AI-assisted Rare Disease Diagnosis

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.

NCT Number	NCT07650799
Lead Sponsor	Peking Union Medical College Hospital Collaborators: Cangzhou Central Hospital, Zhangzhou Municipal Hospital, Dongguan People's Hospital, First People's Hospital of Foshan, 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	1,056 participants
Start Date	2026-08-01
Primary Completion	2027-07-01 (estimated)
Study Completion	2027-12-01 (estimated)
Updated on ClinicalTrials.gov	2026-07-31