AI vs. rare diseases: can a computer Out-Diagnose doctors?
NCT ID NCT07625436
First seen Jun 27, 2026 · Last updated Jun 27, 2026
Summary
This study tests whether an artificial intelligence (AI) tool can help doctors better diagnose rare diseases. About 150 doctors will either use the AI or rely on standard methods to diagnose real patient cases. The goal is to see if AI improves accuracy and speed, which could lead to faster treatment for patients with hard-to-diagnose conditions.
This is an AI summary of the original study and may miss details. Read our disclaimer.
Study facts
What this study's own registry entry says, in plain language.
- Phase
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Not a phased trial
Phase numbers describe drug development. The registry uses this when they do not apply, as it does for trials of devices, procedures or behaviour changes, and for observational studies.
- Participants
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About 150 people
The number the study aims to enrol. It can still change while the study runs.
- Expected to start
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Jun 2026
An estimate. Start dates often move.
- Expected to finish
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Jun 2027
An estimate. End dates often move.
- Lead sponsor
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Other sponsor
The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
- Ages
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18 years and older
- Sex
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Anyone
- Healthy volunteers
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Accepted
You do not need to have the condition being studied to take part.
Show the full entry requirements Hide the full entry requirements
Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
Inclusion Criteria: * 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. Exclusion Criteria: * 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.
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
How to take part
Only the study team decides who joins. These are the ways to reach them.
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The places running it
13 sites. The list below names each one and where it is.
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The official record
ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.
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A doctor treating you
A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.
Contacts and locations
Locations
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Cangzhou Central Hospital
Cangzhou, China
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Changchun Sacred Heart Hospital
Changchun, China
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Dongguan People's Hospital
Dongguan, China
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First People's Hospital of Foshan
Foshan, China
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Guizhou Provincial People's Hospital
Guiyang, China
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Jilin Central General Hospital
Jilin City, China
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Peking Union Medical College Hospital
Beijing, China
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Qinghai Provincial People's Hospital
Xining, China
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The First People's Hospital of Yunnan Province
Kunming, China
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Tianjin Children's Hospital
Tianjin, China
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Tibet Autonomous Region People's Hospital
Lhasa, China
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Wuhai People's Hospital
Wuhai, China
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Zhangzhou Municipal Hospital of Fujian Province
Zhangzhou, China
More trials for these conditions
Other studies related to the condition(s) this trial covers.
- Can a structured handoff improve care for rare hormone disorders?
- One-shot gene editor aims to correct a brain disorder at its source
- A cartoon-style program may help children with rare diseases understand their condition and boost mental health
- Hackathon for the undiagnosed: mayo clinic launches repository to crack rare disease cases
- Biobank aims to unlock genetic secrets of rare diseases
- AI could shorten the long road to a rare disease diagnosis