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Digital Dysmorphology Project

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ClinicalTrials.gov Identifier: NCT02651493
Recruitment Status : Recruiting
First Posted : January 11, 2016
Last Update Posted : January 4, 2019
Sponsor:
Collaborators:
Children's Research Institute
George Washington University
Chiang Mai University
Information provided by (Responsible Party):
Kevin Cleary, Children's Research Institute

Tracking Information
First Submitted Date  ICMJE October 22, 2015
First Posted Date  ICMJE January 11, 2016
Last Update Posted Date January 4, 2019
Study Start Date  ICMJE February 2013
Estimated Primary Completion Date December 2023   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures  ICMJE
 (submitted: January 7, 2016)
  • Number of participants with Down syndrome accurately assessed by computer-aided detection (CADe) tool [ Time Frame: 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 90% accuracy.
  • Number of participants with Down syndrome accurately assessed by computer-aided detection (CADe) tool [ Time Frame: 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.
Original Primary Outcome Measures  ICMJE Same as current
Change History Complete list of historical versions of study NCT02651493 on ClinicalTrials.gov Archive Site
Current Secondary Outcome Measures  ICMJE
 (submitted: January 7, 2016)
  • Number of participants with other dysmorphic syndromes accurately assessed by computer-aided detection (CADe) tool [ Time Frame: 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 90% accuracy.
  • Number of participants with other dysmorphic syndromes accurately assessed by computer-aided detection (CADe) tool [ Time Frame: 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.
Original Secondary Outcome Measures  ICMJE Same as current
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title  ICMJE Digital Dysmorphology Project
Official Title  ICMJE Down Syndrome Detection From Facial Photographs Using Machine Learning Techniques
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 Type  ICMJE Interventional
Study Phase  ICMJE Not Applicable
Study Design  ICMJE Allocation: Non-Randomized
Intervention Model: Parallel Assignment
Masking: None (Open Label)
Primary Purpose: Health Services Research
Condition  ICMJE Down Syndrome
Intervention  ICMJE Device: photographs
computer based program to analyze photographs (computer-aided diagnosis (CAD) software)
Study Arms  ICMJE
  • Active Comparator: Down syndrome
    photographs of individuals less than 18 yo with Down syndrome
    Intervention: Device: photographs
  • Active Comparator: Control group
    photographs of individuals less than 18 yo with a genetic referral (not Down syndrome) or a healthy sibling to a child with Down syndrome
    Intervention: Device: photographs
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status  ICMJE Recruiting
Estimated Enrollment  ICMJE
 (submitted: January 7, 2016)
750
Original Estimated Enrollment  ICMJE Same as current
Estimated Study Completion Date  ICMJE December 2023
Estimated Primary Completion Date December 2023   (Final data collection date for primary outcome measure)
Eligibility Criteria  ICMJE

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.
Sex/Gender  ICMJE
Sexes Eligible for Study: All
Ages  ICMJE up to 18 Years   (Child, Adult)
Accepts Healthy Volunteers  ICMJE Yes
Contacts  ICMJE
Contact: Sara Alyamani, BS 202 476 6099 salyaman@childrensnational.org
Contact: Marius Linguraru, PhD 202 476 3059 MLingura@childrensnational.org
Listed Location Countries  ICMJE United States
Removed Location Countries  
 
Administrative Information
NCT Number  ICMJE NCT02651493
Other Study ID Numbers  ICMJE Pro00003506.
Has Data Monitoring Committee No
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement  ICMJE Not Provided
Responsible Party Kevin Cleary, Children's Research Institute
Study Sponsor  ICMJE Kevin Cleary
Collaborators  ICMJE
  • Children's Research Institute
  • George Washington University
  • Chiang Mai University
Investigators  ICMJE
Principal Investigator: Kevin Cleary, PhD Children's National
PRS Account Children's Research Institute
Verification Date January 2019

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP