Pediatric Neurogenetic Diagnosis Support Platform
Trial statusRecruiting
Trial phaseNot applicable
Trial typeInterventional
Biological sexAll
AgeNot listed
SponsorUniversidad Nacional Andres Bello
About this trial
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
This trial accepts healthy volunteersQualifiers
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.
Disqualifiers
Refusal to participate.
Trial design
Design model
Single group
Treatments tested in this trial
Web-Based Application
DeviceThe 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 differential diagnoses and recommended tests, with results exportable in PDF for integration into medical records. Platform usage will be tracked, including login frequency, time spent, and evaluations performed.
Treatment groups
9 Participants
are divided into 1 treatment groupGroup A: Web-Based ApplicationExperimental treatment 1 intervention
Trial outcomes
Primary outcomes
1
Proportion of Inappropriate Referrals
The primary outcome of this study is the proportion of referrals deemed inappropriate by clinical geneticists. Appropriateness is assessed using a 5-point Likert scale, where referrals scoring 1 or 2 are classified as inappropriate. This evaluation considers all referral requests received during the study period, regardless of whether an in-person evaluation occurred.
Time frame
6 monthsSecondary outcomes
1
Completeness of Initial Diagnostic Evaluations
The completeness of evaluations in this study is assessed using Morera's scale, adapted for the study's objectives. This scale evaluates whether essential components such as clinical history, findings from physical examinations, relevant diagnostic tests, and a clear presumptive or differential diagnosis are sufficiently detailed to justify the referral. Referrals are categorized into four levels: Very Poor (minimal or no relevant data), Poor (some clinical or test data but insufficient for a justified referral), Normal (adequate data with a basic diagnostic judgment), and Very Good (comprehensive history, examination, and tests with a clear diagnostic justification).
Time frame
6 months2
User Satisfaction
User satisfaction will be evaluated using the Client Satisfaction Questionnaire (CSQ-8), a validated tool widely used in healthcare settings. The CSQ-8 consists of eight questions, each scored on a 4-point Likert scale, assessing users' perceptions of the utility, quality, and impact of the service provided. Scores range from 8 to 32, with higher scores indicating greater satisfaction. The questionnaire is designed to be self-administered and has undergone extensive linguistic validation, including in Spanish.
Time frame
1 and 6 monthsSponsors and contacts
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Universidad Nacional Andres Bello
Lead sponsor
Hospital Carlos Van Buren
Collaborator
Sociedad Chilena de Pediatría
Collaborator
Source ClinicalTrials.gov