an incremental QALY gain of circa 790 QALYs vs. no screening (at a discount rate of 1.5%). The corresponding ICER was below £30,000/QALY gained.

CONCLUSIONS :

NBS for MLD is a cost-effective use of NHS resources, driven by the substantive QALY gain for MLD patients treated pre-symptomatically.