Artificial Intelligence for Rare Disease Diagnosis

NCT07625436 · tracked via the Priya Life Science China tracker

Sponsor

Peking Union Medical College Hospital

Phase

Not applicable

Started

2026-06-20

Last updated

2026-06-04

Condition(s) studied

Rare DisordersRare Diseases

Investigational drug(s) / intervention(s)

AI-Assisted Diagnosis

AI-Assisted Diagnosis: A rare disease-specific diagnostic AI model is used to accept free text input and assist in rare disease diagnoses. During the experimental condition, physicians may interact with the system freely alongside standard clinical resources to support their diagnostic reasoning.

Study summary

A multicentre, randomised diagnostic accuracy study to evaluate whether the rare disease-specific AI can improve diagnostic accuracy and efficiency for physicians managing real-world clinical cases.

Eligibility

Sex

ALL

Min age

18 Years

Max age

—

Healthy volunteers

Accepted

Inclusion Criteria: * 1\. Licensed physicians at the junior or senior level affiliated with internal medicine, neurology, pediatrics, and rare disease-related departments. * 2\. Willingness to provide written informed consent, adhere to trial protocols, and complete all required pre-study training prior to enrollment. Exclusion Criteria: * 1\. Prior exposure to any of the clinical cases included in the study case library. * 2\. Direct participation in the design or development of the AI model.

Primary outcome measure(s)

Top-3 Diagnostic Accuracy — Up to 60 minutes per case (from case presentation to diagnostic report submission).
The percentage of definitive diagnosis is included within the physician's top 3 choices.

Trial sites (13)

Facility	City	Region
Peking Union Medical College Hospital	Beijing	China
Cangzhou Central Hospital	Cangzhou	China
Changchun Sacred Heart Hospital	Changchun	China
Dongguan People's Hospital	Dongguan	China
First People's Hospital of Foshan	Foshan	China
Guizhou Provincial People's Hospital	Guiyang	China
Jilin Central General Hospital	Jilin City	China
The First People's Hospital of Yunnan Province	Kunming	China
Tibet Autonomous Region People's Hospital	Lhasa	China
Tianjin Children's Hospital	Tianjin	China
Wuhai People's Hospital	Wuhai	China
Qinghai Provincial People's Hospital	Xining	China
Zhangzhou Municipal Hospital of Fujian Province	Zhangzhou	China

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Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT07625436 on ClinicalTrials.gov ↗ ← All trials in China