Automatic Phenotyping of Patients on 2D Photography

Not yet recruiting

• Conditions: Orphan Diseases; Dysmorphia
• Interventions: Other: Clinical data reuse

• Registration Number: NCT06219421
• Lead Sponsor: Imagine Institute

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

Detailed Description

Not available

Study Timeline

• Study First Submitted: 2023-12-28
• Status Verified: 2024-01
• Study First Submitted QC: 2024-01-12
• Last Update Submitted: 2024-01-12
• Study First Posted: 2024-01-23
• Last Update Posted: 2024-01-23
• Study Start: 2024-03-01
• Primary Completion: 2028-03-01
• Study Completion: 2028-03-01

Recruitment & Eligibility

• Status: NOT_YET_RECRUITING
• Sex: All
• Target Recruitment: 22000

Inclusion Criteria

Not provided

Exclusion Criteria

Not provided

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Patients	Clinical data reuse	-
Controls	Clinical data reuse	-

Primary Outcome Measures

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

Secondary Outcome Measures

Name	Time	Method
Carry out phenotype/genotype correlations to explain the phenotype of a particular genetic variant	through study completion, an average of 1 year	Carry out phenotype/genotype correlations to explain the phenotype of a particular genetic variant
Study the facial characteristics of a syndrome depending on age	through study completion, an average of 1 year	Study the facial characteristics of a syndrome depending on age
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 ethnicity