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Pediatric Neurogenetic Diagnosis Support Platform
Sponsor: Universidad Nacional Andres Bello
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.
Official title: Diagnostic Support Platform for the Identification of Pediatric Genetic Neurological Diseases Through a Machine Learning-Based Recommendation System
Key Details
Gender
All
Age Range
Any - Any
Study Type
INTERVENTIONAL
Enrollment
9
Start Date
2024-12-10
Completion Date
2025-12-30
Last Updated
2025-05-29
Healthy Volunteers
Yes
Conditions
Interventions
Web-Based Application
The intervention involves the DIAGEN-IA platform, a diagnostic support tool designed to identify pediatric neurological diseases with a genetic basis. Using a Bayesian network model and integrating ontologies such as ORDO, HPO, and HOOM, DIAGEN-IA links phenotypic data entered by physicians to suggested diagnoses and tests. Pediatric neurologists will be trained to use the platform during a 12-month intervention. DIAGEN-IA allows clinicians to input clinical and diagnostic data, generating differential diagnoses and recommended tests, with results exportable in PDF for integration into medical records. Platform usage will be tracked, including login frequency, time spent, and evaluations performed.
Locations (1)
Hospital Carlos Van Buren
Valparaíso, Región de Valparaíso, Chile