Sreenivasan Akshai Parakkal, Vaivade Aina, Noui Yassine, Khoonsari Payam Emami, Burman Joachim, Spjuth Ola, Kultima Kim
Department of Medical Sciences, Uppsala University, Uppsala, 75185, Sweden.
Department of Biochemistry and Biophysics, National Bioinformatics Infrastructure Sweden, Science for Life Laboratory, Stockholm University, Solna, 17121, Sweden.
NPJ Digit Med. 2025 Apr 24;8(1):224. doi: 10.1038/s41746-025-01616-z.
Accurate assessment of progression and disease course in multiple sclerosis (MS) is vital for timely and appropriate clinical intervention. The gradual transition from relapsing-remitting MS (RRMS) to secondary progressive MS (SPMS) is often diagnosed retrospectively with a typical delay of three years. To address this diagnostic delay, we developed a predictive model that uses electronic health records to distinguish between RRMS and SPMS at each individual visit. To enable reliable predictions, conformal prediction was implemented at the individual patient level with a confidence of 93%. Our model accurately predicted the change in diagnosis from RRMS to SPMS for patients who transitioned during the study period. Additionally, we identified new patients who, with high probability, are in the transition phase but have not yet received a clinical diagnosis. Our methodology aids in monitoring MS progression and proactively identifying transitioning patients. An anonymized model is available at https://msp-tracker.serve.scilifelab.se/ .
准确评估多发性硬化症(MS)的进展和病程对于及时且恰当的临床干预至关重要。从复发缓解型多发性硬化症(RRMS)到继发进展型多发性硬化症(SPMS)的逐渐转变通常是在回顾性诊断时出现典型的三年延迟。为解决这一诊断延迟问题,我们开发了一种预测模型,该模型利用电子健康记录在每次个体就诊时区分RRMS和SPMS。为实现可靠预测,在个体患者层面实施了置信度为93%的共形预测。我们的模型准确预测了在研究期间发生转变的患者从RRMS到SPMS的诊断变化。此外,我们识别出了新的患者,他们极有可能处于转变阶段但尚未得到临床诊断。我们的方法有助于监测MS进展并主动识别处于转变期的患者。一个匿名模型可在https://msp-tracker.serve.scilifelab.se/获取。