Costs and health resource use in patients with X-linked myotubular myopathy: Insights from US commercial claims

Abstract

BACKGROUND: In X-linked myotubular myopathy (XLMTM), mutations in the MTM1 gene result in absence or dysfunction of myotubularin, a protein required for normal development, maintenance, and function of skeletal muscle. Extreme muscle weakness results in severe respiratory failure that is fatal for approximately half of XLMTM-affected children by age 18 months. Most surviving patients require invasive mechanical ventilation, feeding tubes, and wheelchairs for mobility, due to profoundly impaired motor function. Little is known about the costs of care for this rare disease Currently, there are no approved therapies for XLMTM. OBJECTIVE: To quantify the direct medical costs and health care resource utilization (HRU) incurred by XLMTM patients and pai by commercial insurers. METHODS: A retrospective, longitudinal study was conducted using the IQVIA PharMetrics Plus commercial database of adjudicated claims for more than 140 million individuals with commercial insurance coverage in the United States. An algorithm based on demographic information, diagnosis and procedure codes, and medications was used to identify XLMTM patients younger than aged 2 years during the study period from January 1, 2006, through September 30, 2018. All-cause direct medical costs and HRU during each month were calculated. Costs were grouped as inpatient hospital