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NCT Number: NCT06744543

Clinical Decision Support to Identify Pediatric Patients With Undiagnosed Genetic Disease

This study will evaluate the effectiveness of SIGHT as a clinical support system to prompt provider/patient discussion and shared decision making regarding the need for genetic testing in the form of a chromosomal microarray. Identifying patients at high predicted probability of needing a test in clinical settings will be examined to determine if it decreases the duration of time to testing and increases diagnostic yield. SIGHT requires only data already collected in routine clinical encounters and is calculated prior to a clinical visit at VUMC.

Active, Not Recruiting

This study is active but is not currently recruiting participants.

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Key information

Conditions

Genetic Disease Clinical Decision Support Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Pediatrics Predictive Model

Age range

1 year–20 year

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

Vanderbilt University Medical

Nashville, Tennessee, 37232, United States

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

SIGHT Prompted Provider Message

Device

Among patients surpassing a 0.30 probability threshold that have a scheduled visit to pediatric primary care at VUMC, 500 will be randomized to the intervention and a SIGHT-prompted provider message will be generated.

Primary outcomes

  1. Number of Diagnoses in the intervention arm compared to the control arm

    Time frame: 2 years

    Number of patients diagnosed via a Chromosomal Microarray.

Secondary outcomes

  1. Time to test

    Time frame: 2 years

    Duration of time to genetic testing. Time to event, measured from the initial patient visit to the time genetic testing is conducted.

  2. Abnormal CMA

    Time frame: 2 years

    Number of patients flagged by SIGHT who's CMA result returned abnormal but in the absence of diagnostic findings.

  3. Rate of genetic testing

    Time frame: 2 years

    Rates of genetic testing ordered by providers after a pediatric visit.

  4. Diagnosis via any test (molecular confirmation)

    Time frame: 2 years

    Number of patients flagged by SIGHT who receive a diagnosis via any molecular test.

Sponsors and collaborators

Lead sponsor

Vanderbilt University Medical Center

Other

Registry information

Official study title

Randomized Controlled Trial to Assess EHR Prediction Model to Identify Pediatric Patients With Undiagnosed Genetic Disease"

Acronym: SIGHT

Important dates

Study start
2025
Primary completion
2027
Study completion
2027
First posted
Dec 20, 2024
Registry last updated
Sep 24, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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