NCT04709965

Evaluating Face-Recognition Technology in Syndrome Diagnosis

Completed NA Last updated 14 January 2021

What this trial tests

NA trial testing Face2Gene in Multiple Anomalies in 111 participants. Completed in 25 November 2020.

Timeline

30 January 2018

Primary endpoint
25 November 2020

25 November 2020

Quick facts

Lead sponsor	Manchester University NHS Foundation Trust
Phase	NA
Status	Completed
Study type	INTERVENTIONAL
Allocation	non randomized
Design	parallel
Masking	none
Primary purpose	diagnostic
Enrollment	111
Start date	30 January 2018
Primary completion	25 November 2020
Estimated completion	25 November 2020
Sites	1 location across United Kingdom

Drugs / interventions tested

• Face2Gene

Conditions studied

• Multiple Anomalies — all drugs for Multiple Anomalies →
• Dysmorphic Features — all drugs for Dysmorphic Features →
• Inborn Errors of Metabolism — all drugs for Inborn Errors of Metabolism →

Sponsor

Manchester University NHS Foundation Trust

Who can join

8 Months and older, any sex, with Multiple Anomalies or Dysmorphic Features. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

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.

Publications & conference data

No peer-reviewed publications indexed yet for this trial. Completed trials usually publish results within 12-18 months.