Clinical Decision Support to Identify Pediatric Patients With Undiagnosed Genetic Disease

Not Applicable

Active, not recruiting

• Conditions: Genetic Disease; Pediatrics; Predictive Model; Clinical Decision Support

• Registration Number: NCT06744543
• Lead Sponsor: Vanderbilt University Medical Center

Brief 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.

Detailed Description

Not available

Study Timeline

• Study First Submitted: 2024-12-16
• Study First Submitted QC: 2024-12-16
• Study First Posted: 2024-12-20
• Status Verified: 2025-03
• Study Start: 2025-03-12
• Last Update Submitted: 2025-03-12
• Last Update Posted: 2025-03-14
• Primary Completion: 2027-02-01
• Study Completion: 2027-02-01

Recruitment & Eligibility

• Status: ACTIVE_NOT_RECRUITING
• Sex: All
• Target Recruitment: 1000

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.

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: PARALLEL

Primary Outcome Measures

Name	Time	Method
Number of Diagnoses in the intervention arm compared to the control arm	2 years	Number of patients diagnosed via a Chromosomal Microarray.

Secondary Outcome Measures

Name	Time	Method
Rate of genetic testing	2 years	Rates of genetic testing ordered by providers after a pediatric visit.
Diagnosis via any test (molecular confirmation)	2 years	Number of patients flagged by SIGHT who receive a diagnosis via any molecular test.
Time to test	2 years	Duration of time to genetic testing. Time to event, measured from the initial patient visit to the time genetic testing is conducted.
Abnormal CMA	2 years	Number of patients flagged by SIGHT who's CMA result returned abnormal but in the absence of diagnostic findings.

Trial Locations

Locations (1)

Vanderbilt University Medical; 🇺🇸 Nashville, Tennessee, United States