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Search / Trial NCT06725901

Pediatric Neurogenetic Diagnosis Support Platform

Launched by UNIVERSIDAD NACIONAL ANDRES BELLO · Dec 5, 2024

Trial Information

Current as of June 27, 2025

Recruiting

Keywords

Neurogenetic Disorders Genetic Disease Pediatrics Clinical Decision Support Systems Referral And Consultation Bayesian Network

ClinConnect Summary

The Pediatric Neurogenetic Diagnosis Support Platform trial is studying a new tool called DIAGEN-IA, which helps doctors identify genetic causes of neurological issues in children. This trial, taking place at Carlos Van Buren Hospital in Chile, aims to see if this platform can make the process of referring patients to genetic specialists better. By comparing results before and after using DIAGEN-IA, researchers want to find out if it reduces unnecessary referrals, improves the thoroughness of evaluations, and increases overall satisfaction for healthcare professionals.

To participate, doctors must be neuropediatricians working at the hospital and care for children under 18. They should also be fluent in Spanish. Those who agree to join will use the DIAGEN-IA platform to assist in their referrals and will help researchers understand its effectiveness. This trial is currently recruiting participants, and it’s important for eligible doctors to know that their involvement could lead to improved care for children with rare genetic diseases.

Gender

ALL

Eligibility criteria

  • Inclusion Criteria:
  • 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.
  • Exclusion Criteria:
  • Refusal to participate.

About Universidad Nacional Andres Bello

The Universidad Nacional Andrés Bello (UNAB) is a distinguished higher education institution in Chile, recognized for its commitment to advancing research and innovation in the health sciences. With a strong emphasis on interdisciplinary collaboration, UNAB actively sponsors clinical trials aimed at enhancing medical knowledge and improving patient outcomes. The university leverages its extensive network of experts and state-of-the-art facilities to conduct rigorous research that addresses pressing healthcare challenges, ensuring adherence to ethical standards and regulatory compliance throughout the trial process. Through its initiatives, UNAB aims to contribute significantly to the global medical community and foster advancements in clinical practice.

Locations

Valparaíso, , Chile

Patients applied

0 patients applied

Trial Officials

Nicole Nakousi-Capurro, MD

Study Director

Hospital Carlos Van Buren

Timeline

First submit

Trial launched

Trial updated

Estimated completion

Not reported