Down SyndromeNCT02651493
Digital Dysmorphology Project
A study testing photographs in people with Down Syndrome, run by Kevin Cleary at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages Up to 18 yearsHealthy volunteers can take part
- Conditions the study is for
- Down Syndrome
- What is being tested?
- photographs
- Type of treatment
- Medical device
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 750 participants
- Where
- 1 siteUnited States
- Study dates
- Feb 2013to Dec 2023
- Phase
- Interventional
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Up to 18 years
- All sexes
- Healthy volunteers accepted
- Child, Adult
Who may be able to join
- 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.
Who cannot join
- Subjects 18 years or older.
Trial locations and contacts
1 site in 1 country.
United States1 site, 1 recruiting
- Recruiting
Children's National
Washington D.C., District of Columbia, 20010
Sara Alyamani, BS, 202-476-6099, salyaman@childrensnational.org
Kevin Cleary, PhD, 202 476 3809, kcleary@childrensnational.org
About this study
Official title: Down Syndrome Detection From Facial Photographs Using Machine Learning Techniques
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.
Read the 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.
- Conditions
- Down Syndrome
- Being tested
- photographs
- Medical subject headings
- Down Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
photographsDevice
computer based program to analyze photographs (computer-aided diagnosis (CAD) software)
| Study group | Role | What they receive |
|---|---|---|
| Down syndrome | Active comparator | photographs of individuals less than 18 yo with Down syndrome Receives: 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 Receives: Device: photographs |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 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.
Measured: 5 years
Secondary outcomes (2)
Number of participants with other dysmorphic syndromes 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.
Measured: 5 years
Number of participants with other dysmorphic syndromes 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.
Measured: 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted11 Jan 2016 (estimated)
- Study startFeb 2013
- Primary completionDec 2023 (estimated)
- Study completionDec 2023 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Down SyndromeStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Health services research
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Enrolment
- 750 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Kevin Cleary
- Sponsor type
- University, hospital or other
- Collaborators
- Children's National Research Institute, George Washington University, Chiang Mai University
- Responsible party
- Sponsor-investigator, Kevin Cleary, Children's National Research Institute
- Investigators
- Kevin Cleary, PhD, Principal investigator, Children's National Research Institute
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02651493
- Sponsor's protocol ID
- Pro00003506.
- Status last verified
- Jan 2023
- First submitted
- 22 Oct 2015
- Last updated
- 1 Feb 2023
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 1 Feb 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Down Syndrome Detection From Facial Photographs Using Machine Learning Techniques
- ClinicalTrials.gov ID
- NCT02651493
- Acronym / sponsor ID
- Pro00003506.
- Conditions
- Down Syndrome
- Study type
- Interventional
- Recruitment status
- Unknown status
- Enrolment
- 750 participants (estimated)
- Lead sponsor
- Kevin ClearyUniversity, hospital or other
- Collaborators
- Children's National Research Institute, George Washington University, Chiang Mai University
- Study start
- Feb 2013
- Primary completion
- Dec 2023 (estimated)
- Study completion
- Dec 2023 (estimated)
- First posted
- 11 Jan 2016 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Primary purpose
- Health services research
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Down syndrome | Active comparator | Device: photographsphotographs of individuals less than 18 yo with Down syndrome |
| Control group | Active comparator | Device: photographsphotographs of individuals less than 18 yo with a genetic referral (not Down syndrome) or a healthy sibling to a child with Down syndrome |
Who may qualify
- Ages
- Up to 18 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult
Key inclusion criteria (3 listed)
- 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.
Key exclusion criteria (1 listed)
- Subjects 18 years or older.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| photographscomputer based program to analyze photographs (computer-aided diagnosis (CAD) software) | Device | Control group, Down syndrome |
Primary outcome
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.
2 secondary outcomes
Number of participants with other dysmorphic syndromes accurately assessed by computer-aided detection (CADe) tool
Time frame: 5 years
Number of participants with other dysmorphic syndromes accurately assessed by computer-aided detection (CADe) tool
Time frame: 5 years
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 1 Feb 2023.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Kevin Cleary, PhD principal investigator
Children's National Research Institute
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing photographs in people with Down Syndrome, run by Kevin Cleary at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 1 Feb 2023. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Kevin Cleary, PhD (202 476 3809, kcleary@childrensnational.org), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Number of participants with Down syndrome accurately assessed by computer-aided detection (CADe) tool (time frame: 5 years). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 1 Feb 2023.