OBJECTIVES: Adrenomyeloneuropathy (AMN) is the most common manifestation of X-linked adrenoleukodystrophy (X-ALD), a rare neurodegenerative disease caused by mutations in ABCD1, featuring progressive myeloneuropathy, spastic paraparesis, sensory ataxia, loss of mobility, incontinence, and sexual dysfunction. Presentation, onset and clinical manifestations vary between men and women. This study sought to quantify for the first time the impact of AMN on healthcare costs in commercially insured adults, both male and female, in the US.

METHODS: Direct medical costs were assessed using IQVIA’s PharMetrics Plus database (1/01/2006-6/30/2021). Study subjects were aged 18-64 years with ≥1 inpatient or ≥2 outpatient claims containing an AMN or X-ALD diagnosis (ICD-10-CM: E71.52x; ICD-9-CM 277.86), no evidence of childhood cerebral adrenoleukodystrophy or other peroxisomal disorders, and no evidence of pregnancy/labor and delivery. Subjects were propensity score matched to non-AMN controls on demographic characteristics. Patients were followed for as long as they were observable. Costs paid to providers by payers were estimated per patient per month (PPPM).

RESULTS: Among 806 patients with AMN, all-cause healthcare costs averaged $2,028±21,491 PPPM, considerably higher than controls (N=2,726; $369±3,931). Costs PPPM for both males (N=303; $2,431±28,720) and females (N=503; $1,656±11,260) with AMN were substantially greater than controls (males N= 1,037; $244±2,381|females N = 1,689; $472±4,849).

For the overall AMN cohort, inpatient admissions accounted for nearly half of costs ($950±21,017, 47%), with outpatient services ($684±2,876; 34%) and prescription medications ($394±$1,850; 19%) constituting the remainder. Within AMN inpatient costs reflected 0.025 hospitalizations PPPM, with higher rates for males (0.033), compared with females (0.018).

CONCLUSIONS: All-cause direct medical costs for commercially insured adults aged 18-64 years old with AMN are dramatically higher compared with adults without AMN, particularly for male patients. The costs for patients with AMN suggest greater disease-related healthcare issues for patients than has been previously recognized, and constitute a substantial overall financial and healthcare burden.