An innovative diagnosis of rare diseases in children

The Italian children’s hospital IRCCS Burlo Garofalo in Trieste (IRCCS) and the Division of Pediatrics, University Medical Centre Ljubljana in Slovenia (UMCL) joined forces along with technology partners in the international CATTEDRA project: crossborder cooperation for innovative diagnosis of rare diseases in pediatricians.

Through their collaboration, the partners aim to share knowledge and work on improving the therapeutic methodologies and diagnostic possibilities of four rare immune-mediated inflammatory diseases in children.

The project will result in the collection, management, and use of data for two purposes:

• To support active patient monitoring and disease management to improve children’s health and overall quality of life. The platform will become a tool for everyday clinical practice.
• To allow anonymized data analysis and data exchange which will support clinically related research and industry-partner research.

To support the project, Better provided its Digital Health Platform and all the services needed to
customize clinical content across diseases.

Project description

The Italian children’s hospital IRCCS Burlo Garofolo in Trieste (IRCCS) and the Division of Pediatrics, University Medical Centre Ljubljana in Slovenia (UMCL) joined forces along with technology partners in the international CATTEDRA project. Through their collaboration, the partners aim to share knowledge and work on improving the therapeutic methodologies and diagnostic possibilities of rare immune-mediated inflammatory diseases in children, such as juvenile idiopathic arthritis (JIA), juvenile dermatomyositis (JDM), systemic lupus erythematosus (SLE), autoinflammatory disease and inherited immune deficiencies.

The project will strengthen collaboration between the two hospitals to increase knowledge about juvenile autoimmune diseases in neighbouring regions. All results will be shared among the two collaborating hospitals.

Additionally, the project will result in:

• a feasibility study of the 4 innovative diagnostic tests developed, which will combine the experiences of IRCCS and UCML
• new laboratory methods, which will enable doctors to better understand how the diseases progress

Better solutions

Products

Better Platform allows institutions to build, deploy, and manage care plans and registries across use cases and institutions.

The platforms supports:

• A design of clinical registry templates that enables clinical leads and programme managers to plan strategies and provide frameworks for clinical staff on the floor. Institutions can build or customise assessments and patient reported outcomes, and also regularly visit check points and link them to a care plan without having to do any programming.
• Setting up a clinical registry for an institution which will be used by clinical leads, department heads, and the clinical staff with the authority to initiate a new care plan or registry based on the available care plan templates. Institutions can set up tasks and reminders and manage fine-grain access to patients and registries per user group, or individual care team member.
• The management of patient inclusion and monitoring per clinical registry. This module brings the capabilities of managing patients’ inclusion in one or many registries, follow-up, and monitoring patients during inclusion, which will mostly be used by care team members. Besides the ability to enter, edit, and view patients’ clinical data, the module has an easy and comprehensive visualisation element.
• Querying and extracting data. Care teams and researchers can also access and extract full patient data, or anonymised clinical data.

Services

Within the project, Better’s clinical analysts and data scientists also provided all data models and clinical entry forms needed. The clinical content included covers laboratory results, medications and adverse events, disease-specific assessments and examinations, and Patient-Reported Outcome Measures (PROMs). The platform also provides the capability of integration with the existing applications being used in the hospital.

Hospitals can, at any time, quickly adapt or add new clinical content to their needs. For instance, COVID-19 may have similar effects to the body as immune-mediated inflammatory diseases. That is why hospitals decided to set up additional clinical forms for COVID-19-related data to be used for research. This was added easily, due to the flexibility and agility of Better Platform.

Better approach

1. The development and implementation of the registries:

•  designing openEHR data models and input forms: a weekly workshop with clinicians, where we clarify the requirements and review data models and forms developed
• integration of data from the EHR system
• testing and quality assurance
• the start of data collection, and using the application

2. The deployment of the Digital Health Platform, and the launch of turn-key content, which is ready to use in clinical practice.

3. Some clinical content is shared in the clinical community on the Clinical Knowledge Manager, so it is also available for other uses cases.

4. On-boarding the project team so that all further adaptations can be done by hospital team members themselves.