Diesing Joanna, Kirschner Janbernd, Pechmann Astrid, König Jörg, Kunk Leonie, Garcia Tarcyane Barata, Schwedhelm Carolina, Militzer-Horstmann Carsta, Hänsel Ivonne, Kisser Agnes
WIG2 GmbH, Scientific Institute for Health Economics and Health System Research, Markt 8, 04109, Leipzig, Germany.
Department of Neuropediatrics and Muscle Disorders, Faculty of Medicine, Medical Center - University of Freiburg, Breisacher Str. 62, 79106, Freiburg, Germany.
Orphanet J Rare Dis. 2025 Aug 13;20(1):429. doi: 10.1186/s13023-025-03906-x.
Duchenne muscular dystrophy (DMD) is a rare genetic disorder that primarily affects males. Beginning in childhood, patients experience ambulatory loss, heart failure and need ventilation. Disease management has improved, however, DMD remains debilitating, and has no cure. The rarity of the disease makes research difficult, and German prevalence data are lacking. Cost and resource utilization estimations are based on small sample sizes or self-reported data, limiting generalizability and adds the potential for recall bias. With a retrospective study on a healthcare claims database, we adapted algorithms to identify DMD patients and categorized them by disease stages 1-4 (early ambulatory, late ambulatory, early non-ambulatory, late non-ambulatory) with increasing disease progression. We analyzed annual prevalence, burden of disease, healthcare resource utilization and direct medical care costs, by time under observation (patient year).
From 2016 to 2021, we identified 134 patients for which we could determine a disease stage and determined an extrapolated prevalence of DMD in Germany between 14.85 (95%CI 12.17, 17.95) and 18.91 (95%CI 15.70, 22.61) per 100,000 males under 40 years of age. Most patients we identified met DMD stage 4 group criteria (47.01%), followed by stage 3 (37.31%), stage 2 (33.58%) and only 4.48% in stage 1. The average age increased with progressing disease, from 4.27 years in stage 1, to 11.43, 18.86 and 23.21 in stage groups 2, 3 and 4, respectively. In the stage 2 group, diagnosis codes reflecting mobility support and orthopedic surgical interventions (15.56% of the group) were documented. In the stage 3 group, decubitus prevention was documented, increasing to around half of patients in the stage 4 group. Total direct mean healthcare costs per patient year increased substantially with disease severity group, from €2,180.73 (SD 16,258.90) in stage 1; €13,599.83 (SD 33,756.07) in stage 2; €14,472.08 (SD 27,245.78) in stage 3 and finally €41,888.70 (SD 117,718.13) in stage 4. Especially in stage groups 3 and 4, medical aids accounted for about half of total costs.
We present an algorithm on which further research can be based, and provide a current picture of epidemiology, burden of disease and healthcare utilization and direct costs of DMD in Germany.
杜氏肌营养不良症（DMD）是一种罕见的遗传性疾病，主要影响男性。从儿童期开始，患者会出现行动能力丧失、心力衰竭并需要通气支持。尽管疾病管理有所改善，但DMD仍然使人衰弱，且无法治愈。该疾病的罕见性使得研究困难，德国缺乏患病率数据。成本和资源利用估计基于小样本量或自我报告数据，限制了普遍性，并增加了回忆偏差的可能性。通过对一个医疗理赔数据库的回顾性研究，我们采用算法识别DMD患者，并根据疾病进展将其分为1 - 4期（早期可行动、晚期可行动、早期不可行动、晚期不可行动）。我们按观察时间（患者年）分析了年患病率、疾病负担、医疗资源利用和直接医疗费用。
2016年至2021年期间，我们确定了134例可确定疾病分期的患者，并推断出德国40岁以下男性中DMD的患病率在每10万人中为14.85（95%CI 12.17，17.95）至18.91（95%CI 15.70，22.61）之间。我们确定的大多数患者符合DMD 4期组标准（47.01%），其次是3期（37.31%）、2期（33.58%），只有4.48%处于1期。平均年龄随疾病进展而增加，从1期的4.27岁，分别增至2期、3期和4期组的11.43岁、18.86岁和23.21岁。在2期组中，记录了反映行动支持和骨科手术干预的诊断代码（占该组的15.56%）。在3期组中，记录了压疮预防情况，在4期组中增加到约一半患者。每名患者每年的直接平均医疗费用随着疾病严重程度组大幅增加，从1期的2180.73欧元（标准差16258.90）；2期的13599.83欧元（标准差33756.07）；3期的14472.08欧元（标准差27245.78），到4期最终为41888.70欧元（标准差117718.13）。特别是在3期和4期组中，医疗辅助器具约占总费用的一半。
我们提出了一种可供进一步研究的算法，并提供了德国DMD的流行病学现状、疾病负担、医疗利用情况及直接费用情况。
