Treatment Patterns and Cost of Care Among Patients With Metachromatic Leukodystrophy (MLD) in the US

OBJECTIVES: MLD is an ultra-rare progressive neurodegenerative disease occurring in approximately 1 in 100,000 newborns. Prior to premature death, the disease is associated with considerable clinical, psychosocial, and economic burden. The objective of this study was to understand treatment patterns, healthcare resource utilization, and costs of care among patients with early-onset MLD (< 7 years) in the US.

METHODS: MLD patients were identified from a large managed care population using Symphony administrative claims data with at least one MLD specific ICD claim between July 2018 to August 2022. The data timeframe for these identified patients spanned from July 2013 to August 2022 to capture patients with complete claim history from birth. Early onset MLD patients were classified into either late infantile (LI) or early juvenile (EJ) MLD based on age of MLD diagnosis. The average total annual cost of care by year of observation and care category were evaluated.

RESULTS: A total of 248 MLD patients were identified, 117 classified as LI and 121 as EJ patients. The average annual cost of care ranged from circa $30,000-$50,000 per annum in the first few years after diagnosis to circa $70,000-$90,000 per year thereafter. At time of MLD diagnosis, most costs were related to evaluation and management with average annual costs circa $5,000. The cost category with the highest annual cost was home nursing care, which was positively correlated with the number of years of observation since MLD diagnosis and ranged from circa $15,000 in the first few years after diagnosis, to circa $52,000 in the later stages of disease.

CONCLUSIONS: This analysis is the first study to investigate the relationship between costs and disease progression for MLD using claims data. It confirms the hypothesis that the annual cost of care increases with MLD disease progression, reflecting the severe burden of disease.