Artificial Intelligence for Rare Disease Diagnosis

Starting soon · Not applicable

Conditions studied: Rare Disorders, Rare Diseases

In brief

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.

Key facts

Study ID

NCT07625436

Run by

Peking Union Medical College Hospital

People needed

150

Starts

2026-06-20

Expected to finish

2027-06-01

Last updated by the study team

2026-06-04

Who can join

Age: 18 and older. Sex: any. Healthy volunteers: accepted.

You may qualify if…

• 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.

You may not qualify if…

• 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.

Where it is running

• 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

Full record on ClinicalTrials.gov

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