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NCT Number: NCT06219421

Automatic Phenotyping of Patients on 2D Photography

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

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Key information

Conditions

Dysmorphia Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease Attributes Dysmorphies Craniofaciales Orphan Diseases Pathologic Processes Pathological Conditions, Signs and Symptoms Rare Diseases

Sex eligibility

All sexes

Study type

Observational

Primary location

Necker - Hôpital des Enfants Malades

Paris, France

Location status: Recruiting

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Clinical Data reuse

Other

Clinical data reuse

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.

    Time frame: through study completion, an average of 1 year

    Learning an algorithm on 2D front and profile photographs, by extracting geometric and textural features, to help the practitioner carry out a diagnosis.

Secondary outcomes

  1. Carry out phenotype/genotype correlations to explain the phenotype of a particular genetic variant

    Time frame: through study completion, an average of 1 year

    Carry out phenotype/genotype correlations to explain the phenotype of a particular genetic variant

  2. 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 ethnicity

  3. Study the facial characteristics of a syndrome depending on age

    Time frame: through study completion, an average of 1 year

    Study the facial characteristics of a syndrome depending on age

Study contacts

Contact information is provided by the study sponsor or research team.

Yasmine Ainouz, MD

CONTACT

[email protected]

+33 1 42 75 45 65

Sponsors and collaborators

Lead sponsor

Imagine Institute

Other

Registry information

Acronym: AIDY2

Important dates

Study start
2025
Primary completion
2028
Study completion
2028
First posted
Jan 23, 2024
Registry last updated
Jan 12, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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