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AI reads faces to diagnose rare genetic diseases

NCT ID NCT06219421

Diagnosis Sponsor: Imagine Institute Source: ClinicalTrials.gov ↗

What the study statuses mean

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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 Results may not be published yet.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

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This status has not been confirmed recently, so it may be out of date.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 24, 2026 · Last updated Jun 27, 2026 · Updated 1 time

Summary

This study aims to train an artificial intelligence system to recognize rare genetic diseases by analyzing front and profile facial photographs. Researchers will collect photos from 22,000 patients with craniofacial features linked to rare conditions, as well as control subjects. The goal is to help doctors diagnose these diseases faster and more accurately, especially when subtle facial signs are hard to spot.

What this could mean

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

What this could lead to
If successful, this could lead to a faster, AI-assisted way to diagnose rare genetic diseases from facial photos, reducing years-long delays.
What could go wrong
This is an early-stage observational study, not a treatment trial. The AI may not work equally well across all ethnicities or rare conditions, and it won't replace genetic testing.

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 22,000 people

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

Started

Jan 2025

Expected to finish

Mar 2028

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

Recruitment will be carried out either: In Necker in the services of: * Medical genetics * Maxillofacial surgery / plastic surgery * Neurosurgery (functional craniofacial surgery unit) Outside Necker: * In other national university hospitals: Lille (maxillofacial surgery department), Nantes (maxillofacial surgery department), Montpellier (clinical genetics department) * In other international university hospitals: London (GOSH, London, Professor Dunaway) and Bangkok (genetics department, Professor Porntaveetus) * In a private orthodontic practice

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.

The patient inclusion criteria are: * Patients followed in medical genetics, * Patients undergoing maxillofacial surgery, or craniofacial surgery as part of the management of a pathology, of genetic origin or not, associated with dysmorphism of the head and neck, * Patients for whom frontal and profile facial photographs are taken as part of their treatment. The inclusion criteria for control subjects are: * Patients followed in maxillofacial surgery, for a disease other than a rare disease associated with dysmorphia in the head or neck: acute pathology (wound) or chronic (gynecomastia). * Patients for whom frontal and profile facial photographs are taken as part of their treatment. The criteria for non-inclusion of patients are: * Patients who have undergone facial or skull surgery before the first photo was taken. * Person subject to a judicial safeguard measure. * People objecting to the reuse of their health data. The criteria for non-inclusion of control subjects are: * Pathologies affecting facial symmetry (dental cellulitis, displaced fractures). * Patient followed for dysmorphic syndrome or in whom dysmorphic syndrome has been suspected. * Person subject to a judicial safeguard measure. * People objecting to the reuse of their health data.

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Conditions

The condition(s) this trial relates to.

body dysmorphic disorder Congenital Abnormalities Rare Diseases

As listed by the trial registrant

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

Dysmorphia Dysmorphies craniofaciales Orphan diseases

How to take part

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

  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

  • Necker - Hôpital des Enfants Malades

    RECRUITING

    Paris, France

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