通过数字双胞胎推进罕见疾病治疗方法:药物开发和精确剂量管理的机遇
Charlotte Maria Ursula Dette1, Veronika Alberg1, Simeon Rüdesheim1,2
1Clinical Pharmacy, Saarland University, Saarbrücken 66123, Germany.
Computational and structural biotechnology journal
|December 17, 2025
概括
数字双胞胎 (DTs) 通过实现个性化预测和优化治疗,显示出罕见疾病 (RD) 研究的前景. 然而,目前的建模技术存在局限性,在研发和开发中实施DT仍处于早期阶段.
科学领域:
- 生物医学工程 生物医学工程
- 计算生物学 计算生物学
- 罕见疾病研究 罕见疾病研究
背景情况:
- 罕见疾病 (RDs) 存在重大挑战,包括遗传驱动因素,延迟诊断,有限的治疗方法和高成本.
- 患者人数有限,数据稀少,研究资金不足,阻碍了对研发人员病理生理学的理解和开发疗法的进展.
研究的目的:
- 审查数字双胞胎 (DTs) 在罕见疾病研究中的当前应用.
- 分析用于 RD 的 DTs 的建模技术,并确定它们的局限性.
- 讨论DTs在推动药物开发,疾病进展建模和R&Ds临床决策支持方面的潜力.
主要方法:
- 对16项关于在罕见疾病研究中数字双胞胎应用的研究进行系统审查.
- 分析基础建模技术,包括PBPK,PopPK,QSP和生理组建模.
- 识别阻止当前模型成为真正的数字双胞胎的局限性.
主要成果:
- 数字双胞胎越来越多地用于患者护理,疾病管理和资源优化.
- 采用了各种建模方法,但存在局限性,防止真正的数字双胞胎资格.
- 目前在罕见疾病研究中数字双胞胎的实施处于初始阶段.
结论:
- 数字双胞胎为推进罕见疾病研究提供了巨大的潜力,特别是在药物开发和个性化医学方面.
- 克服当前的建模局限性对于实现RDs数字双胞胎的全部能力至关重要.
- 需要进一步的开发和验证,以充分整合数字双胞胎到罕见疾病的临床实践和研究.
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