Real-world analysis of healthcare resource utilization by patients with X-linked myotubular myopathy (XLMTM) in the United States

• Published in: Orphanet journal of rare diseases 2023-06, Vol.18 (1), p.138-138, Article 138
• Main Authors: Graham, Robert J, Darras, Basil T, Haselkorn, Tmirah, Fisher, Dan, Genetti, Casie A, Miller, Weston, Beggs, Alan H
• Format: Article
• Language: English
• Subjects: Care and treatment; Child; Children; Comorbidity; Congenital diseases; Congenital myopathy; Datasets; Diagnosis; Disease management; Feeding; Genetic disorders; Genetic engineering; Genetic screening; Genetic Testing; Health care; Hospitals; Humans; Insurance claims analysis; Male; Males; Mechanical ventilation; Medical care; Medical coding; Medical innovations; Medical research; Medicine, Experimental; Muscle diseases; Mutation; Myopathies, Structural, Congenital - diagnosis; Myopathies, Structural, Congenital - genetics; Myopathies, Structural, Congenital - therapy; Myopathy; Neural coding; Neuromuscular diseases; Ostomy; Patient Acceptance of Health Care; Patient outcomes; Patients; Pediatrics; Rare diseases; Resource utilization; Scoliosis; Software; Terminology; Tracheostomy; United States; Utilization; X-linked myotubular myopathy
• ISSN: 1750-1172; 1750-1172
• DOI: 10.1186/s13023-023-02733-2

X-linked myotubular myopathy (XLMTM) is a rare, life-threatening congenital myopathy with multisystem involvement, often requiring invasive ventilator support, gastrostomy tube feeding, and wheelchair use. Understanding healthcare resource utilization in patients with XLMTM is important for development of targeted therapies but data are limited. We analyzed individual medical codes as governed by Healthcare Common Procedure Coding System, Current Procedural Terminology, and International Classification of Diseases, 10th Revision (ICD-10) for a defined cohort of XLMTM patients within a US medical claims database. Using third-party tokenization software, we defined a cohort of XLMTM patient tokens from a de-identified dataset in a research registry of diagnostically confirmed XLMTM patients and de-identified data from a genetic testing company. After approval of an ICD-10 diagnosis code for XLMTM (G71.220) in October 2020, we identified additional patients. A total of 192 males with a diagnosis of XLMTM were included: 80 patient tokens and 112 patients with the new ICD-10 code. From 2016 to 2020, the annual number of patients with claims increased from 120 to 154 and the average number of claims per patient per year increased from 93 to 134. Of 146 patients coded with hospitalization claims, 80 patients (55%) were first hospitalized between 0 and 4 years of age. Across all patients, 31% were hospitalized 1-2 times, 32% 3-9 times, and 14% ≥ 10 times. Patients received care from multiple specialty practices: pulmonology (53%), pediatrics (47%), neurology (34%), and critical care medicine (31%). The most common conditions and procedures related to XLMTM were respiratory events (82%), ventilation management (82%), feeding difficulties (81%), feeding support (72%), gastrostomy (69%), and tracheostomy (64%). Nearly all patients with respiratory events had chronic respiratory claims (96%). The most frequent diagnostic codes were those investigating hepatobiliary abnormalities. This innovative medical claims analysis shows substantial healthcare resource use in XLMTM patients that increased over the last 5 years. Most patients required respiratory and feeding support and experienced multiple hospitalizations throughout childhood and beyond for those that survived. This pattern delineation will inform outcome assessments with the emergence of novel therapies and supportive care measures.