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Clinical Decision Support to Identify Pediatric Patients With Undiagnosed Genetic Disease

NCT06744543 · Status: ACTIVE_NOT_RECRUITING · Phase: NA · Type: INTERVENTIONAL · Enrollment: 1000

Last updated 2025-09-24

No results posted yet for this study

Summary

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.

Conditions

Interventions

DEVICE

SIGHT Prompted Provider Message

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.

Sponsors & Collaborators

  • Vanderbilt University Medical Center

    lead OTHER

Principal Investigators

  • Douglas Ruderfer, PhD · Vanderbilt University Medical Center

Study Design

Allocation
RANDOMIZED
Purpose
SCREENING
Masking
NONE
Model
PARALLEL

Eligibility

Min Age
1 Year
Max Age
20 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2025-03-12
Primary Completion
2027-01-01
Completion
2027-02-01

Countries

  • United States

Study Locations

More Related Trials

Entities

Diseases

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 NCT06744543 on ClinicalTrials.gov