Real-world evidence of eteplirsen treatment effects in patients with Duchenne muscular dystrophy in the USA.

Aim: To evaluate treatment effects of eteplirsen among patients with Duchenne muscular dystrophy. Methods: Using real-world claims and electronic medical record data, this retrospective comparative analysis assessed eteplirsen-treated and control cohorts matched by age, disease progression state, and pre-index period healthcare resource utilization. Poisson regression was used to evaluate eteplirsen effects on healthcare resource utilization outcomes. Results: Eteplirsen was associated with statistically significant reductions in rates of hospital encounters (31%), emergency room visits (31%), need for pulmonary management (33%), cardiac management (21%), tracheostomy (86%), and assisted ventilation (39%) versus the control group. Other assessed outcomes favored eteplirsen numerically but did not all reach statistical significance. Conclusion: Eteplirsen-treated patients had reduced rates of multiple healthcare resource utilization measures versus matched controls.

Delays in pulmonary decline in eteplirsen-treated patients with Duchenne muscular dystrophy.

INTRODUCTION/AIMS: Pulmonary decline is a major issue in patients with Duchenne muscular dystrophy (DMD). Eteplirsen is a United States-approved treatment for patients with DMD and exon 51 skip-amenable mutations. Previous analyses have shown that eteplirsen is associated with a statistically significant attenuation of pulmonary decline. In this study we evaluate the effect of eteplirsen treatment from newly available data sources on pulmonary function over time in patients with DMD. METHODS: We used a post hoc pooled analysis to compare the percentage of predicted forced vital capacity (FVC%p) and projected time with pulmonary function milestones in patients with DMD and exon 51 skip-amenable mutations receiving eteplirsen (Studies 204 and 301) or standard of care (SoC; Cooperative International Neuromuscular Research Group Duchenne Natural History Study). A mixed model for repeated-measures framework was applied to evaluate the impact of eteplirsen. RESULTS: An average annual rate of FVC%p decline for eteplirsen-treated patients was estimated to be 3.47%, a statistically significant attenuation from the 5.95% rate of decline estimated in SoC patients (P = .0001). Using linear extrapolations of the model-estimated decline in FVC%p, the attenuation in FVC%p decline for eteplirsen-treated patients corresponded to a delay of 5.72 years in time to needing continuous ventilation, 3.31 years in time to needing nighttime ventilation, and 2.11 years in time to needing a cough assist device compared with SoC patients. DISCUSSION: The attenuation of FVC%p decline suggests that eteplirsen-treated patients had statistically significant and clinically meaningful attenuations in pulmonary decline compared with SoC patients.

Disease Progression Stages and Burden in Patients with Duchenne Muscular Dystrophy Using Administrative Claims Supplemented by Electronic Medical Records.

INTRODUCTION: This study aims to identify stages of Duchenne muscular dystrophy (DMD) and assess the disease burden by progression stage using real-world administrative claims supplemented by relevant electronic medical record (EMR) data. METHODS: Claims and EMR data from the Decision Resources Group's Real World Data Repository (2011-2020) were used to identify patients with DMD by diagnosis code and to stratify them into four disease stages by diagnosis and procedure markers reflective of DMD progression. Clinical and medical history data from the Cooperative International Neuromuscular Research Group (CINRG) were used to validate the developed claims-based staging algorithm. The distribution and drivers by disease stage, as well as disease burden, were examined. RESULTS: A total of 938 (94%) of patients with DMD identified in claims/EMR data had sufficient information for stage classification. Patients were classified by stage based on patient characteristics and the presence or absence of progression markers such as genetic testing, wheelchair usage, scoliosis treatment, or ventilation assistance. Average ages at stages 1-4 are 7, 13, 18, and 23 years, respectively. Using natural history data, the claims-based staging algorithm was validated with high sensitivity and specificity rates. Both healthcare resource utilization and medical charges increased by stage. For example, the average annualized total charges were $17,688 (stage 1), $36,868 (stage 2), $72,801 (stage 3), and $167,285 (stage 4). CONCLUSIONS: Large-scale claims data supplemented by EMR data can be used to characterize DMD progression and evaluate disease burden which may inform the design of future real-world studies about DMD.