PMS57 Understanding the Impact of XLMTM on Parents and Caregivers in the US: An Analysis of Survey Results

Abstract

X-linked myotubular myopathy (XLMTM), an ultra-rare, life-threatening congenital myopathy, is characterized by severe muscle weakness and respiratory failure often requiring ventilation. Most XLMTM patients never achieve independent ambulation and require lifelong respiratory support and extensive caregiving. This survey aimed to quantify the indirect medical cost, health resource use (HRU) and quality of life (QoL) impact of XLMTM on parents and caregivers. With the assistance of multiple XLMTM patient advocacy organizations, a web-based survey was provided to US parents and/or caregivers of children with XLMTM. The survey captured HRU, caregiver-reported out-of-pocket (OOP) costs, caregiver QoL data (via EQ-5D-5L tool) and the societal impact during the caregiving period. OOP costs did not include direct medical costs. Ventilation use was used to stratify results (i.e. non-invasive ventilation (NIV)<16hrs, invasive ventilation (IV) or NIV≥16hrs). There were 22 eligible survey respondents that cared for XLMTM patients with varying ventilation requirements (n= 3 NIV<16hrs; n= 19 IV or NIV≥16hrs) for 14 years, on average. Caregivers reported reduced QoL, primarily impacting the “usual activities” and “anxiety/depression” EQ-5D-5L domains, resulting in a disutility of -0.123 compared to the general population. On average, XLMTM patients required 2 unpaid caregivers, each providing >30 hours/week of care. Additionally, unpaid caregivers missed an average of 19.9 workdays/year, resulting in an estimated annual productivity loss of $73,836-$136,236/caregiver. Annual OOP costs for caregivers varied by patient ventilation use (NIV<16hrs=$2,667; IV or NIV≥16hrs =$10,568) and indirect costs were 2.9 times greater for patients requiring IV or NIV≥16hrs vs NIV<16hrs. 59% of XLMTM patients received SSDI aid. XLMTM has a major impact on family finances and caregiver quality of life. In addition to the substantial direct medical costs described elsewhere, unpaid caregivers of highly ventilated patients incur considerable OOP costs along with patient care demands similar to the time requirements of a full-time job.