AI-assisted Rare-Disease Diagnosis

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This trial compares AI-assisted diagnostic support with standard care in patients with suspected or unresolved rare diseases. Physicians use the AI system during patient visits in the intervention arm, while the control arm follows usual workflow without AI tools. Outcomes are adjudicated by an independent committee blinded to arm assignment, and a parallel economic evaluation will track health-care resource use and costs. Eligible patients include individuals of any age with no prior genetic testing and no confirmed diagnosis, seen for the current condition for the first time at participating centers. The study aims to improve diagnostic quality and efficiency and to assess cost-effectiveness of the AI approach in rare-disease care.

Why it matters

Who can join: the full rules

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.

Where it's running

• Jilin Central General Hospital
  Jilin City, China Recruiting
• Tianshui 407 Hospital
  Tianshui, China Recruiting
• Qinghai Provincial People's Hospital
  Xining, China Recruiting
• Cangzhou Central Hospital
  Cangzhou, China Not yet recruiting
• Dongguan People's Hospital
  Dongguan, China Not yet recruiting
• First People's Hospital of Foshan
  Foshan, China Not yet recruiting

Study contacts

• Principal investigator: Shuyang Zhang, MD, PhD — Peking Union Medical College Hospital
• Study coordinator: Shuyang Zhang, MD, PhD
• Email: shuyangzhang103@163.com
• Phone: +86-13911667211

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.