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To promote the sustainability of project outcomes we will further develop the clinically most promising computational modelling pipelines, toward submission for approval for routine use in a clinical environment as a software medical device. Furthermore, we will assess stakeholder perspectives on the exploitation of novel diagnostic and patient-management technologies. Taking this knowledge into account, we will develop proposals for a European foundation to aid personalised diagnosis and management of IMDs.

WP7. Development of Medical Device Software

A novel software process assessment model will be developed to assist both MDS organisations and regulators to adopt and understand the incorporation of AI algorithms into medical devices. The classification software developed in WP2-4 will initially be of an academic modelling standard, i.e., sufficient for peer-reviewed publication in their respective fields. Subsequently, the software process assessment model will be applied to ensure the efficient development of regulatory-compliant software medical devices. Targeted education and training of academic software developers will also be provided and combined with practical software development assistance toward the submission of software packages for regulatory consideration. Furthermore, IMD clinicians will provide feedback on software to ensure that it is suitable for use in realistic clinical scenarios.

WP8. Exploitation
Task 8.2 Propose a European foundation to aid personalised diagnosis and management of IMDs

To make the right diagnosis and treatment decisions, clinicians need to collect all technologically feasible and relevant data on each patient. We will develop and propose a plan to establish a non-profit foundation dedicated to aiding the diagnosis and management of IMDs. This foundation will translate established technology for metabolomic analysis, genomic analysis, and computational modelling into a set of federated national laboratories that generate, store, integrate, and analyse data from IMD patient samples across Europe. This foundation will collaborate with all relevant stakeholders and organisations, including academics, clinicians, patient organisations and companies interested in the development of therapies for IMDs, e.g., patient registries would have the opportunity to help drive the specifications for phenotypic data capture. Pseudonymised patient data would be available for scientific research, subject to the approval of a comprehensive data access proposal, with approaches that are compliant with European data protection regulations (GDPR), including data minimisation. Sharing data from an individual patient would be subject to consent, with a dedicated team to help patients understand that they are being helped by other patients who shared their data and that each patient can help other patients by sharing their data. This creative approach to valorisation will learn from similar foundations established for other fields, e.g., the Hartwig Medical Foundation for personalised diagnosis and management of cancer,

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