Automatic Phenotyping of Patients on 2D Photography

NCT06219421 | Recruiting

• 1 other identifier: AIDY 2
• Study Type: observational
• Target: 22,000
• Locations: 1 country
• Sites: 1

Brief Summary

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

Conditions

Dysmorphia; Orphan Diseases; Dysmorphies Craniofaciales

Keywords

artificial intelligence

Outcome Measures

Primary Outcomes (1)

• Learning an algorithm on 2D front and profile photographs, by extracting geometric and textural features, to help the practitioner carry out a diagnosis.

  Learning an algorithm on 2D front and profile photographs, by extracting geometric and textural features, to help the practitioner carry out a diagnosis.

  through study completion, an average of 1 year

Secondary Outcomes (3)

• Carry out phenotype/genotype correlations to explain the phenotype of a particular genetic variant

  through study completion, an average of 1 year

• Study the facial characteristics of a syndrome depending on ethnicity

  through study completion, an average of 1 year

• Study the facial characteristics of a syndrome depending on age

  through study completion, an average of 1 year

Study Arms (2)

Patients

Other: Clinical data reuse

Controls

Other: Clinical data reuse

Interventions

Clinical data reuse OTHER

Clinical data reuse

Controls; Patients

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

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

You may qualify if:

• 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.
• 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.
• 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.

Sponsors & Collaborators

• Imagine Institute: lead

Study Sites (1)

Necker - Hôpital des Enfants Malades

Paris, France

RECRUITING

MeSH Terms

Conditions

Congenital Abnormalities; Rare Diseases

Condition Hierarchy (Ancestors)

Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Central Study Contacts

Yasmine Ainouz, MD

CONTACT

+33 1 42 75 45 65; yasmine.ainouz@institutimagine.org

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: December 28, 2023
• First Posted: January 23, 2024
• Study Start: January 1, 2025
• Primary Completion (Estimated): March 1, 2028
• Study Completion (Estimated): March 1, 2028
• Last Updated: January 12, 2026

Record last verified: 2026-01

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)