Characterization and Recognition of Genetic Diseases by Photography (AIDY)

There are around 8,000 rare diseases and new ones are described every month in the scientific literature. They affect a limited number of patients. Nearly 80% of these diseases have a genetic origin and 30 to 40% of them are associated with dysmorphia. The latter can be suspected by evaluating the morphological characteristics of the patient. This medical skill, called dysmorphology, which allows a diagnosis to be made by evaluating the morphological characteristics of a patient, is based on experience. Diagnosis is often easy for relatively common diseases, but more difficult for rarer pathologies affecting few patients and often described in a single ethnicity and age of life.

The study aims to create a dataset specific to the application of methods from artificial intelligence. Extending the methodologies described to profile and extremity photographs will allow better recognition and description of dysmorphia.

This will allow to make diagnostic suggestions by comparison with the database. The Data Science team has already explored the notion of phenotypic similarity of patients.

Jean Feydy is a mathematician expert in image analysis and will ensure the scientific robustness of the study methods.

This project will conclude with the establishment of a diagnostic aid tool, integrating research results for doctors with a particular interest in developmental anomalies and intellectual disability.

Study Overview

• Status: Completed
• Conditions: Orphan Diseases; Dysmorphology
• Intervention / Treatment: Other: Clinical Data reuse

• Study Type: Observational
• Enrollment (Actual): 935

Contacts and Locations

Study Locations

• France
  • Paris, France
    • Necker Enfants malades hospital

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Recruitment will be carried out in the departments of medical genetics, maxillofacial surgery and plastic surgery and neurosurgery (functional craniofacial surgery unit) of the Necker Enfants Malades Hospital.

Description

The patient inclusion criteria are:

• Patients having a medical genetics, maxillofacial surgery, or craniofacial surgery consultation as part of the management of a rare disease (in France, disease affecting less than 30,000 people) associated with dysmorphia at the level of the head or neck (area from the vertex to the clavicles): hypotelorism, hypertelorism, exophthalmos, brachycephaly, anterior plagiocephaly, micrognathia, microretrognathia, prognathia, low ear, oblique eyelid fissures above, oblique eyelid fissures below, narrow eyelid fissures , small mouth, anteverted nostrils, short nose, broad nose tip, broad nose bridge, prominent nose bridge.
• Patients with a confirmed diagnosis of one of the following pathologies: Noonan, 22q11.2 deletion, Crouzon, Kabuki, Pitt Hopkins, Mowat Wilson, Cornelia de Lange, Treacher-Collins, Goldenhar or by Silver-Russel
• Patients for whom photographs of the face and/or hands are taken as part of their treatment

The inclusion criteria for control subjects are:

• Patients having a maxillofacial surgery consultation, as part of the management of a disease other than a rare disease associated with dysmorphia in the head or neck: acute pathology (wound) or chronic (gynecomastia).
• Patients for whom photographs of the face and/or hands 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.

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.

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Controls	Other: Clinical Data reuse; Clinical Data reuse
Patients	Other: Clinical Data reuse; Clinical Data reuse

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Relationship between phenotypic characteristics and genotype in rare pathologies associated with dysmorphia	Relationship between phenotypic characteristics (based on photographs landmarks) of the face and hand from rare pathologies associated with dysmorphia and genotype.	through study completion, an average of 1 year

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Creation of a database of landmark photographs taken as part of care and including all patients seen in consultation	Creation of a database of landmark photographs taken as part of care and including all patients seen in consultation	through study completion, an average of 1 year
Training an algorithm using collected data for diagnostic purposes	Training an algorithm using collected data to develop a dysmorphological diagnosis aid tool which could be particularly useful in situations of uncommon diseases where the clinician has not yet acquired the necessary expertise to make a diagnosis.	through study completion, an average of 1 year

Collaborators and Investigators

• Sponsor: Imagine Institute

Study record dates

Study Major Dates

• Study Start (Actual): January 2, 2022
• Primary Completion (Actual): January 2, 2024
• Study Completion (Actual): January 2, 2024

Study Registration Dates

• First Submitted: December 28, 2023
• First Submitted That Met QC Criteria: January 23, 2024
• First Posted (Actual): January 25, 2024

Study Record Updates

• Last Update Posted (Actual): January 25, 2024
• Last Update Submitted That Met QC Criteria: January 23, 2024
• Last Verified: January 1, 2024

More Information

Terms related to this study

• Keywords: artificial intelligence
• Additional Relevant MeSH Terms: Pathologic Processes; Disease Attributes; Genetic Diseases, Inborn; Rare Diseases
• Other Study ID Numbers: AIDY

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No