A platform to support pediatric neurogenetic diagnosis

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

• Hospital Carlos Van Buren
  Valparaíso, Valparaiso, Chile Recruiting

Study contacts

• Study coordinator: Nicole Nakousi-Capurro, MD
• Email: nnakousi@gmail.com
• Phone: 2364000

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.