Marigold Foundation, 7515 Flint Road SE, Calgary, AB, T2H 1G3, Canada.
LapidusData Inc., Oklahoma City, OK, USA.
Orphanet J Rare Dis. 2022 Feb 23;17(1):79. doi: 10.1186/s13023-022-02241-9.
Myotonic dystrophy (DM) is a rare, inherited disorder with multi-systemic effects that impact the skeletal muscles, eyes, heart, skin and gastrointestinal, endocrine, respiratory, and central nervous systems. DM is divided into two subtypes: DM1 can present from early childhood through adulthood and also has a congenital form (cDM) while DM2 typically manifests during mid-adulthood. Both forms are progressive with no approved treatments, and unmet need for disease-modifying therapies remains high. This study interrogated health insurance claims data to explore the clinical experience, healthcare resource utilization (HCRU), and all-cause costs for DM.
A total of 8541 patients with DM and 242 patients with cDM and their matched controls were selected from a database of over 200 million claimants. HCRU and all-cause costs, including pharmacy, outpatient, and inpatient services, were analyzed across four years in 12-month follow-up periods. Mean all-cause costs per DM patient were high in each of the four periods (range $14,640-$16,704) and showed a steady increase from 13 to 23 months on, while the control group mean costs declined from $9671 in the first 12 months after the index event, to approach the US population average ($5193) over time. For cDM, the highest mean costs were in the first 12-months ($66,496 vs. $2818 for controls), and remained high (above $17,944) across all subsequent periods, while control mean costs approached $0. For DM and cDM, HCRU was higher compared to controls across all study periods and all-cause healthcare costs were mostly driven by inpatient and outpatient encounters. Analysis of all diagnosis codes over the study period (comorbidities) demonstrated an elevated comorbidity profile consistent with the clinical profile of DM.
This study is among the first to utilize claims data to increase understanding of the clinical experience and health economic outcomes associated with DM. The markedly elevated HCRU patterns and comorbidity profile presented here add to the broad body of scientific and clinical knowledge on DM. These insights can inform clinical care and support the development of disease modifying and/or symptom-targeting therapies that address the multi-systemic, progressive nature of DM.
肌强直性营养不良症（DM）是一种罕见的遗传性疾病，多系统受累，影响骨骼肌、眼睛、心脏、皮肤和胃肠道、内分泌、呼吸和中枢神经系统。DM 分为两种亚型：DM1 可从儿童期到成年期发病，也有先天性形式（cDM），而 DM2 通常在中年发病。两种形式均呈进行性发展，尚无批准的治疗方法，疾病修饰疗法的需求仍未得到满足。本研究利用医疗保险索赔数据来探讨 DM 的临床经验、医疗资源利用（HCRU）和全因成本。
从 200 多万索赔人的数据库中选择了 8541 名 DM 患者和 242 名 cDM 患者及其匹配对照者。在 12 个月的随访期内，分析了四年内的 HCRU 和全因成本，包括药房、门诊和住院服务。在四个时期内，每个 DM 患者的全因成本均较高（范围为 14640 美元至 16704 美元），从 13 个月到 23 个月呈稳步上升趋势，而对照组的成本从指数事件后的前 12 个月的 9671 美元下降，随着时间的推移接近美国人群平均水平（5193 美元）。对于 cDM，最高的平均费用发生在第 12 个月（66496 美元比对照者的 2818 美元），并且在所有后续期间均保持较高水平（高于 17944 美元），而对照者的平均费用接近 0 美元。对于 DM 和 cDM，与对照组相比，所有研究期间的 HCRU 均较高，全因医疗费用主要由住院和门诊就诊驱动。对研究期间所有诊断代码（合并症）的分析表明，合并症谱升高，与 DM 的临床特征一致。
本研究是利用索赔数据来提高对与 DM 相关的临床经验和健康经济结果的理解的首批研究之一。这里呈现的明显升高的 HCRU 模式和合并症谱增加了关于 DM 的广泛科学和临床知识。这些见解可以为临床护理提供信息，并支持开发针对 DM 的多系统、进行性疾病的修饰和/或症状靶向疗法。
