Qian Christina, Klimchak Alexa C, Szabo Shelagh M, Gooch Katherine L, Dragan Roxana, Prior Heather J, Mah Jean K
Broadstreet Health Economics & Outcomes Research, Vancouver, British Columbia, Canada.
Sarepta Therapeutics Inc., Cambridge, Massachusetts, USA.
Muscle Nerve. 2025 Jun;71(6):955-962. doi: 10.1002/mus.28368. Epub 2025 Feb 13.
There are few long-term studies evaluating clinical outcomes and mortality among individuals with Duchenne muscular dystrophy (DMD); particularly using longitudinal health administrative claims data, reflecting populations managed in typical clinical practice. This study aimed to characterize DMD outcomes via a population-based database.
Patients with DMD, diagnosed between 01/1979 and 03/2020 at ≤ 10 years of age, were identified using the Manitoba Population Research Data Repository housed at the Manitoba Centre for Health Policy. De-identified longitudinal administrative data from 1998 to 2020 were used to retrospectively assess frequencies and age at first observation of key DMD outcomes including scoliosis, cardiovascular-related complications, severe respiratory-related morbidities, and mortality. Survival analyses using Kaplan-Meier curves were used to describe attrition and estimate probability of patients remaining observation-free by age.
This study included 198 patients with median (IQR) follow-up of 9.6 (6.6-15.5) years. Corticosteroid use was observed in 26%, with a mean (SD) percentage of days covered of 31% (39%) from initiation to end of follow-up. Scoliosis observations were captured in 18% (median[IQR] age 12 [11-15] years at first observation), severe respiratory-related morbidities in 20% (14[6.5-18] years), and cardiovascular-related complications in 32% of the cohort (12.5[2-20.5] years). Mortality was observed in 14% of the cohort. Kaplan-Meier curves estimated 15% mortality by age 20 years and 20% by 25 years.
In a population-based data set with decades of follow-up, these data provide longitudinal observations of the substantial burden of DMD, and insight into contemporary estimates of mortality and treatment patterns in Canada.
很少有长期研究评估杜氏肌营养不良症（DMD）患者的临床结局和死亡率；特别是利用纵向健康管理索赔数据，以反映典型临床实践中管理的人群。本研究旨在通过基于人群的数据库描述DMD的结局。
利用曼尼托巴省卫生政策中心的曼尼托巴省人口研究数据存储库，识别出1979年1月至2020年3月期间诊断出的年龄≤10岁的DMD患者。使用1998年至2020年的去识别化纵向管理数据，回顾性评估首次观察到的关键DMD结局（包括脊柱侧弯、心血管相关并发症、严重呼吸相关疾病和死亡率）的频率和年龄。使用Kaplan-Meier曲线进行生存分析，以描述损耗情况并估计患者在各年龄时无观察到不良事件的概率。
本研究纳入了198例患者，中位（IQR）随访时间为9.6（6.6 - 15.5）年。26%的患者使用了皮质类固醇，从开始使用到随访结束，平均（SD）覆盖天数百分比为31%（39%）。18%的患者观察到脊柱侧弯（首次观察时的中位[IQR]年龄为12[11 - 15]岁），20%的患者观察到严重呼吸相关疾病（14[6.5 - 18]岁），32%的队列观察到心血管相关并发症（12.5[2 - 20.5]岁）。14%的队列观察到死亡。Kaplan-Meier曲线估计，20岁时死亡率为15%，25岁时为20%。
在一个有几十年随访的基于人群的数据集中，这些数据提供了DMD沉重负担的纵向观察结果，并深入了解了加拿大目前对死亡率和治疗模式的估计。
