Clinical trial NCT06219421: Automatic Phenotyping of Patients on 2D Photography
Official title: Automatic Phenotyping of Patients on 2D Photography
Study type: OBSERVATIONAL
Overall status: NOT_YET_RECRUITING
Conditions: Dysmorphia
Orphan Diseases
Keywords: artificial intelligence
Lead sponsor: Imagine Institute
Sponsor class: OTHER
First posted: 2024-01-23
Enrollment: 22000
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: RETROSPECTIVE
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

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


Eligibility criteria: 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.

Primary outcomes:
measure: Learning an algorithm on 2D front and profile photographs, by extracting geometric and textural features, to help the practitioner carry out a diagnosis.
timeFrame: through study completion, an average of 1 year
Secondary outcomes:
measure: Carry out phenotype/genotype correlations to explain the phenotype of a particular genetic variant
timeFrame: through study completion, an average of 1 year
measure: Study the facial characteristics of a syndrome depending on ethnicity
timeFrame: through study completion, an average of 1 year
measure: Study the facial characteristics of a syndrome depending on age
timeFrame: through study completion, an average of 1 year
Other outcomes:
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Study officials:
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