Automatic Phenotyping of Patients on 2D Photography
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeNot listed
SponsorImagine Institute
About this trial
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
This trial does not accept healthy volunteersQualifiers
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.
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).
Disqualifiers
None
Trial 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
Trial design
Design model
Cohort
Time perspective
Retrospective
Treatments tested in this trial
Clinical data reuse
Other interventionClinical data reuse
Treatment groups
22,000 Participants
are divided into 2 treatment groupsGroup A: Patients1 intervention
Group B: Controls1 intervention
Trial outcomes
Primary outcomes
1
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.
Time frame
through study completion, an average of 1 yearSecondary outcomes
1
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
Time frame
through study completion, an average of 1 year2
Study the facial characteristics of a syndrome depending on ethnicity
Study the facial characteristics of a syndrome depending on ethnicity
Time frame
through study completion, an average of 1 year3
Study the facial characteristics of a syndrome depending on age
Study the facial characteristics of a syndrome depending on age
Time frame
through study completion, an average of 1 yearSponsors and contacts
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Source ClinicalTrials.gov