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Evaluating Face-Recognition Technology in Syndrome Diagnosis

NCT04709965 · Status: COMPLETED · Phase: NA · Type: INTERVENTIONAL · Enrollment: 111

Last updated 2021-01-14

No results posted yet for this study

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.

Conditions

  • Multiple Anomalies
  • Dysmorphic Features
  • Inborn Errors of Metabolism

Interventions

DIAGNOSTIC_TEST

Face2Gene

This study investigates whether a new diagnostic intervention (Face2Gene facial recognition software) is better than using standard approach to diagnosis.

Sponsors & Collaborators

  • FDNA Inc.

    collaborator UNKNOWN

  • Manchester University NHS Foundation Trust

    lead OTHER_GOV

Principal Investigators

  • Sofia Douzgou, MD PhD FRCP · Manchester University NHS Foundation Trust

Study Design

Allocation
NON_RANDOMIZED
Purpose
DIAGNOSTIC
Masking
NONE
Model
PARALLEL

Eligibility

Min Age
8 Months
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2018-01-30
Primary Completion
2020-11-25
Completion
2020-11-25

Countries

  • United Kingdom

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04709965 on ClinicalTrials.gov