To quantify healthcare resource use (HRU) and mortality associated with adrenomyeloneuropathy (AMN) in X-linked Adrenoleukodystrophy (ALD).

AMN is a neurodegenerative disease caused by mutations in ABCD1 resulting in progressive myeloneuropathy causing spastic paraparesis, sensory ataxia, loss of mobility, incontinence, and sexual dysfunction. AMN’s impact on HRU and mortality is unknown.

HRU was assessed using commercial insurance claims from IQVIA’s PharMetrics Plus database (1/01/2006-6/30/2021). The AMN cohort comprised men 18-64y with ≥1 inpatient or ≥2 outpatient claims containing an AMN diagnosis (ICD-10-CM: E71.52x; ICD-9-CM 277.86) and no evidence of childhood cerebral adrenoleukodystrophy or other peroxisomal disorders. AMN patients were 1:4 matched and compared to non-AMN individuals. Separately, mortality rates and age at death were assessed in the Medicare Limited Dataset (all ages).

We identified 303 AMN men with mean age 35.1±13.8y, followed for average 29 months.

Per year, AMN men had greater inpatient admissions (0.39 vs. 0.04); outpatient clinic (8.76 vs. 4.11), hospital (5.32 vs. 0.88) and home healthcare visits (4.57 vs. 0.24); and more durable medical equipment claims (0.70 vs. 0.13). Length-of-stay (8.78 vs. 4.32 days) was longer in AMN and they utilized more prescription medications (18.1 vs 5.4 pharmacy fills/year) than non-AMN.

Comorbidities were more common in AMN compared to controls, including peripheral vascular disease (4.6%), chronic pulmonary disease (6.3%), and liver disease (5.6%).

Mortality rates among male AMN Medicare enrollees were 5.3x higher for ages 18-64y (39.3% vs. 7.4%) and 2.2x for ≥65y (48.6% vs. 22.4%), both p<0.001).  Age at death was younger for male AMN enrollees 18-64y (47.0±11.3 vs. 56.5±7.8, p<0.001).

AMN imposes a substantial and previously under-recognized health burden for men with ALD, including more medical comorbidities, more healthcare use, higher mortality rates, and, in some subgroups, younger age at death. Further research to fully elucidate these findings is needed.