Automatic Phenotyping of Patients on 2D Photography
Recruiting now
Conditions studied: Dysmorphia, Orphan Diseases, Dysmorphies Craniofaciales
In brief
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
Key facts
- Study ID
- NCT06219421
- Run by
- Imagine Institute
- People needed
- 22000
- Starts
- 2025-01-01
- Expected to finish
- 2028-03-01
- Last updated by the study team
- 2026-01-12
Who can join
Age: any. Sex: any. Healthy volunteers: not accepted.
Where it is running
- Necker - Hôpital des Enfants Malades — Paris, France (enrolling)
Full record on ClinicalTrials.gov
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