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AI could shorten the long road to a rare disease diagnosis

NCT ID NCT07650799

Diagnosis Sponsor: Peking Union Medical College Hospital Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now
This trial is taking on new participants right now.
Not yet recruiting This study
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 27, 2026 · Last updated Jul 31, 2026 · Updated 5 times

Summary

This trial tests whether a special AI system can help doctors diagnose rare diseases more accurately and efficiently. About 1,000 people with suspected rare or hard-to-diagnose conditions will take part. Before seeing the doctor, the AI will gather the patient's medical history and suggest possible diagnoses for the physician to review. The goal is to see if this AI assistance improves diagnostic quality and reduces the time and cost of finding the right diagnosis.

What this could mean

Our plain-language read of the trial. This is informational only, not medical advice or a prediction.

Active substance
AI diagnostic system
What this could lead to
If successful, this AI tool could help doctors identify rare diseases faster and more accurately, reducing the long diagnostic journey many patients face.
What could go wrong
This is a single trial testing an AI system in a specific setting; results may not apply broadly, and the AI may not outperform standard care or may miss diagnoses.

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

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

About 1,056 people

The number the study aims to enrol. It can still change while the study runs.

Expected to start

Aug 2026

An estimate. Start dates often move.

Expected to finish

Dec 2027

An estimate. End dates often move.

Lead sponsor

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

0 years and older

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show 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.

Patient Inclusion Criteria: * 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. * Written informed consent provided voluntarily by patient or legal guardian, with commitment and ability to complete structured follow-up. Patient Exclusion Criteria: * 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. * Prior use of another AI system has already yielded a confirmed diagnosis for the current condition. Physician Inclusion Criteria * Licensed physician in internal medicine, neurology, pediatrics, general medicine, rare disease, or a related specialty. * ≥2 years of clinical practice; competent to manage rare disease patients; stratified into junior or senior tier. * Voluntary participation with written informed consent. Physician Exclusion Criteria * No longer in clinical practice, or unable to fulfill required outpatient duties during the study period. * Unwilling to provide informed consent or to permit protocol-required collection of consultation and questionnaire data. * Currently enrolled in another AI-assisted clinical workflow, or expected to be unable to comply with the procedures.

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Conditions

The condition(s) this trial relates to.

disease Rare Diseases

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Rare diseases Rare disorders

How to take part

Only the study team decides who joins. These are the ways to reach them.

  1. The places running it

    13 sites. The list below names each one and where it is.

  2. The official record

    ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.

    Open the record ↗

  3. 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

  • Cangzhou Central Hospital

    Cangzhou, China

  • Changchun Sacred Heart Hospital

    Changchun, China

  • Dongguan People's Hospital

    Dongguan, China

  • First People's Hospital of Foshan

    Foshan, China

  • Guizhou Provincial People's Hospital

    Guiyang, China

  • Jilin Central General Hospital

    Jilin City, China

  • Peking Union Medical College Hospital

    Beijing, China

  • Qinghai Provincial People's Hospital

    Xining, China

  • The First People's Hospital of Yunnan Province

    Kunming, China

  • Tianjin Children's Hospital

    Tianjin, China

  • Tianshui 407 Hospital

    Tianshui, China

  • Wuhai People's Hospital

    Wuhai, China

  • Zhangzhou Municipal Hospital of Fujian Province

    Zhangzhou, China

More trials for these conditions

Other studies related to the condition(s) this trial covers.