NCT06219421

Automatic Phenotyping of Patients on 2D Photography

• Status: Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 22,000 (estimated)
• Sponsor: Imagine Institute · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

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

Interventions

Type	Name	Description
OTHER	Clinical data reuse	Clinical data reuse

Timeline

• Start date: 2025-01-01
• Primary completion: 2028-03-01
• Completion: 2028-03-01
• First posted: 2024-01-23
• Last updated: 2026-01-12

Locations

1 site across 1 country: France