Genetic DiseaseDIAGEN-IANCT06725901
Pediatric Neurogenetic Diagnosis Support Platform
A study testing Web-Based Application in people with Genetic Disease and Neurogenetic Disorders, run by Universidad Nacional Andres Bello at 1 site in Chile.
Trial 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… Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Genetic Disease, Neurogenetic Disorders
- What is being tested?
- Web-Based Application
- Type of treatment
- Medical device
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 9 participants
- Where
- 1 siteChile
- Study dates
- 10 Dec 2024to 30 Dec 2025
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Who may be able to join
- 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.
Who cannot join
- Refusal to participate.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Chile1 site, 1 recruiting
- Recruiting
Hospital Carlos Van Buren
Valparaíso, Valparaiso, 2341131
Nicole Nakousi-Capurro, MD, 2364000 ext. +56 32, nnakousi@gmail.com
About this study
Official title: Diagnostic Support Platform for the Identification of Pediatric Genetic Neurological Diseases Through a Machine Learning-Based Recommendation System
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.
Read the 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.
- Conditions
- Genetic Disease, Neurogenetic Disorders
- Being tested
- Web-Based Application
- Keywords
- Neurogenetic disorders, Genetic disease, Pediatrics, Clinical Decision Support Systems, Referral and Consultation, Bayesian Network
- Medical subject headings
- Genetic Diseases, Inborn
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Web-Based ApplicationDevice
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 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.
| Study group | Role | What they receive |
|---|---|---|
| Web-Based Application | Experimental | 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. Receives: Device: Web-Based Application |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 6 months
Secondary outcomes (2)
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).
Measured: 6 months
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.
Measured: 1 and 6 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted10 Dec 2024
- Study start10 Dec 2024
- Primary completion30 Oct 2025 (estimated)
- Study completion30 Dec 2025 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Genetic DiseaseStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Model description
- This is a before and after study.
- Masking
- None (open label)
- Enrolment
- 9 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Universidad Nacional Andres Bello
- Sponsor type
- University, hospital or other
- Collaborators
- Hospital Carlos Van Buren, Sociedad Chilena de Pediatría
- Responsible party
- Principal investigator, Felipe Martinez Lomakin, Universidad Nacional Andres Bello
- Investigators
- Nicole Nakousi-Capurro, MD, Study director, Hospital Carlos Van Buren
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06725901
- Sponsor's protocol ID
- UNAB-006
- Other IDs
- FONDEF ID23I10327
- Acronym
- DIAGEN-IA
- Status last verified
- May 2025
- First submitted
- 5 Dec 2024
- Last updated
- 29 May 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided: The data is highly contextual, reflecting practices, healthcare infrastructure, and referral patterns unique to the Valparaíso-San Antonio Health Service network. External researchers may misinterpret or misuse the data without understanding the local healthcare dynamics and cultural nuances. As the DIAGEN-IA platform is an innovative diagnostic tool still under evaluation, premature sharing of study data could lead to misrepresentation of its efficacy or functionality. Retaining control ensures proper validation and dissemination of accurate findings before broader analysis or application by others.
Study at a glance
From the registry record, last updated by the sponsor on 29 May 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Diagnostic Support Platform for the Identification of Pediatric Genetic Neurological Diseases Through a Machine Learning-Based Recommendation System
- ClinicalTrials.gov ID
- NCT06725901
- Acronym / sponsor ID
- DIAGEN-IA / UNAB-006
- Conditions
- Genetic Disease, Neurogenetic Disorders
- Keywords
- Neurogenetic disorders, Genetic disease, Pediatrics, Clinical Decision Support Systems, Referral and Consultation, Bayesian Network
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 9 participants (estimated)
- Lead sponsor
- Universidad Nacional Andres BelloUniversity, hospital or other
- Collaborators
- Hospital Carlos Van Buren, Sociedad Chilena de Pediatría
- Study start
- 10 Dec 2024 (actual)
- Primary completion
- 30 Oct 2025 (estimated)
- Study completion
- 30 Dec 2025 (estimated)
- First posted
- 10 Dec 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
- Model description
- This is a before and after study.
| Arm | Type | Receives |
|---|---|---|
| Web-Based Application | Experimental | Device: Web-Based ApplicationThe 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. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (4 listed)
- 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.
Key exclusion criteria (1 listed)
- Refusal to participate.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Web-Based ApplicationThe 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. | Device | Web-Based Application |
Primary outcome
Proportion of Inappropriate Referrals
Time frame: 6 months
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.
2 secondary outcomes
Completeness of Initial Diagnostic Evaluations
Time frame: 6 months
User Satisfaction
Time frame: 1 and 6 months
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 29 May 2025.
- Individual participant dataSharing planned: Undecided. The data is highly contextual, reflecting practices, healthcare infrastructure, and referral patterns unique to the Valparaíso-San Antonio Health Service network. External researchers may misinterpret or misuse the data without understanding the local healthcare dynamics and cultural nuances. As the DIAGEN-IA platform is an innovative diagnostic tool still under evaluation, premature sharing of study data could lead to misrepresentation of its efficacy or functionality. Retaining control ensures proper validation and dissemination of accurate findings before broader analysis or application by others.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Nicole Nakousi-Capurro, MD study director
Hospital Carlos Van Buren
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Web-Based Application in people with Genetic Disease and Neurogenetic Disorders, run by Universidad Nacional Andres Bello at 1 site in Chile.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 29 May 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Chile. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Nicole Nakousi-Capurro, MD (2364000 ext. +56 32, nnakousi@gmail.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Proportion of Inappropriate Referrals (time frame: 6 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 29 May 2025.