Automatic facial phenotyping from 2D photos
Automatic Phenotyping of Patients on 2D Photography
This project tries to use artificial intelligence on frontal and profile photos to help identify craniofacial features in patients with dysmorphia or rare genetic conditions.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 22000 (estimated) |
| Sex | All |
| Sponsor | Imagine Institute Academic / other |
| Locations | 1 site (Paris) |
| Trial ID | NCT06219421 on ClinicalTrials.gov |
What this trial studies
This observational project reuses clinical frontal and profile facial photographs and associated clinical data from patients seen in medical genetics and maxillofacial/craniofacial surgery at Necker Hospital. Researchers will apply and train AI algorithms on these 2D images to automatically detect dysmorphic facial features linked to rare diseases. A control group of patients treated for non-dysmorphic maxillofacial conditions will provide comparative data. Patients who had prior facial or skull surgery before their first photo or who refuse data reuse are excluded.
Who should consider this trial
Good fit: Ideal candidates are patients followed in medical genetics or undergoing maxillofacial/craniofacial surgery who have frontal and profile facial photographs taken as part of their care and consent to reuse of their data.
Not a fit: Patients who had facial or skull surgery before their initial photo, who object to data reuse, or whose conditions do not produce identifiable facial features are unlikely to benefit.
Why it matters
Potential benefit: If successful, the tool could help clinicians spot subtle craniofacial signs earlier and reduce diagnostic delays for rare diseases.
How similar studies have performed: Previous AI facial-phenotyping efforts (for example DeepGestalt/Face2Gene) have shown promising diagnostic accuracy for some syndromes but performance varies and many approaches remain experimental.
Eligibility criteria
Show full inclusion / exclusion criteria
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.
Where this trial is running
Paris
- Necker - Hôpital des Enfants Malades — Paris, France (Recruiting)
Study contacts
- Study coordinator: Yasmine Ainouz, MD
- Email: yasmine.ainouz@institutimagine.org
- Phone: +33 1 42 75 45 65
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.