Automatic Phenotyping of Patients on 2D Photography
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: Clinical data reuse.
- Who it may be relevant to
- Registry conditions: Dysmorphia, Orphan Diseases, Dysmorphies Craniofaciales. Basic parameters: No limits · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- France
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Overview
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
Interventions
- Other Clinical data reuse
Clinical data reuse
Primary outcome measures
- 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 year]
Secondary outcome measures (3)
- Carry out phenotype/genotype correlations to explain the phenotype of a particular genetic variant [Time frame: through study completion, an average of 1 year]
- Study the facial characteristics of a syndrome depending on ethnicity [Time frame: through study completion, an average of 1 year]
- Study the facial characteristics of a syndrome depending on age [Time frame: through study completion, an average of 1 year]
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.
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
France · 1 center
- Necker - Hôpital des Enfants Malades — Paris
Identifiers
NCT: NCT06219421 · AIDY 2