Characterization and Recognition of Genetic Diseases by Photography

NCT06225141 | Completed

• 1 other identifier: AIDY
• Study Type: observational
• Target: 935
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Dysmorphology; Orphan Diseases

Keywords

artificial intelligence

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (2)

• 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

  through study completion, an average of 1 year

Study Arms (2)

Patients

Other: Clinical Data reuse

Controls

Other: Clinical Data reuse

Interventions

Clinical Data reuse OTHER

Clinical Data reuse

Controls; Patients

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• 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
• 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
• Patients who have undergone facial or skull surgery before the first photo was taken.
• Person subject to a judicial safeguard measure.
• 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.

Sponsors & Collaborators

• Imagine Institute: lead

Study Sites (1)

Necker enfants malades Hospital

Paris, France

Location

MeSH Terms

Conditions

Rare Diseases

Condition Hierarchy (Ancestors)

Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: December 28, 2023
• First Posted: January 25, 2024
• Study Start: January 2, 2022
• Primary Completion: January 2, 2024
• Study Completion: January 2, 2024
• Last Updated: January 25, 2024

Record last verified: 2024-01

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)