Automatic Phenotyping of Patients on 2D Photography

Orphan Diseases Clinical Trial

— AIDY2  

Official title:

Automatic Phenotyping of Patients on 2D Photography

Clinical Trial Details — Status: Not yet recruiting

Administrative data

• NCT number: NCT06219421
• Other study ID #: AIDY 2
• Status: Not yet recruiting
• Start date: March 1, 2024
• Est. completion date: March 1, 2028

Study information

• Verified date: January 2024
• Source: Imagine Institute
• Contact: Yasmine Ainouz, MD
• Email: yasmine.ainouz[@]institutimagine.org
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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

Recruitment information / eligibility

• Status: Not yet recruiting
• Enrollment: 22000
• Est. completion date: March 1, 2028
• Est. primary completion date: March 1, 2028
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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.

Related Conditions & MeSH terms

• Dysmorphia
• Orphan Diseases
• Rare Diseases

Intervention

Other:
• Clinical data reuse
Clinical data reuse

Locations

Country	Name	City	State
n/a

Sponsors (1)

Lead Sponsor	Collaborator
Imagine Institute

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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	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
Secondary	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
Secondary	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