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Evaluating Face-Recognition Technology in Syndrome Diagnosis

Primary Purpose

Multiple Anomalies, Dysmorphic Features, Inborn Errors of Metabolism

Status
Completed
Phase
Not Applicable
Locations
United Kingdom
Study Type
Interventional
Intervention
Face2Gene
Sponsored by
Manchester University NHS Foundation Trust
About
Eligibility
Locations
Arms
Outcomes
Full info

About this trial

This is an interventional diagnostic trial for Multiple Anomalies

Eligibility Criteria

8 Months - undefined (Child, Adult, Older Adult)All SexesDoes not accept healthy volunteers

Inclusion Criteria:

- Patients attending routine genetic clinic/paediatric clinic appointments for diagnosis of a multiple anomaly syndrome where distinctive facial features form part of their presenting pattern.

OR:

- Biochemically or genetically confirmed diagnosis of inborn disorder of metabolism where no well described dysmorphic facial features are known to be associated with disorder

Exclusion Criteria:

  • Patients under 8 months of age where face-recognition technology has not been shown to be effective.
  • Patients who decline clinical photography as part of standard care.
  • Patients who do not wish to consent to participation in the study even though they consent to photos being taken for standard care.

Sites / Locations

  • Manchester University NHS Foundation Trust

Arms of the Study

Arm 1

Arm 2

Arm Type

Other

Other

Arm Label

Main Study

Faces Sub Study

Arm Description

Patients attending routine genetic clinic/paediatric clinic appointments for diagnosis of a multiple anomaly syndrome where distinctive facial features form part of their presenting pattern.

Patients eligible to be recruited to the Faces Sub Study will have biochemically or genetically confirmed diagnosis of inborn disorder of metabolism where no well described dysmorphic facial features are known to be associated with disorder.

Outcomes

Primary Outcome Measures

Number of diagnoses
The number of diagnoses of rare syndrome disorders made, measured after standard practice
Number of diagnoses
The number of diagnoses of rare syndrome disorders made, Measured after use of the Face2Gene app

Secondary Outcome Measures

Patient satisfaction
Level of satisfaction of parents with use of a face recognition system and with e-health approaches to genetic counselling and diagnosis in general. Measured via a patient experiences questionnaire that requires both quantitative and qualitative responses. The proportion of patients who found use of the software acceptable will be measured. There results will not be reported on a fixed scale.
Professional satisfaction
Level of satisfaction of professionals with use of a face recognition system. Measured via a colleagues experiences questionnaire that requires both quantitative and qualitative responses. The proportion of professionals who found using the software acceptable/helpful and would continue using the software in practice will be measured. There results will not be reported on a fixed scale.
Number of syndromes
Number of syndromes identified where face recognition software has facilitated genetic investigation.

Full Information

First Posted
December 3, 2020
Last Updated
January 13, 2021
Sponsor
Manchester University NHS Foundation Trust
Collaborators
FDNA Inc.
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1. Study Identification

Unique Protocol Identification Number
NCT04709965
Brief Title
Evaluating Face-Recognition Technology in Syndrome Diagnosis
Official Title
Evaluating the Clinical Utility of Face-Recognition Technology in Syndrome Diagnosis
Study Type
Interventional

2. Study Status

Record Verification Date
January 2021
Overall Recruitment Status
Completed
Study Start Date
January 30, 2018 (Actual)
Primary Completion Date
November 25, 2020 (Actual)
Study Completion Date
November 25, 2020 (Actual)

3. Sponsor/Collaborators

Responsible Party, by Official Title
Sponsor
Name of the Sponsor
Manchester University NHS Foundation Trust
Collaborators
FDNA Inc.

4. Oversight

Studies a U.S. FDA-regulated Drug Product
No
Studies a U.S. FDA-regulated Device Product
No
Data Monitoring Committee
No

5. Study Description

Brief Summary
Birth defects are relatively common, occurring in 1 in 40 live born babies. They can be single, or multiple. They may occur as part of multiple malformation syndromes, often in association with growth disturbance or intellectual disability. Over 7000 rare syndromes have been identified. Thus, though they are rare they are collectively important. Understanding how a multiple malformation syndrome came about, defining what investigations and health surveillance is needed for affected children and identifying whether there is a treatment is very important for parents and professionals caring for affected children and also for genetic counselling of their extended families, since the majority will have a genetic basis. Diagnosis of these rare disorders is therefore important,but as many syndromes are rare this can be extremely difficult and requires specialist knowledge, many investigations and many hospital appointments. This study aims to determine whether using face-recognition software can improve diagnosis of rare syndromes when used in addition to current routine practice.
Detailed Description
Clinicians see over 2000 patients per year who have rare syndromes in Manchester NHS clinics. In the majority of these individuals the cause is unknown. Many will have a genetic cause, but knowing which genes to test and being able to access these tests is difficult. When a patient comes to the clinic, details of their medical and developmental history are collected , and they are examined in detail to look at their investigation results. New tests may also be ordered for patients. In many cases, subtle differences in physical features, especially facial features may provide an important clue to the underlying diagnosis. However, because many of the conditions seen are so rare and doctors may not have seen that particular condition before, the diagnosis may not be made immediately at the appointment. In those cases, permission will be sought to take photographs so that further opinions can be sought within the department or by sharing with national and sometimes international colleagues. This is routine practice. Where consent has been obtained for photos, these are then first reviewed in a departmental case-review meeting. They may then also be presented at regional, national or even international meetings aimed at syndrome diagnosis with patient consent. The study aims to recruit patients who are attending clinics for syndrome diagnosis, and who have differences in their facial features. Such patients will undergo a full routine diagnostic work-up as outlined above. Following that, if patients have consented to having photographs taken as part of standard care, they will be asked if they would consent to upload of the facial photographs to a digital face recognition system, along with upload of a list of key clinical features, to see which diagnoses are suggested by this software. A group of Inherited Metabolic Disease patients with known diagnoses will be included under the Faces sub-study to establish whether the technology may help to define their phenotype. This group of patients would be asked to send photos to the research team either by email via a secure email address or by post. The study would request one facial photo of each of the biological parents (where applicable and available). There will first of all be routine discussion of patients and photographs in a case review meeting as per standard practice. Differential diagnoses will be formulated and recorded based on this. Following this, the facial photo will be uploaded to a face recognition system and suggested diagnoses from this recorded. Any diagnostic suggestions considered worthy of investigation will be followed up in line with standard practice. The investigators will then determine whether this was made a) in the standard way b) only suggested by the face recognition software or c) utilising the two methods together. Patients will be followed up to see if a final diagnosis is confirmed. The patient/parents will also be sent a questionnaire by email or post 6 months after recruitment. The questionnaire will ask if they had any concerns about using FDNA, if they found it helpful and if so in what way. Another questionnaire to professionals will collect information on how easy they found it to use, how helpful they found it ranging 1-5, did it alter patient management, if so how, and other comments . The investigators will document whether utilising the software helped to arrive at an earlier diagnosis, whether it impeded the diagnosis by providing misleading or incorrect guidance, whether parents and professionals found its use acceptable and whether it impacted on the patient's management.

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Multiple Anomalies, Dysmorphic Features, Inborn Errors of Metabolism

7. Study Design

Primary Purpose
Diagnostic
Study Phase
Not Applicable
Interventional Study Model
Parallel Assignment
Masking
None (Open Label)
Allocation
Non-Randomized
Enrollment
111 (Actual)

8. Arms, Groups, and Interventions

Arm Title
Main Study
Arm Type
Other
Arm Description
Patients attending routine genetic clinic/paediatric clinic appointments for diagnosis of a multiple anomaly syndrome where distinctive facial features form part of their presenting pattern.
Arm Title
Faces Sub Study
Arm Type
Other
Arm Description
Patients eligible to be recruited to the Faces Sub Study will have biochemically or genetically confirmed diagnosis of inborn disorder of metabolism where no well described dysmorphic facial features are known to be associated with disorder.
Intervention Type
Diagnostic Test
Intervention Name(s)
Face2Gene
Intervention Description
This study investigates whether a new diagnostic intervention (Face2Gene facial recognition software) is better than using standard approach to diagnosis.
Primary Outcome Measure Information:
Title
Number of diagnoses
Description
The number of diagnoses of rare syndrome disorders made, measured after standard practice
Time Frame
through study completion, an average of 2 years
Title
Number of diagnoses
Description
The number of diagnoses of rare syndrome disorders made, Measured after use of the Face2Gene app
Time Frame
through study completion, an average of 2 years
Secondary Outcome Measure Information:
Title
Patient satisfaction
Description
Level of satisfaction of parents with use of a face recognition system and with e-health approaches to genetic counselling and diagnosis in general. Measured via a patient experiences questionnaire that requires both quantitative and qualitative responses. The proportion of patients who found use of the software acceptable will be measured. There results will not be reported on a fixed scale.
Time Frame
6 months after recruitment.
Title
Professional satisfaction
Description
Level of satisfaction of professionals with use of a face recognition system. Measured via a colleagues experiences questionnaire that requires both quantitative and qualitative responses. The proportion of professionals who found using the software acceptable/helpful and would continue using the software in practice will be measured. There results will not be reported on a fixed scale.
Time Frame
24 months
Title
Number of syndromes
Description
Number of syndromes identified where face recognition software has facilitated genetic investigation.
Time Frame
24 months

10. Eligibility

Sex
All
Minimum Age & Unit of Time
8 Months
Accepts Healthy Volunteers
No
Eligibility Criteria
Inclusion Criteria: - Patients attending routine genetic clinic/paediatric clinic appointments for diagnosis of a multiple anomaly syndrome where distinctive facial features form part of their presenting pattern. OR: - Biochemically or genetically confirmed diagnosis of inborn disorder of metabolism where no well described dysmorphic facial features are known to be associated with disorder Exclusion Criteria: Patients under 8 months of age where face-recognition technology has not been shown to be effective. Patients who decline clinical photography as part of standard care. Patients who do not wish to consent to participation in the study even though they consent to photos being taken for standard care.
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Sofia Douzgou, MD PhD FRCP
Organizational Affiliation
Manchester University NHS Foundation Trust
Official's Role
Principal Investigator
Facility Information:
Facility Name
Manchester University NHS Foundation Trust
City
Manchester
State/Province
Greater Manchester
ZIP/Postal Code
M13 9WL
Country
United Kingdom

12. IPD Sharing Statement

Plan to Share IPD
No

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Evaluating Face-Recognition Technology in Syndrome Diagnosis

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