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AI-assisted Rare Disease Diagnosis

2026年7月30日 更新者：Shuyang Zhang, MD, PhD、Peking Union Medical College Hospital

A Multicentre Randomised Controlled Trial of LLM-Assisted Diagnostic Support in Patients With Suspected Rare or Diagnostically Unresolved Disease

A multicentre randomised controlled trial evaluating whether a rare-disease diagnostic large language model can improve diagnostic quality, efficiency, and health-economic outcomes for physicians managing patients with suspected rare or diagnostically unresolved disease.

研究概览

地位

尚未招聘

条件

干预/治疗

详细说明

Rare disease patients commonly experience prolonged diagnostic odysseys rooted in limited rare disease recognition, phenotypic heterogeneity, and dispersed diagnostic clues. Diagnostic decision-support large language models may improve first-visit consultations by integrating prior records, generating structured analyses, and proposing candidate diagnoses, thereby shortening diagnostic pathways and improving appropriate genetic testing referral.

Participating physicians will provide care under both AI-assisted and standard diagnostic workflows. Eligible patients will be individually randomised to receive either AI-assisted diagnostic support or standard clinical practice.

In the intervention arm, physicians will have diagnostic support from AI when seeing patients. In the control arm, patients are seen under standard hospital workflow without any generative AI tools. Outcomes adjudicated by an independent Expert Committee blinded to arm assignment; adjudicators access no AI-generated materials.

A prospective within-trial economic evaluation will be conducted alongside the randomized trial. Healthcare resource use and costs associated with the diagnostic pathway will be collected.

研究类型

介入性

注册 (估计的)

1056

阶段

  • 不适用

联系人和位置

本节提供了进行研究的人员的详细联系信息，以及有关进行该研究的地点的信息。

学习联系方式

学习地点

  • 中国
      • Beijing、中国
        • Peking Union Medical College Hospital
        • 接触：
      • Cangzhou、中国
        • Cangzhou Central Hospital
        • 接触：
      • Changchun、中国
        • Changchun Sacred Heart Hospital
      • Dongguan、中国
        • Dongguan People's Hospital
      • Foshan、中国
        • First People's Hospital of Foshan
      • Guiyang、中国
        • Guizhou Provincial People's Hospital
      • Jilin City、中国
        • Jilin Central General Hospital
      • Kunming、中国
        • The First People's Hospital of Yunnan Province
      • Tianjin、中国
        • Tianjin Children's Hospital
      • Tianshui、中国
        • Tianshui 407 Hospital
        • 接触：
      • Wuhai、中国
        • Wuhai People's Hospital
      • Xining、中国
        • Qinghai Provincial People's Hospital
      • Zhangzhou、中国
        • Zhangzhou Municipal Hospital of Fujian Province

参与标准

研究人员寻找符合特定描述的人，称为资格标准。这些标准的一些例子是一个人的一般健康状况或先前的治疗。

资格标准

适合学习的年龄

  • 孩子
  • 成人
  • 年长者

接受健康志愿者

不

描述

Patient Inclusion Criteria:

  • Any age. Legal guardian co-signs consent for minors or individuals lacking legal capacity.
  • Diagnostically unresolved or suspected rare disease, with at least one prior complete clinical evaluation at a secondary-level or higher institution yielding no confirmed explanatory diagnosis.
  • First presentation to the enrolling institution for the current condition, with no prior records in the institutional HIS or outpatient system.
  • No prior genetic testing related to the current condition; no results or reports available.
  • Written informed consent provided voluntarily by patient or legal guardian, with commitment and ability to complete structured follow-up.

Patient Exclusion Criteria:

  • Confirmed diagnosis (clinical, pathological, or molecular) explaining the primary symptoms.
  • Emergency presentation, critical illness, or any condition incompatible with trial participation.
  • Neither patient nor legally authorised proxy able to complete follow-up.
  • Concurrent enrollment in another interventional study with diagnostic accuracy or genetic testing yield as a primary endpoint.
  • Prior use of another AI system has already yielded a confirmed diagnosis for the current condition.

Physician Inclusion Criteria

  • Licensed physician in internal medicine, neurology, pediatrics, general medicine, rare disease, or a related specialty.
  • ≥2 years of clinical practice; competent to manage rare disease patients; stratified into junior or senior tier.
  • Voluntary participation with written informed consent.

Physician Exclusion Criteria

  • No longer in clinical practice, or unable to fulfill required outpatient duties during the study period.
  • Unwilling to provide informed consent or to permit protocol-required collection of consultation and questionnaire data.
  • Currently enrolled in another AI-assisted clinical workflow, or expected to be unable to comply with the procedures.

学习计划

本节提供研究计划的详细信息，包括研究的设计方式和研究的衡量标准。

研究是如何设计的？

设计细节

  • 主要用途：诊断
  • 分配：随机化
  • 介入模型：并行分配
  • 屏蔽：单身的

武器和干预

参与者组/臂
干预/治疗
实验性的：AI system
AI system will be used to provide diagnostic support during the encounter in addition to conventional clinical workflow. Use of other generative AI tools is prohibited.
其他：AI system
The study AI system will be used to provide diagnostic support during the clinical encounter, including structuring relevant clinical information, generating a clinical analysis, and suggesting candidate diagnoses for review by the treating physician.
无干预：Standard of care
The physician conducts the encounter per standard hospital workflow using conventional clinical resources only. Use of any generative AI tool is prohibited.

研究衡量的是什么？

主要结果指标

结果测量
措施说明
大体时间
Overall Correct Diagnostic Yield
大体时间：From the first visit to final reference diagnosis adjudication, an average of 8 weeks.
The proportion of all randomised patients whose clinical diagnosis by the end of follow-up is concordant with the blinded-adjudicated final reference diagnosis determined by an independent committee.
From the first visit to final reference diagnosis adjudication, an average of 8 weeks.

次要结果测量

结果测量
措施说明
大体时间
Physician-Reported Experience
大体时间：Assessed at each consultation (day 1), within 1 day.
Physicians will assess their experience of the diagnostic workflow. Responses will be recorded using a standardized rating scale (range 1-5, where higher scores indicate more positive experience).
Assessed at each consultation (day 1), within 1 day.
Patient-Reported Experience
大体时间：Assessed at each consultation (day 1), within 1 day.
Patients will assess their experience of the diagnostic workflow. Responses will be recorded using a standardized rating scale (range 1-5, where higher scores indicate more positive experience).
Assessed at each consultation (day 1), within 1 day.
Appropriate Genetic Testing Recommendation Rate
大体时间：From the initial consultation to genetic testing indication adjudication, approximately 8 weeks
The proportion of randomized patients for whom physician-recommended genetic testing is concordant with the indication determined by an independent genetics adjudication committee.
From the initial consultation to genetic testing indication adjudication, approximately 8 weeks
Candidate Diagnostic Accuracy
大体时间：From the first visit to final reference diagnosis adjudication, an average of 8 weeks.
The agreement between physician-provided candidate diagnoses in the the initial consultation and the independently adjudicated reference diagnosis.
From the first visit to final reference diagnosis adjudication, an average of 8 weeks.
Molecular Diagnostic Yield
大体时间：From the first visit to final reference diagnosis adjudication, an average of 8 weeks.
The proportion of all randomized patients in whom genetic testing performed as part of the clinical diagnostic pathway identifies a clinically relevant molecular finding that is confirmed through independent genetics review.
From the first visit to final reference diagnosis adjudication, an average of 8 weeks.
Time to a Correct Diagnosis
大体时间：From enrollment to the end of follow-up, up to 8 weeks.
The number of days from the first study visit to the first physician-assigned diagnosis that is subsequently confirmed as concordant with the independently adjudicated reference diagnosis.
From enrollment to the end of follow-up, up to 8 weeks.
Duration of the Initial Physician Consultation
大体时间：Assessed at each consultation (day 1), within 1 day.
In-room consultation time will be recorded, measured, and compared between arms.
Assessed at each consultation (day 1), within 1 day.

合作者和调查者

在这里您可以找到参与这项研究的人员和组织。

赞助

Peking Union Medical College Hospital

合作者

Guizhou Provincial People's Hospital
First People's Hospital of Foshan
Dongguan People's Hospital
Qinghai People's Hospital
Cangzhou Central Hospital
The First People's Hospital of Yunnan
Tianjin Children's Hospital
Zhangzhou Municipal Hospital

调查人员

  • 首席研究员：Shuyang Zhang, MD, PhD、Peking Union Medical College Hospital

研究记录日期

这些日期跟踪向 ClinicalTrials.gov 提交研究记录和摘要结果的进度。研究记录和报告的结果由国家医学图书馆 (NLM) 审查，以确保它们在发布到公共网站之前符合特定的质量控制标准。

研究主要日期

学习开始 (估计的)

2026年8月1日

初级完成 (估计的)

2027年7月1日

研究完成 (估计的)

2027年12月1日

研究注册日期

首次提交

2026年6月7日

首先提交符合 QC 标准的

2026年6月14日

首次发布 (实际的)

2026年6月16日

研究记录更新

最后更新发布 (实际的)

2026年7月31日

上次提交的符合 QC 标准的更新

2026年7月30日

最后验证

2026年7月1日

更多信息

与本研究相关的术语

关键字

其他相关的 MeSH 术语

其他研究编号

  • PUMCH I-26PJ0002

计划个人参与者数据 (IPD)

计划共享个人参与者数据 (IPD)？

是的

IPD 计划说明

De-identified IPD will be shared with qualified researchers upon reasonable request, subject to ethics approval and a data use agreement.

IPD 共享时间框架

Beginning 6 months after publication of the primary study results and ending 5 years after publication.

IPD 共享访问标准

Requests must include a scientifically sound research proposal and analysis plan, and evidence of ethics approval or exemption where applicable. Access will be subject to approval by the study steering committee and participating institutions, execution of a data use agreement, and compliance with applicable ethical, legal, and data-protection requirements. Data will be made available through a secure access environment or other controlled transfer mechanism. No directly identifiable participant information will be shared.

IPD 共享支持信息类型

  • 研究方案
  • 树液
  • 分析代码

药物和器械信息、研究文件

研究美国 FDA 监管的药品

不

研究美国 FDA 监管的设备产品

不

此信息直接从 clinicaltrials.gov 网站检索，没有任何更改。如果您有任何更改、删除或更新研究详细信息的请求，请联系 register@clinicaltrials.gov. clinicaltrials.gov 上实施更改，我们的网站上也会自动更新.

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