Pediatric Neurogenetic Diagnosis Support Platform

NCT06725901 | Recruiting

• 2 other identifiers: UNAB-006FONDEF ID23I10327
• Study Type: interventional
• Target: 9
• Locations: 1 country
• Sites: 1

Brief 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

Genetic Disease; Neurogenetic Disorders

Keywords

Neurogenetic disorders; Genetic disease; Pediatrics; Clinical Decision Support Systems; Referral and Consultation; Bayesian Network

Outcome Measures

Primary Outcomes (1)

• Proportion of Inappropriate Referrals

  The primary outcome of this study is the proportion of referrals deemed inappropriate by clinical geneticists. Appropriateness is assessed using a 5-point Likert scale, where referrals scoring 1 or 2 are classified as inappropriate. This evaluation considers all referral requests received during the study period, regardless of whether an in-person evaluation occurred.

  6 months

Secondary Outcomes (2)

• Completeness of Initial Diagnostic Evaluations

  6 months

• User Satisfaction

  1 and 6 months

Study Arms (1)

Web-Based Application

EXPERIMENTAL

The intervention involves the use of the DIAGEN-IA platform, a diagnostic support application designed to assist in identifying pediatric neurological diseases with a genetic basis. DIAGEN-IA employs a Bayesian network model, integrating ontologies such as ORDO, HPO, and HOOM to link phenotypic characteristics entered by physicians with suggested diagnoses and recommended tests. Participating pediatric neurologists will receive training to use the application during the 6-month intervention phase. The platform enables clinicians to input clinical data and complementary test results, generating a list of potential diagnoses and corresponding diagnostic tests. The results can be exported in PDF format for integration into the patient's medical record. Throughout the intervention, platform usage will be monitored, including login frequency, duration of use, and the number of evaluations performed.

Device: Web-Based Application

Interventions

Web-Based Application DEVICE

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.

Web-Based Application

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• Neuropediatricians working in the Carlos Van Buren Hospital.
• Participants providing care to pediatric patients (under 18 years of age).
• Native Spanish speakers or those with certified C1-level Spanish proficiency according to the Common European Framework of Reference for Languages.
• Professionals responsible for referring pediatric patients with suspected rare diseases to a clinical geneticist.

You may not qualify if:

• Refusal to participate.

Sponsors & Collaborators

• Universidad Nacional Andres Bello: lead
• Hospital Carlos Van Buren: collaborator
• Sociedad Chilena de Pediatría: collaborator

Study Sites (1)

Hospital Carlos Van Buren

Valparaíso, Región de Valparaíso, 2341131, Chile

RECRUITING

Related Links

• Study application website.

MeSH Terms

Conditions

Genetic Diseases, Inborn

Condition Hierarchy (Ancestors)

Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Nicole Nakousi-Capurro, MD

  Hospital Carlos Van Buren

  STUDY DIRECTOR

Central Study Contacts

Nicole Nakousi-Capurro, MD

CONTACT

2364000; nnakousi@gmail.com

Carla Taramasco, PhD

CONTACT

284 5904; carla.taramasco@unab.cl

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Masking Details: The data analyst will be masked to trial results.
• Purpose: DIAGNOSTIC
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Methodologist

Model Details: This is a before and after study.

Study Record Dates

• First Submitted: December 5, 2024
• First Posted: December 10, 2024
• Study Start: December 10, 2024
• Primary Completion: October 30, 2025
• Study Completion: December 30, 2025
• Last Updated: May 29, 2025

Record last verified: 2025-05

Locations

CL (1)