Clinical Trial

Pediatric Neurogenetic Diagnosis Support Platform

Study acronym: DIAGEN-IA
Recruiting
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Record status
This record was last updated May 29, 2025 (before its estimated October 30, 2025 completion). Its status may not reflect the trial's current state.
Summary
This study evaluates a diagnostic support platform, DIAGEN-IA, designed to identify pediatric neurological diseases with a genetic basis. Conducted at Carlos Van Buren Hospital in Chile, it aims to determine if the platform reduces inappropriate referrals to clinical geneticists, improves diagnostic evaluations, enhances referral quality, and increases user satisfaction. A prospective before-and-after design will compare outcomes across two phases: baseline data collection and an intervention phase using DIAGEN-IA. Healthcare professionals will use the platform to guide referrals and diagnostic studies. Outcomes include referral appropriateness, completeness of evaluations, quality of referrals, and user satisfaction.
Protocol Amendment History 1 amendment
This ClinicalTrials.gov record has been amended once since 2024-12-05.
Trial Details
NCT Number NCT06725901
Lead Sponsor Universidad Nacional Andres Bello
Collaborators: Hospital Carlos Van Buren, Sociedad Chilena de Pediatría
Conditions Genetic Disease, Neurogenetic Disorders
Enrollment 9 participants
Start Date 2024-12-10
Primary Completion 2025-10-30 (estimated)
Study Completion 2025-12-30 (estimated)
Updated on ClinicalTrials.gov 2025-05-29