NCT06725901 Pediatric Neurogenetic Diagnosis Support Platform
| NCT ID | NCT06725901 |
| Status | Recruiting |
| Phase | — |
| Sponsor | Universidad Nacional Andres Bello |
| Condition | Genetic Disease |
| Study Type | INTERVENTIONAL |
| Enrollment | 9 participants |
| Start Date | 2024-12-10 |
| Primary Completion | 2025-10-30 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
You will actively receive the study intervention — which may be a drug, biologic, device, or procedure.
This trial targets 9 participants in total. It began in 2024-12-10 with a primary completion date of 2025-10-30.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
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.
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.
Contact & Investigator
Nicole Nakousi-Capurro, MD
STUDY DIRECTOR
Hospital Carlos Van Buren
Frequently Asked Questions
Who can join the NCT06725901 clinical trial?
This trial is open to participants of all sexes, studying Genetic Disease. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT06725901 currently recruiting?
Yes, NCT06725901 is actively recruiting participants. Contact the research team at nnakousi@gmail.com for enrollment information.
Where is the NCT06725901 trial being conducted?
This trial is being conducted at Valparaíso, Chile.
Who is sponsoring the NCT06725901 clinical trial?
NCT06725901 is sponsored by Universidad Nacional Andres Bello. The principal investigator is Nicole Nakousi-Capurro, MD at Hospital Carlos Van Buren. The trial plans to enroll 9 participants.