Automatic Phenotyping of Patients on 2D Photography (AIDY2)

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

Study Overview

• Status: Not yet recruiting
• Conditions: Dysmorphia; Orphan Diseases
• Intervention / Treatment: Other: Clinical data reuse

• Study Type: Observational
• Enrollment (Estimated): 22000

Contacts and Locations

• Study Contact: Name: Yasmine Ainouz, MD; Email: yasmine.ainouz@institutimagine.org

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• 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

Description

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.

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Controls	Other: Clinical data reuse; Clinical data reuse
Patients	Other: Clinical data reuse; Clinical data reuse

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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 Outcome Measures

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

Collaborators and Investigators

• Sponsor: Imagine Institute

Study record dates

Study Major Dates

• Study Start (Estimated): March 1, 2024
• Primary Completion (Estimated): March 1, 2028
• Study Completion (Estimated): March 1, 2028

Study Registration Dates

• First Submitted: December 28, 2023
• First Submitted That Met QC Criteria: January 12, 2024
• First Posted (Actual): January 23, 2024

Study Record Updates

• Last Update Posted (Actual): January 23, 2024
• Last Update Submitted That Met QC Criteria: January 12, 2024
• Last Verified: January 1, 2024

More Information

Terms related to this study

• Keywords: artificial intelligence
• Additional Relevant MeSH Terms: Pathologic Processes; Disease Attributes; Rare Diseases
• Other Study ID Numbers: AIDY 2

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No