Status:

COMPLETED

Evaluating Face-Recognition Technology in Syndrome Diagnosis

Lead Sponsor:

Manchester University NHS Foundation Trust

Collaborating Sponsors:

FDNA Inc.

Conditions:

Multiple Anomalies

Dysmorphic Features

Eligibility:

All Genders

8+ years

Phase:

NA

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...

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 whi...

Eligibility Criteria

Inclusion

  • \- 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

  • 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.

Key Trial Info

Start Date :

January 30 2018

Trial Type :

INTERVENTIONAL

Allocation :

ACTUAL

End Date :

November 25 2020

Estimated Enrollment :

111 Patients enrolled

Trial Details

Trial ID

NCT04709965

Start Date

January 30 2018

End Date

November 25 2020

Last Update

January 14 2021

Active Locations (1)

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1

Manchester University NHS Foundation Trust

Manchester, Greater Manchester, United Kingdom, M13 9WL