Condition: Genetic Disease · Neurogenetic Disorders · Sponsor: Universidad Nacional Andres Bello
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.
This description comes directly from the study's public registry record.
Nicole Nakousi-Capurro, MD · 2364000 · nnakousi@gmail.com
Carla Taramasco, PhD · 284 5904 · carla.taramasco@unab.cl
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| Hospital Carlos Van Buren | Valparaíso, Valparaiso, Chile | Recruiting |
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Source record: clinicaltrials.gov/study/NCT06725901