REAL-WORLD DEMOGRAPHIC AND TREATMENT CHARACTERISTICS OF PATIENTS WITH CONGENITAL MYASTHENIC SYNDROME IN THE UNITED STATES
Author(s)
SYED RAZA, MBA, MSc1, Charlotte E. Ward, PhD2, Namith Dharani, BE3, Rebecca Shilling, MD4, deMauri Mackie, PhD5, Amit Goyal, MBA6;
1Argenx, Global HEOR Director, Milton Keynes, United Kingdom, 2ZS Associates, Concord, NH, USA, 3ZS Associates, Bangaluru, India, 4Argenx, Boston, MA, USA, 5argenx, Elkins Park, PA, USA, 6ZS Associates, Lawrence Township, NJ, USA
1Argenx, Global HEOR Director, Milton Keynes, United Kingdom, 2ZS Associates, Concord, NH, USA, 3ZS Associates, Bangaluru, India, 4Argenx, Boston, MA, USA, 5argenx, Elkins Park, PA, USA, 6ZS Associates, Lawrence Township, NJ, USA
OBJECTIVES: Congenital Myasthenic Syndromes (CMS) are rare inherited neuromuscular disorders with early onset and heterogeneous presentation. This study aims to provide a preliminary real-world assessment of CMS patient characteristics in the United States, including their demographic characteristics and treatment utilization.
METHODS: A retrospective analysis was conducted using Komodo Health’s Prism platform, which includes longitudinal patient journeys across the U.S., covering both open and closed claims data. Patients were identified based on ≥2 claims for ICD-10 code G70.2 (Congenital and developmental myasthenia) ≥30 days apart within a two-year window, or ≥1 inpatient claim, between 2018 and September 2022. To ensure specificity, patients with ≥2 claims for differential diagnoses (e.g., myasthenia gravis, LEMS, muscular dystrophies) were excluded. Descriptive analyses were conducted on age, gender, payer type, and treatment utilization.
RESULTS: A total of 336 patients met inclusion/exclusion criteria (out of ~300 million lives covered). The cohort was primarily pediatric (<18 years), comprising 63% of the population, including 50% under 12 years. Among pediatric patients, 53% were male, while 55% of adult patients (≥18 years) were female. Insurance coverage patterns varied by age: Medicaid was the most common payer among pediatric patients (53%), followed by commercial insurance (42%), while adults were split across Medicare (40%), commercial (35%), and Medicaid (22%). Among 123 patients with payer-complete claims data, 71% of pediatric and 22% of adult patients utilized occupational or physical therapy within a year of diagnosis. Albuterol was the most used medication, observed in 37% of pediatric and 27% of adult patients.
CONCLUSIONS: CMS are a ultra-rare conditions that primarily affects pediatric patients and presents challenges for identification in claims data. This analysis offers early insights into claims-based identification and patient characteristics. High proportion of patients utilizing OT/PT services suggests notable functional impairment. Further research is warranted to deepen understanding of the patient journey and overall disease burden.
METHODS: A retrospective analysis was conducted using Komodo Health’s Prism platform, which includes longitudinal patient journeys across the U.S., covering both open and closed claims data. Patients were identified based on ≥2 claims for ICD-10 code G70.2 (Congenital and developmental myasthenia) ≥30 days apart within a two-year window, or ≥1 inpatient claim, between 2018 and September 2022. To ensure specificity, patients with ≥2 claims for differential diagnoses (e.g., myasthenia gravis, LEMS, muscular dystrophies) were excluded. Descriptive analyses were conducted on age, gender, payer type, and treatment utilization.
RESULTS: A total of 336 patients met inclusion/exclusion criteria (out of ~300 million lives covered). The cohort was primarily pediatric (<18 years), comprising 63% of the population, including 50% under 12 years. Among pediatric patients, 53% were male, while 55% of adult patients (≥18 years) were female. Insurance coverage patterns varied by age: Medicaid was the most common payer among pediatric patients (53%), followed by commercial insurance (42%), while adults were split across Medicare (40%), commercial (35%), and Medicaid (22%). Among 123 patients with payer-complete claims data, 71% of pediatric and 22% of adult patients utilized occupational or physical therapy within a year of diagnosis. Albuterol was the most used medication, observed in 37% of pediatric and 27% of adult patients.
CONCLUSIONS: CMS are a ultra-rare conditions that primarily affects pediatric patients and presents challenges for identification in claims data. This analysis offers early insights into claims-based identification and patient characteristics. High proportion of patients utilizing OT/PT services suggests notable functional impairment. Further research is warranted to deepen understanding of the patient journey and overall disease burden.
Conference/Value in Health Info
2026-05, ISPOR 2026, Philadelphia, PA, USA
Value in Health, Volume 29, Issue S6
Code
HSD17
Topic
Health Service Delivery & Process of Care
Disease
SDC: Rare & Orphan Diseases