Artificial Intelligence for Rare Disease Diagnosis

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.

NCT Number	NCT07625436
Lead Sponsor	Peking Union Medical College Hospital Collaborators: Cangzhou Central Hospital, Zhangzhou Municipal Hospital of Fujian Province, Dongguan People's Hospital, First People's Hospital of Foshan, Tibet Autonomous Region People's Hospital, Guizhou Provincial People's Hospital, Tianjin Children's Hospital, The First People's Hospital of Yunnan, Qinghai People's Hospital
Conditions	Rare Disorders, Rare Diseases
Enrollment	150 participants
Start Date	2026-06-20
Primary Completion	2026-12-01 (estimated)
Study Completion	2027-06-01 (estimated)
Updated on ClinicalTrials.gov	2026-06-04