Characterization and Recognition of Genetic Diseases by Photography

Completed

• Conditions: Orphan Diseases; Dysmorphology
• Interventions: Other: Clinical Data reuse

• Registration Number: NCT06225141
• Lead Sponsor: Imagine Institute

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.

Detailed Description

Not available

Study Timeline

• Study Start: 2022-01-02
• Study First Submitted: 2023-12-28
• Status Verified: 2024-01
• Primary Completion: 2024-01-02
• Study Completion: 2024-01-02
• Study First Submitted QC: 2024-01-23
• Last Update Submitted: 2024-01-23
• Study First Posted: 2024-01-25
• Last Update Posted: 2024-01-25

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 935

Inclusion Criteria

Not provided

Exclusion Criteria

Not provided

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Patients	Clinical Data reuse	-
Controls	Clinical Data reuse	-

Primary Outcome Measures

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

Secondary Outcome Measures

Name	Time	Method
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	Creation of a database of landmark photographs taken as part of care and including all patients seen in consultation
Training an algorithm using collected data for diagnostic purposes	through study completion, an average of 1 year	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.

Trial Locations

Locations (1)

Necker enfants malades Hospital; 🇫🇷 Paris, France