A platform to support pediatric neurogenetic diagnosis
Diagnostic Support Platform for the Identification of Pediatric Genetic Neurological Diseases Through a Machine Learning-Based Recommendation System
This study is testing a new tool to help doctors better diagnose genetic neurological diseases in children and see if it improves the quality of their referrals and evaluations.
Quick facts
| Phase | Not applicable |
|---|---|
| Study type | Interventional |
| Enrollment | 9 (estimated) |
| Sex | All |
| Sponsor | Universidad Nacional Andres Bello Academic / other |
| Locations | 1 site (Valparaíso, Valparaiso) |
| Trial ID | NCT06725901 on ClinicalTrials.gov |
What this trial studies
This study evaluates the DIAGEN-IA diagnostic support platform, which is designed to assist healthcare professionals in identifying pediatric neurological diseases with a genetic basis. Conducted at Carlos Van Buren Hospital in Chile, the study aims to reduce inappropriate referrals to clinical geneticists and improve the quality of diagnostic evaluations. It employs a prospective before-and-after design, comparing outcomes before and after the implementation of the platform. Key outcomes include referral appropriateness, completeness of evaluations, quality of referrals, and user satisfaction.
Who should consider this trial
Good fit: Ideal candidates for this study are healthcare providers, specifically neuropediatricians, who manage pediatric patients and are involved in referring cases to clinical geneticists.
Not a fit: Patients who are not under the care of participating healthcare professionals or those who do not have suspected neurogenetic disorders may not benefit from this study.
Why it matters
Potential benefit: If successful, this platform could streamline the diagnostic process for pediatric neurogenetic disorders, leading to more accurate and timely referrals.
How similar studies have performed: While the approach is innovative, similar studies evaluating diagnostic support platforms have shown promise in improving referral processes and diagnostic accuracy.
Eligibility criteria
Show full inclusion / exclusion 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.
Where this trial is running
Valparaíso, Valparaiso
- Hospital Carlos Van Buren — Valparaíso, Valparaiso, Chile (Recruiting)
Study contacts
- Study coordinator: Nicole Nakousi-Capurro, MD
- Email: nnakousi@gmail.com
- Phone: 2364000
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.