NCT02651493

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.

Trial Health

43
At Risk

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Trial has exceeded expected completion date
Enrollment
750

participants targeted

Target at P75+ for not_applicable

Timeline
Completed

Started Feb 2013

Longer than P75 for not_applicable

Geographic Reach
1 country

1 active site

Status
unknown

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

February 1, 2013

Completed
2.7 years until next milestone

First Submitted

Initial submission to the registry

October 22, 2015

Completed
3 months until next milestone

First Posted

Study publicly available on registry

January 11, 2016

Completed
7.9 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

December 1, 2023

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

December 1, 2023

Completed
Last Updated

February 1, 2023

Status Verified

January 1, 2023

Enrollment Period

10.8 years

First QC Date

October 22, 2015

Last Update Submit

January 31, 2023

Conditions

Down Syndrome

Outcome Measures

Primary Outcomes (2)

  • Number of participants with Down syndrome accurately assessed by computer-aided detection (CADe) tool

    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.

    5 years

  • Number of participants with Down syndrome accurately assessed by computer-aided detection (CADe) tool

    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.

    5 years

Secondary Outcomes (2)

  • Number of participants with other dysmorphic syndromes accurately assessed by computer-aided detection (CADe) tool

    5 years

  • Number of participants with other dysmorphic syndromes accurately assessed by computer-aided detection (CADe) tool

    5 years

Study Arms (2)

Down syndrome

ACTIVE COMPARATOR

photographs of individuals less than 18 yo with Down syndrome

Device: photographs

Control group

ACTIVE COMPARATOR

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

Device: photographs

Interventions

photographsDEVICE

computer based program to analyze photographs (computer-aided diagnosis (CAD) software)

Control groupDown syndrome

Eligibility Criteria

AgeUp to 18 Years
Sexall
Healthy VolunteersYes
Age GroupsChild (0-17), Adult (18-64)

You may qualify if:

  • 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.

You may not qualify if:

  • Subjects 18 years or older.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Children's National

Washington D.C., District of Columbia, 20010, United States

RECRUITING

MeSH Terms

Conditions

Down Syndrome

Interventions

Moire Topography

Condition Hierarchy (Ancestors)

Intellectual DisabilityNeurobehavioral ManifestationsNeurologic ManifestationsNervous System DiseasesAbnormalities, MultipleCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesChromosome DisordersGenetic Diseases, Inborn

Intervention Hierarchy (Ancestors)

PhotogrammetryPhotographyDiagnostic ImagingDiagnostic Techniques and ProceduresDiagnosisInterferometryInvestigative Techniques

Study Officials

  • Kevin Cleary, PhD

    Children's National Research Institute

    PRINCIPAL INVESTIGATOR

Central Study Contacts

Kevin Cleary, PhD

CONTACT

202 476 3809kcleary@childrensnational.org

Marius Linguraru, PhD

CONTACT

202 476 3059MLingura@childrensnational.org

Study Design

Study Type
interventional
Phase
not applicable
Allocation
NON RANDOMIZED
Masking
NONE
Purpose
HEALTH SERVICES RESEARCH
Intervention Model
PARALLEL
Sponsor Type
OTHER
Responsible Party
SPONSOR INVESTIGATOR
PI Title
PhD

Study Record Dates

First Submitted

October 22, 2015

First Posted

January 11, 2016

Study Start

February 1, 2013

Primary Completion

December 1, 2023

Study Completion

December 1, 2023

Last Updated

February 1, 2023

Record last verified: 2023-01

Locations

US(1)