Italian National Node (EPTRI-IT)

The Consiglio Nazionale delle Ricerche (CNR), through the Institute of Molecular Biology and Pathology (IBPM) and the Department of Biomedical Sciences (DSB), provides advanced interdisciplinary research infrastructures supporting molecular biology, proteomics, imaging, and computational life sciences. CNR-IBPM hosts integrated installations including the Biocrystal Facility (Biocry), the Imaging Platform (Imag), and the Bioinformatics Unit (Bioinfo), supporting workflows from molecular discovery to structural biology, in vitro characterisation, and drug design. CNR-DSB integrates life sciences with proteomics, genomic editing, imaging technologies, and artificial intelligence to advance personalised medicine and European research initiatives. Services include protein crystallisation, surface plasmon resonance (SPR) studies, advanced microscopy, systems biology approaches, and bioinformatics support, as well as methodological and regulatory support for paediatric clinical research, including study design, protocol development, regulatory compliance, and drug/device development guidance. 

The Alma Mater Studiorum – Università di Bologna (UNIBO), provides advanced services in FAIR data management, interoperability, and omics data analysis. Building on methodologies developed within the ELIXIR infrastructure, the group supports data FAIRification through metadata standardisation, ontology integration, pseudonymisation strategies, and GDPR-compliant data sharing procedures. These services are delivered both as consultancy and implementation activities, enabling the transformation of heterogeneous biomedical datasets into interoperable and reusable resources. In parallel, the group provides advanced genomic and transcriptomic analysis services, supporting next-generation sequencing workflows from raw FASTQ processing to variant calling and interpretation. Analyses are performed through customised Galaxy-based platforms or expert-managed workflows, leveraging machine-learning approaches for pathogenicity prediction, protein stability assessment, and functional interpretation of genetic variants. These activities are supported by high-performance computational infrastructure, including CPU and GPU clusters, large-scale storage systems, and reproducible computational environments aligned with FAIRsharing and ELIXIR RDMkit standards. 

The Consorzio per Valutazioni Biologiche e Farmacologiche (CVBF) is a not-for-profit clinical research organisation (CRO) dedicated to supporting high-quality clinical studies across all phases of development, with a particular focus on paediatric and rare disease populations. CVBF provides comprehensive end-to-end clinical research services, including medical and scientific writing, ethical and regulatory support, clinical project management, monitoring and quality assurance, investigational medicinal product (IMP) management, data management, biostatistics, and pharmacovigilance. Through its multidisciplinary expertise and long-standing experience in both academic and industry-sponsored research, CVBF contributes to the design, execution, and analysis of clinical trials, ensuring methodological robustness, regulatory compliance, and high ethical standards. The organisation actively participates in national and international research projects, leveraging digital technologies, data-driven approaches, and collaborative networks to support innovative clinical research strategies, particularly in small and vulnerable populations. Within EPTRI-IT, CVBF strengthens the clinical trial and data management dimension of the Node, providing essential operational expertise that bridges academic research, clinical practice, and translational development. 

The Fondazione per la Ricerca Farmacologica Gianni Benzi – ETS (FGB) provides an integrated portfolio of regulatory, methodological, and innovation support services. FGB supports researchers and organisations in identifying and accessing national, European, and international funding opportunities through structured funding intelligence and scouting activities, delivering tailored analyses of funding calls and strategic recommendations. The foundation also provides comprehensive proposal development services, including partnership coordination, scientific and technical writing, budget preparation, and administrative submission management. In addition, FGB offers specialised regulatory and ethics support, including clinical study applications, Orphan Drug Designation, Paediatric Investigation Plans (PIPs), Advanced Therapy Medicinal Product (ATMP) classification, PRIME applications, and interactions with ethics committees and regulatory authorities. Complementing these activities, FGB delivers Health Technology Assessment (HTA) services for medicines, diagnostics, and medical devices, producing evidence-based evaluations of clinical, economic, organisational, and societal impact to support healthcare decision-making and innovation uptake. 

Fondazione Penta ONLUS – Child Health Research was established in 1991 as a collaborative network of paediatric HIV centres across Europe to address clinical and therapeutic questions related to antiretroviral therapy in HIV-infected children. In 2004, the PENTA Foundation was created as the legal entity representing the network. In 2011, PENTA evolved into PENTA-ID (Infectious Diseases), expanding its scope beyond HIV to include a broader range of paediatric infectious diseases, with the aim of improving prevention, diagnosis, and treatment strategies in children. To date, the PENTA network has sponsored 20 paediatric HIV clinical trials and is internationally recognised for its scientific excellence, geographical reach (over 130 centres in 42 countries), and high-quality research output, supported by diversified public and private funding. PENTA-ID is recognised as a Level 1 paediatric infectious disease network by Enpr-EMA and is a member of the WHO Global Accelerator for Paediatric Formulations (GAP-f), contributing to the acceleration of development and access to optimal paediatric medicines. Current activities include clinical trials, epidemiological studies, training and education programmes, capacity building initiatives, and the development of HIV treatment guidelines. 

IRCCS Eugenio Medea contributes specialised expertise in paediatric neurodevelopmental disorders, rehabilitation research, clinical phenotyping, and translational neuroscience. Through its extensive experience in paediatric clinical research and longitudinal patient cohorts, Medea supports the generation, collection, and analysis of high-quality clinical and observational data relevant to child health. The institution provides advanced assessment methodologies, outcome measurement frameworks, and multidisciplinary clinical research services spanning neurology, neuropsychiatry, rehabilitation medicine, and developmental disorders. Its activities contribute to the integration of clinical, behavioural, and biological data, supporting evidence generation, patient stratification, and the development of innovative diagnostic and therapeutic approaches in paediatric populations. Through its strong involvement in European and international research networks, Medea reinforces the translational and patient-centred dimension of EPTRI-IT, facilitating collaboration between clinical research, healthcare services, and biomedical innovation. 

TEDDY – European Network of Excellence for Paediatric Clinical Research is a non-profit network dedicated to advancing safe, ethical, and high-quality paediatric research, with a strong focus on children’s rights, access to medicines, and methodological excellence. TEDDY coordinates multiple specialised Working Groups covering key domains such as European paediatric medicine needs assessment, mitigation of off-label drug use, paediatric therapy development, innovative clinical research methodologies aligned with SPIRIT and CONSORT standards, health data and real-world evidence generation (including participation in ENCePP initiatives), and children’s empowerment and engagement through the TEDDY KIDS Network and European Young Persons’ Advisory Groups (YPAGs). The organisation provides methodological support for paediatric clinical research design, contributes to the identification of unmet medical needs and drug repurposing strategies, and supports the implementation of paediatric development plans and clinical research quality systems. It also facilitates access to paediatric medicine databases and actively promotes stakeholder and patient involvement in research processes. Within EPTRI-IT, TEDDY strengthens the methodological, ethical, and participatory dimension of paediatric research, ensuring that clinical development and evidence generation are aligned with patient-centred, transparent, and socially responsible research practices.  

The Università degli Studi di Bari Aldo Moro (UNIBA) contributes a specialised platform for preclinical studies in paediatric pharmacology and rare diseases. The platform integrates predictive animal models, human-derived cellular systems, advanced functional phenotyping, and translational pharmacology approaches to support drug discovery, efficacy evaluation, and safety assessment. Services include validated animal models for inherited neurodevelopmental and neuromuscular disorders, integrated neurobehavioural and neuromuscular function assessments, ex vivo tissue functional analyses, histopathology, molecular biology investigations, and human-based 2D and 3D models of inherited muscle diseases. The platform also provides high-content screening, electrophysiology, ion-channel pharmacology, and toxicology prediction services, enabling experimental validation of computational and in silico findings relevant to paediatric drug development. Supported by specialised animal facilities, advanced imaging systems, automated electrophysiology platforms, molecular biology laboratories, and organoid-generation capabilities, UNIBA offers extensive expertise in rare neuromuscular diseases, orphan drug development, and translational preclinical research. 

The Università degli Studi di Milano-Bicocca (UNIMIB) is a multidisciplinary university offering a wide range of academic programmes across life sciences, physical sciences, engineering, social sciences, and humanities. Its research activities span multiple biomedical domains, including cardiology and vascular diseases, neurology, hepatology, haematology, pneumology, oncology, rheumatology, infectious diseases, immunology, and genetics. In paediatric research, UNIMIB investigates developmental and oncological mechanisms, including neuroblastoma, glioma, and epigenetic regulation, as well as immunotherapy approaches such as natural killer cell-based therapies and chemotherapy optimisation. The institution performs in vitro and in vivo studies using animal models, proteomic analyses (e.g., TRIP8b protein in brain function), and genetic approaches to identify polygenic risk factors and causal associations in neurodegenerative diseases such as amyotrophic lateral sclerosis. UNIMIB also investigates tumour microenvironment mechanisms, drug resistance pathways, and targeted therapies (e.g., ALK-positive anaplastic lymphoma cases treated with crizotinib). Additional research activities include stem cell biology, regenerative medicine, tissue engineering, and molecular epidemiology studies on infectious diseases, including COVID-19 across different age groups.