Kutrieb Emily, Vera Llonch Montserrat, Weycker Derek, Kymes Steven M, Brown Duncan, Smith Anne V, Pulido Robert S, Appleby Brian
Avalere Health, Boston, MA.
Ionis Pharmaceuticals Inc., Carlsbad, CA.
Neurol Clin Pract. 2025 Aug;15(4):e200502. doi: 10.1212/CPJ.0000000000200502. Epub 2025 Jun 25.
Evidence on the diagnostic journey and health care burden of patients with Creutzfeldt-Jakob disease (CJD) in the United States is limited. A real-world evidence study using a US health care claims database was undertaken to address this gap.
A retrospective observational cohort study was conducted using data from the Merative MarketScan Research Databases (01/2012-12/2020). Study population comprised adults aged 18 years or older with evidence of CJD (initial diagnosis = index date), no evidence of selected neurologic conditions after the last CJD diagnosis, and health care coverage during the 12-month pre-index period; adults meeting selection criteria are referred herein as "patients with CJD." Diagnostic journey was detailed based on evidence of symptoms and alternative neurologic conditions during the pre-index period as well as time to death (based on a proxy). Health care burden was summarized through levels of all-cause health care utilization and expenditures during the pre/post-index periods.
A total of 215 patients with CJD qualified for inclusion in the study population. The mean duration from first symptom to initial CJD diagnosis was 5.0 months, and 80% of patients had ≥3 symptoms, most commonly altered mental status (82%), gait/coordination disturbance (60%), and malaise/fatigue (44%). Most patients (63%) also had ≥1 alternative diagnosis, including cerebrovascular disease (49%), peripheral vertigo (11%), and Alzheimer disease (7%); the mean duration from first alternative diagnosis to initial CJD diagnosis was 2.4 months. The mean (median) time to death (proxy) from first symptom was 7.9 (6.6) months and from initial CJD diagnosis was 2.9 (1.1) months. During the 12-month pre-index period, mean (95% CI) cumulative health care expenditures were $35,493 ($28,914-$42,722); by the end of the post-index period, cumulative expenditures averaged $93,601 ($78,878-$109,776) per patient.
Study findings suggest that, in US clinical practice, patients with CJD present with one or more clinical symptoms affecting motor, cognitive, or other domains, and many alternative diagnoses are considered, which may prolong the diagnostic journey. Study findings also suggest that health care expenditures-especially proximate to the initial CJD diagnosis-are notably high. CJD should be considered in the differential diagnosis of adults with rapidly progressing dementia or motor disturbance.
在美国，关于克雅氏病（CJD）患者的诊断过程和医疗负担的证据有限。本研究使用美国医疗保健索赔数据库进行了一项真实世界证据研究，以填补这一空白。
利用默克多市场扫描研究数据库（2012年1月 - 2020年12月）的数据进行回顾性观察队列研究。研究人群包括18岁及以上有CJD证据（初始诊断 = 索引日期）、最后一次CJD诊断后无选定神经系统疾病证据且在索引前12个月内有医疗保健覆盖的成年人；符合选择标准的成年人在此称为“CJD患者”。根据索引前期间的症状证据和替代神经系统疾病以及死亡时间（基于替代指标）详细描述诊断过程。通过索引前/后期间的全因医疗保健利用率和支出水平总结医疗负担。
共有215名CJD患者符合纳入研究人群的条件。从首次出现症状到CJD初始诊断的平均持续时间为5.0个月，80%的患者有≥3种症状，最常见的是精神状态改变（82%）、步态/协调障碍（60%）和不适/疲劳（44%）。大多数患者（63%）也有≥1种替代诊断，包括脑血管疾病（49%）、周围性眩晕（11%）和阿尔茨海默病（7%）；从首次替代诊断到CJD初始诊断的平均持续时间为2.4个月。从首次出现症状到死亡（替代指标）的平均（中位数）时间为7.9（6.6）个月，从CJD初始诊断到死亡的平均（中位数）时间为2.9（1.1）个月。在索引前12个月期间，平均（95%CI）累计医疗保健支出为35,493美元（28,914美元 - 42,722美元）；到索引后期间结束时，每位患者的累计支出平均为93,601美元（78,878美元 - 109,776美元）。
研究结果表明，在美国临床实践中，CJD患者表现出一种或多种影响运动、认知或其他领域的临床症状，并且会考虑许多替代诊断，这可能会延长诊断过程。研究结果还表明，医疗保健支出 - 尤其是在CJD初始诊断附近 - 显著较高。对于快速进展性痴呆或运动障碍的成年人进行鉴别诊断时应考虑CJD。
