Miller B, Jensen I, Dean R, Slocomb T, James ES, Beggs AH. 2020. Abstract PRO77: Health resource use in patients with x-linked myotubular myopathy (XLMTM): Data from the RECENSUS study. Value in Health 23(Sup 1):S342; doi: 10.1016/j.jval.2020.04.1298.
Abstract
Objectives: X-linked Myotubular Myopathy (XLMTM) is a rare genetic early-onset disease characterized by extreme muscle weakness, severe respiratory failure and early death. XLMTM most significantly impacts boys, and is caused by mutations in a single gene, MTM1, which result in deficiencies in the protein myotubularin that disrupt the normal development, maintenance and function of skeletal muscle. There are currently no disease modifying treatments for XLMTM and management is mainly supportive care with increasing levels of respiratory support. Using data from RECENSUS, an international, multicenter, retrospective medical record review, we assessed the impact of XLMTM on survival and healthcare resource use (HRU) by patient ventilator status and motor function. Methods: Nine health states were defined across two domains, ventilation status (ventilator free, noninvasive ventilation (NIV)<16hr, NIV≥16hr or tracheostomy) and best achieved motor milestone (not sitting, sitting without support and standing/walking). HRU estimates for hospitalizations, medications and surgical procedures were analyzed by health state. Survival and HRU estimates were also stratified by motor milestone and by date of birth (pre-/post-2010). Results: Motor milestone achievements (i.e. sitting, standing/walking) were each associated with improved overall survival. Eighty-four percent of patients remained in the initial health state over the follow-up period (average follow-up = 5.5 years). Patients receiving NIV ≥16 hours or a tracheostomy accounted for 78% of the total time spent in health states. Patients receiving NIV ≥16 hours or a tracheostomy had the greatest number of hospitalizations, medications and surgical procedures. The median age of patients at their first hospitalization was 0 months and 75% of the surgical procedures were reported by patients receiving NIV ≥16 hours or a tracheostomy. Conclusions: This study establishes meaningful health states to assess health resource utilization by patients with XLMTM and highlights the high impact on patients, families and healthcare systems of this severe condition.
