Costs and Healthcare Resource Utilization Evaluation in Myotonic Dystrophy Type 1: Results from the Real-World Care-DM1 Study

OBJECTIVES: Myotonic dystrophy type 1 (DM1) is a multi-systemic disease affecting multiple tissue types including skeletal and smooth muscle, eye, brain, and heart. No disease-modifying therapies are currently available, highlighting an unmet care gap. Prior studies on clinical care and economic burden encompassed both DM1 and DM type 2. This study aimed to characterize the US DM1 population, assess organ system involvement rates, and estimate healthcare resource utilization (HRU) and associated costs.

METHODS: Clarivate Real-world Data was used from 01/01/2015 to 08/25/2023. Eligibility criteria included: DM1 diagnosis, data activity during ≥6 months pre- and ≥12 months post -index, and age ≥12 years. Individuals with congenital DM were excluded. Baseline demographic and clinical characteristics were described. The Kaplan-Meier method was used to estimate incident organ system involvement rates post-DM1 diagnosis. Annual HRU rates and costs to payers (2023 US dollars) post-DM1 diagnosis were summarized.

RESULTS: There were 1,343 people with DM1, who were predominantly female (55%) with an average age of 47.6 years. The majority had neurological, gastrointestinal, cardiac, pulmonary, and/or musculoskeletal organ system involvement, all of which showed a cumulative increase over a 7-year follow-up period. Annual HRU rates were much higher compared to the general U.S. population, including 24% vs 14% for ER, and 15% vs 6% for inpatient visits, respectively. Annual device use rates included noninvasive positive-pressure ventilation (12%), assistive devices (7%), and oxygen therapy (3%). The most frequent specialty visits were Rehabilitation (13%), Cardiology (13%), and Neurology (11%). The mean annual total cost of care was $20,687 (interquartile range: $74,220-$250,009), primarily driven by inpatient and outpatient hospital visits.

CONCLUSIONS: Individuals with DM1 incur significant clinical and economic burden, with a high incidence rate of organ involvement and substantial variation in costs, underscoring the medical complexity and heterogeneity of disease and emphasizing the need for safe and effective treatments.