Automatic Phenotyping of Patients on 2D Photography

NCT ID: NCT06219421

Last Updated: 2026-01-12

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

22000 participants

Study Classification

OBSERVATIONAL

Study Start Date

2025-01-01

Study Completion Date

2028-03-01

Brief Summary

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The field of artificial intelligence is booming in medicine and in the field of diagnosis. The data can be varied: x-rays, pathology sections, or photographs.

It is considered that 30 to 40% of the 7000 rare diseases described to date cause craniofacial dysmorphia. Their detection sometimes requires the trained eye of a geneticist, because certain phenotypic traits are subtle. These diagnostic difficulties and the fact that certain diseases are extremely uncommon lead to considerable diagnostic delays

Detailed Description

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Conditions

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Dysmorphia Orphan Diseases Dysmorphies Craniofaciales

Study Design

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Observational Model Type

COHORT

Study Time Perspective

RETROSPECTIVE

Study Groups

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Patients

Clinical data reuse

Intervention Type OTHER

Clinical data reuse

Controls

Clinical data reuse

Intervention Type OTHER

Clinical data reuse

Interventions

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Clinical data reuse

Clinical data reuse

Intervention Type OTHER

Eligibility Criteria

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Inclusion Criteria

* 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.


* 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.
Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Imagine Institute

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Locations

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Necker - Hôpital des Enfants Malades

Paris, , France

Site Status RECRUITING

Countries

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France

Central Contacts

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Yasmine Ainouz, MD

Role: CONTACT

+33 1 42 75 45 65

Other Identifiers

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AIDY 2

Identifier Type: -

Identifier Source: org_study_id

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