Digital Dysmorphology Project

Not Applicable

Recruiting

• Conditions: Down Syndrome
• Interventions: Device: photographs

• Registration Number: NCT02651493
• Lead Sponsor: Kevin Cleary

Brief Summary

In this study, the investigators propose a novel method to detect Down syndrome using photography for facial dysmorphology, a tool called computer-aided diagnosis (CAD). After validating the method, this technology will be expanded to perform similar functions to assist in the detection of other dysmorphic syndromes.

By using photography and image analysis this automated assessment tool would have the potential to improve the diagnosis rate and allow for remote, non-invasive diagnostic evaluation for dysmorphologists in a timely manner.

Detailed Description

In this study, investigators propose a novel method to detect Down syndrome using photography for facial dysmorphology, a tool called computer-aided diagnosis (CAD) . Local texture features based on Contourlet transform and local binary pattern are investigated to represent the facial characteristics. A support vector machine classifier is then used to discriminate between normal and abnormal cases. Accuracy, precision and recall are used to evaluate the method. After validating the method, this technology will then be expanded to perform similar functions to assist in the detection of other dysmorphic syndromes.

By using photography and image analysis this automated assessment tool would have the potential to improve the diagnosis rate and allow for remote, non-invasive diagnostic evaluation for dysmorphologists in a timely manner.

Study Timeline

• Study Start: 2013-02
• Study First Submitted: 2015-10-22
• Study First Submitted QC: 2016-01-07
• Study First Posted: 2016-01-11
• Status Verified: 2023-01
• Last Update Submitted: 2023-01-31
• Last Update Posted: 2023-02-01
• Primary Completion: 2023-12
• Study Completion: 2023-12

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 750

Inclusion Criteria

• Pediatric subject with Down syndrome.
• Healthy pediatric siblings of a subject with Down syndrome and/or other individuals with another genetic referral to serve as a control group.
• Subject must be less than 18 years old.

Exclusion Criteria

• Subjects 18 years or older.

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: PARALLEL

Arm && Interventions

Group	Intervention	Description
Control group	photographs	photographs of individuals less than 18 yo with a genetic referral (not Down syndrome) or a healthy sibling to a child with Down syndrome
Down syndrome	photographs	photographs of individuals less than 18 yo with Down syndrome

Primary Outcome Measures

Name	Time	Method
Number of participants with Down syndrome accurately assessed by computer-aided detection (CADe) tool	5 years	The study will enroll and analyze photographic data from syndromic and non-syndromic cases to investigate the parameters required to achieve an accuracy of the computer-aided detection (CADe) tool for children with genetic syndromes at a level of 95% accuracy.

Secondary Outcome Measures

Name	Time	Method
Number of participants with other dysmorphic syndromes accurately assessed by computer-aided detection (CADe) tool	5 years	The study will enroll and analyze photographic data from syndromic and non-syndromic cases to investigate the parameters required to achieve an accuracy of the computer-aided detection (CADe) tool for children with genetic syndromes at a level of 95% accuracy.

Trial Locations

Locations (1)

Children's National; 🇺🇸 Washington, District of Columbia, United States