Pediatric Neurogenetic Diagnosis Support Platform (DIAGEN-IA)

Universidad Nacional Andres Bello

Status: Enrolling

Conditions: Genetic Disease; Neurogenetic Disorders

Treatments: Device: Web-Based Application

Study type: Interventional

Funder types: Other

Identifiers

NCT06725901

UNAB-006

FONDEF ID23I10327 (Other Grant/Funding Number)

Details and patient eligibility

About

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.

Full 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.

Enrollment: 9 estimated patients

Sex: All

Volunteers: Accepts Healthy Volunteers

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.

Trial design

Primary purpose: Diagnostic

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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9 participants in 1 patient group

Web-Based Application

Experimental group

Description:

The intervention involves the use of the DIAGEN-IA platform, a diagnostic support application designed to assist in identifying pediatric neurological diseases with a genetic basis. DIAGEN-IA employs a Bayesian network model, integrating ontologies such as ORDO, HPO, and HOOM to link phenotypic characteristics entered by physicians with suggested diagnoses and recommended tests. Participating pediatric neurologists will receive training to use the application during the 6-month intervention phase. The platform enables clinicians to input clinical data and complementary test results, generating a list of potential diagnoses and corresponding diagnostic tests. The results can be exported in PDF format for integration into the patient's medical record. Throughout the intervention, platform usage will be monitored, including login frequency, duration of use, and the number of evaluations performed.

Treatment:

Device: Web-Based Application