PDF(Pubmed)
Abstract：
Background/Objectives: Gaucher Disease type 1 (GD1) is a recessively inherited lysosomal storage disorder caused by a deficiency in the enzyme β-glucocerebrosidase. Enzyme replacement therapy (ERT) has become the standard of care for patients with GD. However, over 10% of patients experience an incomplete response or partial loss of response to ERT, necessitating the exploration of alternative approaches to enhance treatment outcomes. The present feasibility study aimed to determine the feasibility of using a second-generation artificial intelligence (AI) system that introduces variability into dosing regimens for ERT to improve the response to treatment and potentially overcome the partial loss of response to the enzyme. Methods: This was an open-label, prospective, single-center proof-of-concept study. Five patients with GD1 who received ERT were enrolled. The study used the Altus Care™ cellular-phone-based application, which incorporated an algorithm-based approach to offer random dosing regimens within a pre-defined range set by the physician. The app enabled personalized therapeutic regimens with variations in dosages and administration times. Results: The second-generation AI-based personalized regimen was associated with stable responses to ERT in patients with GD1. The SF-36 quality of life scores improved in one patient, and the sense of change in health improved in two; platelet levels increased in two patients, and hemoglobin remained stable. The system demonstrated a high engagement rate among patients and caregivers, showing compliance with the treatment regimen. Conclusions: This feasibility study highlights the potential of using variability-based regimens to enhance ERT effectiveness in GD and calls for further and longer trials to validate these findings.
摘要：
背景/目的：戈谢病1型（GD1）是一种隐性遗传性溶酶体贮积症，由β-葡萄糖脑苷脂酶缺乏引起。酶替代疗法（ERT）已成为GD患者的护理标准。然而,超过10%的患者对ERT有不完全反应或部分反应丧失，有必要探索替代方法来提高治疗效果。本可行性研究旨在确定使用第二代人工智能（AI）系统的可行性，该系统将变异性引入ERT的给药方案中以改善对治疗的反应并潜在地克服对酶的部分反应损失。方法：这是一个开放标签，prospective,单中心概念验证研究。纳入5例接受ERT的GD1患者。该研究使用了基于AltusCare™手机的应用程序，它结合了基于算法的方法，在医生设定的预定义范围内提供随机给药方案。该应用程序使个性化的治疗方案与剂量和给药时间的变化。结果：第二代基于AI的个性化方案与GD1患者对ERT的稳定反应相关。一名患者的SF-36生活质量评分有所改善，两名患者的健康变化感有所改善；两名患者的血小板水平升高，血红蛋白保持稳定。该系统在患者和护理人员中表现出很高的参与度，显示对治疗方案的依从性。结论：这项可行性研究强调了使用基于变异性的方案来提高GDERT有效性的潜力，并呼吁进一步和更长的试验来验证这些发现。
