OBJECTIVES: Duchenne muscular dystrophy (DMD) is a rare, severe, progressive muscle disease associated with substantial burden to patients, their families, and societies. Limited data are available on the epidemiology and the total burden of disease (BoD) in Finland. The two main objectives were: 1. Verify the validity of ICD-10 coding for identification of DMD patients in the Finnish healthcare registries (HRs), 2. Design a real-world (RW) study concept to assess the total BoD.

METHODS: The number of unique patients and all visits with the ICD-10 code G71.06 (DMD) between 2011–2020 were extracted in aggregated level in the HRs of the National Institute for Health and Welfare to assess epidemiology and and healthcare resource utilization (HCRU) of DMD patients in Finland. A real-world (RW) study concept for characterization of the BoD was designed based on the feasibility results.

RESULTS: Between 2011–2020, there were on average 120 (117–123) patients with DMD per year in Finland, with on average 5.3 (min–max, 2–7) new cases diagnosed annually. The mean age at DMD diagnosis was 5.5 (0–31) years. Patients had on average 7.0 (3.8–10.7) DMD-related visits and 1.1 (0.5-1.4) inpatient periods in the specialty care annually. In the RW study, individual-level data from the Finnish health and social registers are collected for DMD patients and their caregivers between 1996–2022. Supplementary data are collected from municipalities (received support) and electronic health records to allow for a detailed characterization of the disease progression and the dystrophin gene mutations.

CONCLUSIONS: Based on the review of feasibility results by expert clinicians, the ICD-10 code can be used to reliably identify DMD patients in the HRs. To address clinical characteristics, disease progression, and management of DMD patients, and total BoD, a RW study utilizing individual-level data from numerous registers is a necessity.