Characterization and Recognition of Genetic Diseases by Photography

Orphan Diseases Clinical Trial

— AIDY  

Official title:

Characterization and Recognition of Genetic Diseases by Photography

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT06225141
• Other study ID #: AIDY
• Status: Completed
• Start date: January 2, 2022
• Est. completion date: January 2, 2024

Study information

• Verified date: January 2024
• Source: Imagine Institute
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 935
• Est. completion date: January 2, 2024
• Est. primary completion date: January 2, 2024
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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.

Related Conditions & MeSH terms

• Genetic Diseases, Inborn
• Orphan Diseases
• Rare Diseases

Intervention

Other:
• Clinical Data reuse
Clinical Data reuse

Locations

Country	Name	City	State
France	Necker enfants malades Hospital	Paris

Sponsors (1)

Lead Sponsor	Collaborator
Imagine Institute

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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	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
Secondary	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