Real-World Analysis of Healthcare Resource Utilization by Patients with X-Linked Myotubular Myopathy (XLMTM) in the United States



Poster Number: 209


Alan Beggs, PhD, Boston Children's Hospital, Basil Darras, MD, Department of Neurology, University of Pittsburgh, Pittsburgh, PA, Tmirah Haselkorn, PhD, Astellas Gene Therapies, Dan Fisher, MBA,, Casie Genetti, MS, CGC, Boston Children's Hospital / Harvard Medical School, Weston Miller, MD, Formerly of Astellas Gene Therapies, Robert Graham, MD, Boston Children's Hospital / Harvard Medical School

Background: Patients with the rare, life-threatening congenital myopathy X-linked myotubular myopathy (XLMTM) require multidisciplinary care, which often includes invasive ventilator support, gastrostomy tube feeding, and wheelchair use. Real-world data assessing healthcare resource utilization (HCRU) in these patients are limited. Objectives: We analyzed a US medical claims database from 2016 to 2020 for individual medical codes (Healthcare Common Procedure Coding System [HCPCS], Current Procedural Terminology [CPT], and International Statistical Classification of Diseases and Related Health Problems [ICD-10]) to better understand HCRU in patients with XLMTM. Methods: A third-party tokenization software (Datavant) was used to maintain patient privacy and define a cohort of XLMTM patient tokens from a de-identified research registry dataset of diagnostically confirmed XLMTM patients and de-identified data from a genetic testing company, to provide a total of 80 patient tokens. An additional 112 patients were identified after October 2020 following the introduction of an XLMTM ICD-10 diagnosis code (G71.220). In total, 192 males with an XLMTM diagnosis were included. Results: The number of patients/year with claims increased from 120 to 154 and the number of claims per patients/year from 93 to 134 during the study period. Of the 146 patients with hospitalization claims, 80 (55%) were first hospitalized between ages 0 and 4 years. Across all patients, hospitalizations of 1-2 times, 3-9 times, and ≥10 times were 31%, 32%, and 14%, respectively. Patients received care from pulmonology (53%), pediatrics (47%), neurology (34%), and critical care (31%) specialists. The most common XLMTM-related conditions and procedures were respiratory events (82%), ventilation management (82%), feeding difficulties (81%), and feeding support (72%). The most frequent diagnostic codes were those investigating hepatobiliary abnormalities. This novel real-world analysis shows substantial disease burden in patients with XLMTM, including the need for respiratory and feeding support, multiple hospitalizations, and hepatobiliary complications. Conclusions: These data suggest the need for improved treatments and outcomes in these patients.