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AI tool aims to unmask genetic diseases in kids faster

NCT ID NCT06744543

Knowledge-focused Sponsor: Vanderbilt University Medical Center Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing This study
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 25, 2026 · Last updated Jun 26, 2026 · Updated 2 times

Summary

This study tests a computer program called SIGHT that uses information already in a child's medical records to predict if they might have an undiagnosed genetic disease. Researchers will randomly assign 1,000 children visiting their pediatrician to either have their doctor receive a SIGHT alert or not. The goal is to see if the tool helps doctors order genetic tests sooner and find more diagnoses.

What this could mean

Our plain-language read of the trial. This is informational only, not medical advice or a prediction.

Active substance
SIGHT prediction model (software tool)
What this could lead to
If successful, this tool could help doctors spot children with hidden genetic diseases earlier, leading to faster diagnosis and better care.
What could go wrong
This is a relatively small, early-stage study testing a prediction model, not a treatment. The tool may not work as expected or may not be adopted widely.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Phase

Not a phased trial

Phase numbers describe drug development. The registry uses this when they do not apply, as it does for trials of devices, procedures or behaviour changes, and for observational studies.

Participants

About 1,000 people

The number the study aims to enrol. It can still change while the study runs.

Started

Mar 2025

Expected to finish

Feb 2027

An estimate. End dates often move.

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Ages

1 year to 20 years

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

Inclusion Criteria: * All patients \> 1 year old, \< 20 years of age with a scheduled visit to the VUMC pediatric primary care. Exclusion Criteria: * Patients who have been programmatically excluded due to having already received a chromosomal microarray at VUMC and patients \> 20 years of age or \< 1 year of age.

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Conditions

The condition(s) this trial relates to.

hereditary disease

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Clinical decision support Genetic disease Pediatrics Predictive model

Contacts and locations

Locations

  • Vanderbilt University Medical

    Nashville, Tennessee, 37232, United States

More trials for these conditions

Other studies related to the condition(s) this trial covers.