Pediatric Neurogenetic Diagnosis Support Platform
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: Web-Based Application.
- Who it may be relevant to
- Registry conditions: Genetic Disease, Neurogenetic Disorders. Basic parameters: No limits · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- Chile
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Official title
Diagnostic Support Platform for the Identification of Pediatric Genetic Neurological Diseases Through a Machine Learning-Based Recommendation System
Overview
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.
Detailed description
This study aims to evaluate the DIAGEN-IA diagnostic support platform, developed to assist in the identification of pediatric neurological diseases with a genetic basis. The primary objective is to assess whether the platform reduces the proportion of inappropriate referrals to clinical geneticists. Secondary objectives include improving the completeness of initial diagnostic evaluations, enhancing the quality of referral requests, and evaluating user satisfaction with the platform.
The study will be conducted at Carlos Van Buren Hospital in Valparaíso, a high-complexity hospital serving over 486,000 individuals. Using a prospective before-and-after design, the study is divided into two phases. The initial 6-month phase will collect baseline data on referrals, their appropriateness, and the completeness of initial diagnostic evaluations. Interobserver variability among geneticists will also be analyzed. In the 6-month intervention phase, healthcare professionals will use DIAGEN-IA during consultations, and the same outcomes will be reassessed.
Participants include healthcare providers from primary and secondary care centers who manage pediatric patients and are responsible for referring cases to clinical geneticists. Eligible participants must be Spanish-speaking professionals with advanced proficiency, working with children under 18 years old, and involved in diagnosing rare diseases. Data will be anonymized, and demographic information such as age, gender, specialty, years of practice, and specific training in genetics or metabolic disorders will be collected.
DIAGEN-IA is a platform co-designed with input from neuropediatricians and geneticists, integrating the Orphanet ontologies (ORDO, HPO, and HOOM) to ensure comprehensive diagnostic support. The application employs a Bayesian network model to recommend differential diagnoses and appropriate tests based on phenotypic characteristics. This AI-driven approach enables interpretable decision-making and models uncertainty inherent in rare disease diagnosis. The platform operates on a client-server architecture and supports seamless integration into clinical workflows.
Primary outcomes include the proportion of referrals deemed inappropriate, assessed using a 5-point Likert scale by clinical geneticists. Secondary outcomes focus on referral quality, evaluated against standardized criteria, and user satisfaction, measured with the validated CSQ-8 questionnaire. User satisfaction will be assessed at one and six months during the intervention phase. Results will inform strategies to optimize referral processes and diagnostic accuracy in pediatric care.
Interventions
- Device Web-Based Application
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 diffe
Primary outcome measures
- Proportion of Inappropriate Referrals [Time frame: 6 months]
Secondary outcome measures (2)
- Completeness of Initial Diagnostic Evaluations [Time frame: 6 months]
- User Satisfaction [Time frame: 1 and 6 months]
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.
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: Yes
Study design
- Allocation
- N/A
- Model
- Single group
- Masking
- Open label
- Primary purpose
- Diagnostic
Study locations
Chile · 1 center
- Hospital Carlos Van Buren — Valparaíso
Identifiers
NCT: NCT06725901 · UNAB-006 · FONDEF ID23I10327