Actively Recruiting
Pediatric Neurogenetic Diagnosis Support Platform
Led by Universidad Nacional Andres Bello · Updated on 2025-05-29
9
Participants Needed
1
Research Sites
55 weeks
Total Duration
On this page
Sponsors
U
Universidad Nacional Andres Bello
Lead Sponsor
H
Hospital Carlos Van Buren
Collaborating Sponsor
AI-Summary
What this Trial Is About
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.
CONDITIONS
Official Title
Pediatric Neurogenetic Diagnosis Support Platform
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Neuropediatricians working in the Carlos Van Buren Hospital.
- Providing care to pediatric patients (under 18 years of age).
- Native Spanish speakers or those with certified C1-level Spanish proficiency.
- Responsible for referring pediatric patients with suspected rare diseases to a clinical geneticist.
You will not qualify if you...
- Refusal to participate.
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
Hospital Carlos Van Buren
Valparaíso, Valparaiso, Chile, 2341131
Actively Recruiting
Research Team
N
Nicole Nakousi-Capurro, MD
CONTACT
C
Carla Taramasco, PhD
CONTACT
How is the study designed?
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
NA
Model
SINGLE_GROUP
Primary Purpose
DIAGNOSTIC
Number of Arms
1
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