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
This trial does not accept healthy volunteersQualifiers
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
Design model
Parallel
Treatments tested in this trial
AI system
Other interventionPrior to consultation, the AI system will interact with patients to build a personalised medical profile, generate a structured clinical analysis, and recommend candidate diagnoses. During the encounter, the AI system will interact with and be reviewed by physicians.
Treatment groups
1,055 Participants
are divided into 2 treatment groupsGroup A: AI systemExperimental treatment 1 intervention
Group B: Standard of careNo intervention 0 interventions
Trial outcomes
Primary outcomes
1
Top-3 Candidate Diagnostic Accuracy
The proportion of patients whose physician-provided up to 3 candidate diagnoses at the first study visit include at least one concordant with the final reference diagnosis (denominator: all randomised patients with a blinded-adjudicated confirmed reference diagnosis; intention-to-treat population).
Time frame
From the first visit to final reference diagnosis adjudication, an average of 8 weeks.2
Rare Genetic Disease Diagnostic Yield
The proportion of all randomised patients who underwent genetic testing and had a clinically significant genetic variant (pathogenic or likely pathogenic) confirmed by an independent review committee blinded to arm assignment (denominator: all randomised patients). Variant pathogenicity classified per predefined ACMG/AMP guidelines.
Time frame
From the first visit to final reference diagnosis adjudication, an average of 8 weeks.Secondary outcomes
1
Overall Diagnostic Yield
Proportion of all randomised patients who receive a confirmed clinical diagnosis (confirmed by independent expert review) during the trial period.
Time frame
From the first visit to final reference diagnosis adjudication, an average of 8 weeks.2
Overall Diagnostic Accuracy
Among patients with a confirmed clinical diagnosis, the proportion whose diagnosis is concordant with the blinded-adjudicated final reference diagnosis.
Time frame
From the first visit to final reference diagnosis adjudication, an average of 8 weeks.3
Time to Diagnosis
Days from first visit to obtaining clinical diagnosis within the follow-up period. Patients without a confirmed diagnosis censored at end of follow-up.
Time frame
From enrollment to the end of follow-up, up to 8 weeks.4
Consultation Duration
In-room consultation time will be recorded, measured, and compared between arms. Pre-consultation AI interaction time and total visit time are additionally recorded for the intervention arm to fully characterise efficiency impact.
Time frame
Assessed at each consultation (day 1), within 1 day.Sponsors and contacts
Click on the lead sponsor to view all of their trials.
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
This trial is not recruiting at the moment. You can still explore other options: