AI for Rare Disease Diagnosis in Real World
Trial statusNot yet recruiting
Trial phaseNot applicable
Trial typeInterventional
Biological sexAll
Age0+
SponsorPeking Union Medical College Hospital
About this trial
A multicentre, prospective, cluster-randomised, parallel-controlled real-world effectiveness study 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.
Eligibility criteria
Qualifiers
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.
Disqualifiers
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.
Trial design
Treatments tested in this trial
- AI system
Treatment groups
1,055 Participants
are divided into 2 treatment groupsSponsors and collaborators
Peking Union Medical College Hospital
Lead sponsor
Cangzhou Central Hospital
Collaborator
Zhangzhou Municipal Hospital
Collaborator
Dongguan People's Hospital
Collaborator
First People's Hospital of Foshan
Collaborator
Tibet Autonomous Region People's Hospital
Collaborator
Guizhou Provincial People's Hospital
Collaborator
Tianjin Children's Hospital
Collaborator
The First People's Hospital of Yunnan
Collaborator
Qinghai People's Hospital
Collaborator
Source ClinicalTrials.gov