MedTrace Logo

Pediatric Neurogenetic Diagnosis Support Platform

NCT06725901 · Status: RECRUITING · Phase: NA · Type: INTERVENTIONAL · Enrollment: 9

Last updated 2025-05-29

No results posted yet for this study

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.

Conditions

Interventions

DEVICE

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.

Sponsors & Collaborators

  • Hospital Carlos Van Buren

    collaborator OTHER

  • Sociedad Chilena de Pediatría

    collaborator UNKNOWN

  • Universidad Nacional Andres Bello

    lead OTHER

Principal Investigators

  • Nicole Nakousi-Capurro, MD · Hospital Carlos Van Buren

Study Design

Allocation
NA
Purpose
DIAGNOSTIC
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2024-12-10
Primary Completion
2025-10-30
Completion
2025-12-30

Countries

  • Chile

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06725901 on ClinicalTrials.gov