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AI reads faces to spot rare genetic diseases, but can it work across ethnicities?

NCT ID NCT05913843

NEW Diagnosis Sponsor: National Taiwan University Hospital Source: ClinicalTrials.gov ↗

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Recruitment status, easiest to join first

Recruiting now This study
This trial is taking on new participants right now.
Not yet recruiting
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 Results may not be published yet.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

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Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Sep 21, 2026 · Last updated Sep 21, 2026

Summary

Researchers are testing whether an AI tool called GestaltMatcher can help diagnose rare genetic diseases by analyzing facial photos. The study includes about 100 people in Taiwan with suspected genetic conditions and unusual facial features. Doctors will also use eye-tracking to see how they examine faces, and the team will compare facial patterns and diagnostic accuracy between Taiwanese patients and patients from other countries.

What this could mean

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

Active substance
facial photo analysis with an AI system called GestaltMatcher
What this could lead to
If it works, this could help doctors diagnose rare genetic diseases faster and more accurately, especially in people whose facial features differ from the mostly European faces used to train current tools.
What could go wrong
The study is small and focuses on one ethnic group, so the results may not apply broadly. AI facial analysis can miss diagnoses or flag false ones, and it still needs a doctor's judgment.

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.

Participants

About 100 people

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

Started

Nov 2025

Expected to finish

Mar 2029

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.

Who is studied

Cases with abnormal appearance of clinical symptoms and suspected genetic diseases at National Taiwan University Hospital

Ages

Children (under 18), adults (18 to 64) and older adults (65 and over)

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.

Inclusion Criteria: * Cases with abnormal appearance of clinical symptoms and suspected genetic diseases Exclusion Criteria: * Unable to cooperate with the examiner

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Conditions

The condition(s) this trial relates to.

Rare Diseases

As listed by the trial registrant

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

Rare diseases

How to take part

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  1. The places running it

    1 site. 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

  • National Taiwan University Hospital

    RECRUITING

    Taipei, 10041, Taiwan

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