A persistent inflammation affecting blood vessels and potentially leading to serious thrombotic complications, even in young individuals with no known risk factors – this is the reality of systemic vasculitis, a group of rare autoimmune diseases which, if not promptly recognised and treated, can compromise vital organs such as the heart, kidneys, lungs and brain.

These conditions are the focus of a study published in Nature Reviews Rheumatology, one of the world’s most prestigious journals in the fields of immunology and rheumatology. The study is coordinated by Professor Giacomo Emmi, immunologist, lecturer in Internal Medicine at the University of Trieste, Head of the Department of Clinical Medicine and Scientific Coordinator of ASUGI (local health authority).

The article, the result of a coordinated review effort involving leading research centres in Italy, Sweden, Russia, Turkey and Australia, provides an overview of the thrombotic and cardiovascular manifestations associated with vasculitis. It also proposes new treatment strategies based on an anti-inflammatory approach.

The topic will be the subject of a presentation by Professor Emmi during the European Vasculitis Society (EUVAS) congress, being held for the first time in Trieste from 21st to 24th May, and bringing together over 400 specialists from across Europe. The congress is a key event for clinicians and researchers working in this area and is noted for its strongly multidisciplinary approach. Emmi is a member of the society’s board and part of the organising committee for the event.

"Our work," explains Emmi, "shows that in many forms of vasculitis, thrombosis is not an isolated event, but a direct consequence of vascular inflammation. In such cases, anticoagulants alone may be insufficient and must be combined with immunological therapy. A deeper understanding of the mechanisms underlying these findings changes the therapeutic approach and may open new avenues for other chronic inflammatory and non-inflammatory diseases as well."

Among the types of vasculitis examined in the review are:

• Eosinophilic granulomatosis with polyangiitis – a disease primarily affecting the respiratory tract, heart and peripheral nervous system;
• Behçet’s syndrome, which involves blood vessels of varying calibre and is characterised, among other things, by inflammatory thrombotic events.

The publication focuses on:

• the differences between arterial and venous thrombotic events;
• therapeutic management at different stages of the disease;
• and the various pathogenetic mechanisms that can inform clinical decision-making.

The study, available online via the Nature platform, represents a significant contribution to the international discourse on systemic autoimmune diseases, a constantly evolving field of medicine.

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Full Study Published in Nature Reviews Rheumatology         
Arterial and venous thrombosis in systemic and monogenic vasculitis
Federica Bello¹˒¹⁵, Filippo Fagni²˒³˒¹⁵, Giacomo Bagni⁴, Catherine L. Hill⁵˒⁶, Aladdin J. Mohammad⁷˒⁸, Sergey Moiseev⁹, Iacopo Olivotto¹˒¹⁰, Emire Seyahi¹¹ & Giacomo Emmi¹²˒¹³˒¹⁴

1. Cardiomyopathy Unit, Careggi University Hospital, Florence, Italy
2. Department of Rheumatology, Skåne University Hospital, Malmö, Sweden
3. Department of Clinical Sciences, Rheumatology, Lund University, Lund, Sweden
4. Department of Rheumatology and Inflammatory Diseases, Sahlgrenska University Hospital, Gothenburg, Sweden
5. Discipline of Medicine, University of Adelaide, Adelaide, South Australia, Australia
6. Queen Elizabeth Hospital, Central Adelaide Local Health Network, Adelaide, South Australia, Australia
7. Department of Rheumatology and Inflammation Research, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden
8. Department of Medicine, Karolinska Institute, Stockholm, Sweden
9. Department of Internal Medicine and Rheumatology, Sechenov First Moscow State Medical University, Moscow, Russia
10. IRCCS Don Carlo Gnocchi Foundation, Florence, Italy
11. Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey
12. Department of Medical, Surgical and Health Sciences, University of Trieste, Trieste, Italy
13. Department of Internal Medicine, Azienda Sanitaria Universitaria Giuliano Isontina (ASUGI), Trieste, Italy
14. European Reference Network ReCONNET, Trieste, Italy
These authors contributed equally: Federica Bello, Filippo Fagni

Prof. Pierangelo Gobbo’s research group from the Department of Chemical and Pharmaceutical Sciences at the University of Trieste has taken an exciting step forward in the creation of artificial tissues that respond to light, which they have called ‘photonastic prototissues.’

Synthetic biology is a discipline which straddles the border between engineering and biology, and was created in order to build artificial biological systems by combining chemistry, biotechnology and engineering. The work of Prof. Pierangelo Gobbo’s research group addresses a key challenge in the field: to create artificial tissues that not only mimic the structure of living systems, but also integrate movement and biochemical functions. The UniTS research group has created a powerful platform for designing materials that do not merely exist passively, but react and actively adapt to their environment.

The potential applications will have a significant impact on scheduled drug delivery techniques, the field of bioinspired materials and the field of soft robotics, a discipline which uses soft and flexible materials to create robots that can bend, deform and adapt to their environment.

The researchers, inspired by how real tissues convert energy into movement and function, have designed synthetic tissue-like materials that can contract and switch off their internal reactivity when exposed to light.

The secret of these dynamic proto-tissues lies in the combination of two elements: gold nanoparticles that convert light into heat and a polymer ‘proto-cortex’ that is sensitive to thermal changes. Similar to the cortex of living cells, this is nothing more than a polymer layer that covers the inside of the protocell membrane and gives the protocell greater mechanical strength. When exposed to light, the gold nanoparticles generate heat and trigger the contraction of the proto-cortex. This causes the individual proto-cells that make up the material to contract just like a small muscle. When the light is switched off, the structure promptly relaxes.

In addition to movement, they have shown that these contractions can regulate the enzymatic metabolism of the tissue, blocking or allowing access to small substrate molecules. In other words, light intensity can be used to induce reversible contractions that can modulate a biochemical process housed within the material.

The work, now published in Advanced Materials, https://advanced.onlinelibrary.wiley.com/doi/10.1002/adma.202502830 was developed in collaboration with Professors Piero Pavan and Silvia Todros (Department of Industrial Engineering, University of Padua; Tissue Engineering Lab, Fondazione Istituto di Ricerca Pediatrica Città della Speranza).

The research was supported by the European Research Council (ERC Starting Grant PROTOMAT, 101039578), the Next Generation EU (PRIN project NRRP 3D-L- INKED, P2022BLNCS; PRIN project SAMBA 2022285HC5_002; PNRR project ‘Metabolic and cardiovascular diseases’ CN000041) and the Marie Skłodowska-Curie Individual Fellowship ‘SAPTiMeC’ (101023978).

A previously unknown and extraordinary glacial melt event dating back to the Medieval Warm Period has left striking evidence on a glacier in Northern Victoria Land, Antarctica. The discovery is detailed in an international study published in the prestigious journal Communications Earth and Environment, titled "A warming pulse in the Antarctic continent changed the landscape during the Middle Ages." For the first time, the study reconstructs the impact of a sudden climatic warming that occurred between 900 and 989 years ago and significantly altered the Antarctic landscape.

The research, coordinated by Emanuele Forte (University of Trieste) and Mauro Guglielmin (University of Insubria and Centre for Climate Change Research), in collaboration with Maurizio Azzaro (Institute of Polar Sciences of the National Research Council – CNR-ISP), Nicoletta Cannone and Alessandro Longhi (University of Insubria and Centre for Climate Change Research), and Ilaria Santin (ETH Zurich), documents a phenomenon never before observed. The study identifies intense fluvial erosion and sediment transport across the glacier’s surface, caused by meltwater runoff that carved a channel at least four kilometres in length.

The findings show that the water left a lasting imprint on the glacier, creating a break in the stratigraphy and forming a graded sediment deposit – clear evidence of a gradual slowing of the water flow. Unlike current melt events observed in East Antarctica and on the Nansen Ice Shelf, the medieval event stands out as an exceptional case. It occurred during a naturally occurring phase of global warming, yet the same glacier today remains permanently snow-covered with no signs of surface melting. This contrast further highlights the uniqueness and significance of the discovery.

The research offers a new perspective on the stability of Antarctic glaciers and demonstrates that even short-lived episodes of climatic warming – often undetectable through traditional palaeoclimatic analysis – can lead to profound and lasting changes in glacial landscapes. The results underscore the sensitivity of Antarctic glaciers to sudden climate shifts and point to the potential impact of extreme events linked to ongoing climate change.

The study was conducted as part of the National Antarctic Research Programme (PNRA), funded by the Ministry of Universities and Research (MUR) and implemented through the National Research Council (CNR) for scientific coordination, ENEA for the planning and logistical support of activities at Antarctic bases, and the National Institute of Oceanography and Applied Geophysics (OGS) for the technical and scientific management of the research vessel Laura Bassi.

Making green hydrogen a more efficient, safe and accessible energy source is the goal of the E4H2 – Efficiency for Hydrogen project, launched by the University of Trieste in collaboration with the University of Udine. The initiative is one of several funded by the Region of Friuli Venezia Giulia through its regional call for proposals to support the creation and modernisation of research infrastructure in the field of renewable hydrogen.

Thanks to funding of €2 million from the regional government, the UniTS project will establish a network of four laboratories distributed across the region. Each lab will focus on a strategic stage in the hydrogen value chain, from production and storage to end use.

Researchers will work to improve the efficiency and durability of electrolysers, devices that produce ‘green’ hydrogen by splitting water into hydrogen and oxygen using electricity from renewable sources. The project will test innovative storage systems, including cryogenic tanks – specialised containers capable of storing hydrogen in liquid form at extremely low temperatures (down to -252°C) – and high-pressure solutions designed to reduce energy loss during storage and transport.

Significant efforts will also be devoted to the development of more efficient and longer-lasting fuel cells, which convert hydrogen into electricity without releasing pollutants, as well as to the definition of operating protocols aimed at improving the overall efficiency of the process. Another key objective will be safety, with the new network enabling researchers to identify critical issues and propose solutions to ensure increasingly reliable hydrogen use.

‘The infrastructure,’ explains Rodolfo Taccani, Professor of Machinery at the University of Trieste and scientific lead of the project, ‘will allow for the testing of devices at various levels, from individual components to pilot-scale systems. It will combine experimental research with advanced simulation models, including those based on artificial intelligence. The data collected will support better maintenance, lower costs and greater sustainability across the system.’

E4H2 represents a major step in building a regional green hydrogen supply chain, fully integrated into the broader cross-border framework of the North Adriatic Hydrogen Valley. It will foster connections between universities, research centres and businesses in support of the energy transition and decarbonisation.

As part of the wider regional funding programme for renewable hydrogen research infrastructure, the University of Trieste is also participating as a partner in three additional projects. The research teams are led by Rodolfo Taccani (Department of Engineering and Architecture), Alessandro Baraldi (Department of Physics) and Lorenzo Bonini (Department of Mathematics, Computer Science and Geosciences). The total funding awarded to these projects amounts to €3.5 million out of the 11 million allocated by the regional authority, making the University of Trieste the leading research institution in Friuli Venezia Giulia in this area of energy transition.

From 9th to 11th April, the future of European research on hydrogen will be discussed in Trieste as part of the 2025 edition of EPHyC (the European PhD Hydrogen Conference), which will be hosted at the Generali Convention Center and Warehouse 26 in the Old Port.

EPHyC will be organised by the University of Trieste in cooperation with Hydrogen Europe Research, Europe's leading hydrogen research organisation, which brings together over 150 international universities and research centres. The event will welcome PhD students from all over the European Union who are engaged in innovative projects related to clean fuel.

Over 150 young researchers from 85 academic institutions and research centres from 21 European countries will meet in Trieste for three days of scientific discussion. The initiative is part of the development of the North Adriatic Hydrogen Valley (NAHV), a strategic project which aims to accelerate the energy transition and is promoted by the Friuli Venezia Giulia Region, Slovenia and Croatia.

EPHyC 2025 stands out for its innovative format, in which PhD students themselves will organise and coordinate the scientific sessions, presenting their studies with the aim of receiving feedback, stimulating interdisciplinary collaborations and instigating new avenues of research.

The topics covered in the conference will discuss the main challenges in the field, from hydrogen production and storage to economic and regulatory aspects. Representatives of energy companies are also expected to attend, interested in both the conference content and the profiles of the participating young researchers.

The opening of EPHyC 2025 will be held on Wednesday, 9th April, at 9:00, in the Luttazzi Hall of Warehouse 26. Institutional greetings, the presentation of the partners involved and keynote lectures will be delivered by international experts such as Mirela Atanasiu, former Executive Director of the Clean Hydrogen Partnership, the partnership involving the European Commission. At 10:30 in the sala dei Curatori curators' room of the Civic Maritime Museum there will be a presentation of the projects financed under the regional notice dedicated to the support, creation, and modernisation of research infrastructures in the renewable hydrogen sector, for which the Region will allocate EUR 11 million.

Within this framework, the University of Trieste is reaffirming its commitment to clean fuel research, an area in which it has been active with international working groups and European projects dedicated to the development of hydrogen technologies for over twenty years. Research activities, both theoretical and applied, take place in a multidisciplinary context, involving engineers, chemists, physicists, geologists and lawyers, in collaboration with public and private partners. With this in mind, UniTS was one of the first Italian universities to join the Hydrogen Europe Research network.

The commitment of the University of Trieste also extends to education in the field of energy transition. The Engineering for the Energy Transition master's degree course has been active since last year, is entirely in English, and aims at training professionals capable of managing the transition to clean and renewable energy in the civil and industrial sectors.

‘The organisation of EPHyC 2025,’ states Professor Rodolfo Taccani, the Deputy Rector for technology transfer and business relations, ’confirms the role of Trieste, Friuli Venezia Giulia and the North Adriatic Hydrogen Valley as an international hub for research and innovation in the sustainable energy sector, thanks also to the contribution of the University of Trieste. The conference is not only an opportunity to learn more about research and technology, but also highly symbolic, as it brings together some of Europe's best young scientists engaged in research on energy transition and hydrogen. The University of Trieste, through EPHyC, contributes to outlining a common vision for the future of the European Union in the energy sector, in which theoretical and applied research play a fundamental role’.

‘EPHyC 2025 perfectly embodies the mission of Hydrogen Europe Research: to support and connect the European scientific community in order to accelerate innovation in the hydrogen sector. This event gives young researchers the opportunity to present their work, establish new collaborations and lay the foundations for the next generation of scientists and innovators. We are proud to support this initiative, which strengthens the link between academic research and industry, helping to build an increasingly strong and integrated European ecosystem,' states Luigi Crema, President of Hydrogen Europe Research.

The event is also being organised with the contribution of the Friuli Venezia Giulia Region and the patronage of the Italian Thermotechnical Association - Friuli Venezia Giulia Section, the Maritime Technology Cluster FVG and Confindustria Friuli Venezia Giulia.

For further information: www.ephycconference.com

Set up in 2013, the Sum-frequency Generation Laser Spectroscopy Laboratory (SFG – VISpLab) is part of the University of Trieste's Department of Physics, and is located at the Italian National Research Council’s (CNR) Materials Foundry Institute (IOM) based at the Basovizza campus of Area Science Park. 

Today, the SFG - VISpLab was presented as one of the UniTS facilities to have strengthened its activities over time, becoming a leading facility on the local and international scientific scene.

‘The Laboratory innovatively exploits non-linear optical spectroscopy with laser sources to investigate the fundamental properties of condensed matter surfaces at the atomic level, where very relevant physical and chemical phenomena take place,' explains Erik Vesselli, head of the laboratory and associate professor in experimental condensed matter physics at UnITS. ’Our aim is to synthesise and characterise materials that mimic complex molecules present in nature, like enzymes, for example. 

Biomimetic materials (i.e., materials that mimic nature) are of fundamental importance because they can be used in strategic applications such as the synthesis of energy carriers, the photovoltaic industry, energy storage systems, electronics and spintronics.
To further develop the laboratory, the team has recently commissioned an electrospray molecular source, which allows new two-dimensional materials to be assembled, artificially replicating in a crystal the characteristics of biochemical systems, which can then be adjusted and controlled for practical use.
‘Using this innovative approach, we have recently succeeded in creating a material based on graphene, which mimics in two dimensions the properties of vitamin B12. B12 is a biomolecule that is unique for its particular functionality,’ continues Prof. Vesselli. ‘This is a significant achievement for the international scientific community, with interesting applicative potential.’

The laboratory does not work as a standalone, being as part of the scientific collaboration network of the Trieste System both at national and international levels. 
Initially set up thanks to MUR funding and partially with the contribution of local and foreign foundations, SFG - VISpLAB has grown over time thanks to scientific projects and with recent funding by the Friuli Venezia Giulia Region in the context of an intense scientific collaboration with CNR - IOM in the immediate vicinity of Elettra Sincrotrone Trieste.
 

Generali and the University of Trieste presented an agreement to set up a chair dedicated to Responsible and Sustainable Artificial Intelligence starting from the academic year 2025/2026. 

The announcement was made during an event at the University of Trieste, in the presence of the Rector, Roberto Di Lenarda, the Chairman of Generali, Andrea Sironi, the CFO of the Generali Group and President of Mib, Cristiano Borean, and Professor Scantamburlo, winner of the competition, moderated by Professor Luca Bortolussi – Full Professor of Computer Science at UniTS. 

The agreement will entail Generali covering the expenses for a researcher and the subsequent full-time enrolment as a university professor in the scientific-disciplinary sector INFO-01 / A - IT for the next 15 years, which was recruited at the end of the selection procedure established by the University. 

After the establishment, along with other scientific entities located in Friuli Venezia Giulia region, of the Data Science & Artificial Intelligence Institute with the aim of carrying out world-class research and promoting the transfer of knowledge in the field of machine learning and artificial intelligence (an initiative that has instituted the figure of the Business Translator), Generali intends to contribute new research and training tools to understand and address the social and ethical implications related to the development and implementation of AI technologies. 

For this reason, in partnership with the University of Trieste and to mark the important anniversary, Generali will support the new chair that will enhance the university's training offer, as well as developing skills in responsible, reliable and sustainable artificial intelligence in conjunction with the Group's Academy, thus contributing to the design and implementation of special courses designed to train graduates with skills in line with occupational requirements and equipped for the new technological and ethical challenges ahead. 

The Chairman of Generali, Andrea Sironi, stated: “The scientific ecosystem of Trieste has a wealth of talent and knowledge that Generali supports and which, on this special occasion marking the 100th anniversary of the University of Trieste, is boosted by a multi-year collaboration that will set up a new chair. The goal is to invest in young people and in innovation, addressing one of the most stimulating and transformative issues of the contemporary age, Artificial Intelligence, creating an increasingly close dialogue between the academic world and the business environment.” 

The Rector of the University of Trieste, Roberto Di Lenarda, commented: “The University's mission is to preserve and allow human intelligence flourish; AI will have the task of amplifying it. For these reasons, the University of Trieste has prioritised investing in these issues in recent years. Thanks to the further, fundamental investment that Generali has decided to make in favour of the new generations, our educational offer will be enriched by a new teaching in a delicate and strategic field, in line with the emerging needs of a sector that is undergoing great and rapid evolution.” 

Teresa Scantamburlo has worked at Ca' Foscari University of Venice, the University of Bristol (UK), and the European Centre for Living Technology. Her research focuses on the ethical and social impact of artificial intelligence (AI) and data-driven technologies. She has contributed to the piloting of the European ethical guidelines for trustworthy AI and is currently a member of the working group for drafting the code of conduct for general-purpose AI at the AI Office of the European Community. In February 2025, she was awarded the new Generali Chair on Responsible AI at the University of Trieste

The School of Specialization in Forensic Medicine at the University of Trieste participated for the fourth consecutive year in the most important event in forensic pathology worldwide, the international conference of the American Academy of Forensic Sciences, held in Baltimore (Maryland) from February 17 to 22, 2025.

This edition, focused on technological innovation in forensic medicine, titled “Technology: a tool for transformation or tyranny?” featured a team of young doctors trained by UniTS, consisting of Davide Radaelli, Monica Concato, Stefano Di Maria, and Filippo Bolzan, who were involved in four oral presentations and two posters.

“Our newly specialized doctors and residents,” explains Professor Stefano D’Errico, professor of Forensic Medicine at the Department of Medical, Surgical, and Health Sciences at UniTS and director of the Complex Structure of Forensic Medicine at ASUGI, “presented the results achieved in a year of challenging fieldwork and the fruits of solid scientific collaborations with other Italian and international academic institutions.”

The residents' interventions referred to forensic cases collected by the Trieste Forensic Medicine department, applying a rigorous methodology that spans from the crime scene to the research laboratory, including the autopsy table. The works presented by the Trieste team were selected from thousands of submissions from around the world.

A major innovation this year was the prestigious collaboration with the interregional Scientific Police Department of Padua, which provided its expertise and resources in reconstructing and interpreting a complex suicide scenario using three-dimensional virtual animation techniques. Special interest was raised by the studies that the School of Forensic Medicine at UniTS is conducting on markers of autophagy in traumatic cranio-encephalic injuries and lipidomic profiles in sudden coronary cardiac deaths.

“As the title of the international conference suggests, forensic medicine is also a discipline that looks to the future and technological innovation,” points out Professor Stefano D’Errico. “The involvement of both medical and non-medical professionals demonstrates the value of interdisciplinarity in the search for high-quality evidence to serve the administration of justice.”

Among the works selected by the scientific board of the American Academy of Forensic Sciences is also the project for a Balkan register of sudden cardiac deaths in youth, inspired by the unique initiative of the regional register in Friuli Venezia Giulia, which involves not only UniTS but also the Universities of Belgrade, Skopje, Athens, Ankara, and Ljubljana.

The project, coordinated by the forensic medicine and cardiology departments of ASUGI, was launched following the recent international congress on the topic, held in Trieste in October 2024. “In this way,” continues Professor D’Errico, “we aim to continue the work carried out across the entire regional territory, while also exploring the role of ethnicity in the pathogenesis of sudden cardiac death.” Trieste is the leader of this project due to the experience gained, thanks to the efforts of all colleagues across the provinces who contribute to the registry, and, of course, the Region of Friuli Venezia Giulia, which has promoted and continues to support the regional register of sudden cardiac deaths in youth since 2021.

“A decisive boost in this direction,” concludes D’Errico, “will come from setting up a forensic toxicology laboratory within the Forensic Medicine Department, which, I hope, will soon meet the growing demands of citizens and local authorities engaged in safeguarding public health and rights.”

An international study, co-ordinated by the University of Trieste, in collaboration with the local health services (Azienda Sanitaria Universitaria Giuliano Isontina – ASUGI), and the National Amyloidosis Centre in London, may revolutionise the prospects for early treatment of transthyretin cardiac amyloidosis (ATTR-CA), a rare and progressive heart disease caused by the abnormal accumulation of a protein – transthyretin – that is deposited in cardiac tissue, compromising its structure and function.

The study, published in the prestigious journal JAMA Cardiology and presented at the American Heart Association (AHA) Congress, analysed for the first time patients with transthyretin (ATTR) cardiac amyloid infiltration who had not yet developed signs or symptoms of heart failure. Using an advanced imaging technique, the researchers demonstrated that patients with moderate to severe cardiac infiltration (scintigraphic grades 2 and 3) already exhibited typical features of amyloid cardiomyopathy, with abnormalities visible on both echocardiogram and serum biomarkers. In these patients, the disease progressed more rapidly, with over 50% developing signs and symptoms of heart failure requiring diuretic therapy within three years of diagnosis.

Aldostefano Porcari, research assistant at the University of Trieste and first author of the publication, explains: ‘Current European and American guidelines recommend treatment with the drug tafamidis only for patients who have already developed overt heart failure. However, our study suggests that even asymptomatic patients with advanced cardiac infiltration could benefit from early treatment, potentially slowing or even halting disease progression. These findings pave the way for a possible revision of therapeutic recommendations, with the aim of intervening before the onset of symptoms.’

This study represents a key starting point for future research into cardiac amyloidosis. The findings suggest that, in the early stages of the disease, amyloid deposits may bind less tightly to the heart’s extracellular matrix — the network of proteins that provides structural support to cardiac tissue. This phenomenon could make amyloid deposits more susceptible to potential treatments. As new therapies are developed to target amyloid removal, these insights will be crucial for improving treatment effectiveness, enabling more targeted intervention in the early phases of the disease.

THE DISEASE

The term amyloidosis refers to a group of disorders characterised by the abnormal and harmful accumulation of amyloid protein in the extracellular space. Amyloidoses are multisystem diseases, and one of the organs most commonly affected is the heart. The term ‘cardiac amyloidosis’ refers specifically to heart conditions associated with amyloidosis. These diseases primarily affect men over the age of 60. Risk factors include plasma cell disorders, chronic illnesses, and genetic mutations. Currently, treatment involves specific medications depending on the type of amyloidosis diagnosed, with the aim of eliminating or stabilising the source of the amyloid-forming protein.

Until a few years ago, this condition was typically diagnosed only at an advanced stage, when the heart was already severely compromised. Today, thanks to advances in non-invasive diagnostics, it is possible to detect the disease at an earlier stage, opening up new possibilities for intervention. Although overall mortality rates were similar across patient groups, the risk of death from cardiovascular causes in patients with grade 2 and 3 cardiac infiltration was found to be approximately five times higher than in those with grade 1, where deaths were more often attributed to non-cardiac causes.

A key role was played by the use of an advanced imaging technique – bone tracer scintigraphy combined with single-photon emission computed tomography (SPECT) and computed tomography (CT) – to identify ATTR cardiac amyloidosis in asymptomatic patients and to study disease progression in this population.

THE TEAM

The study was led by a team from the University of Trieste and ASUGI, including Aldostefano Porcari, research assistant and first author of the publication; Gianfranco Sinagra, professor in the Department of Medical, Surgical and Health Sciences at the University of Trieste and Head of the Cardio-Thoraco-Vascular Department at Cattinara Hospital; and Valentina Allegro, a medical resident at the University of Trieste.

The research project involved a total of twelve leading international cardiology centres.

Dr. Porcari was invited to present the study’s findings in the prestigious ‘Samuel A. Levine Early Career Clinical Investigator Award’ session, an honour reserved for young researchers who have made significant contributions to clinical cardiology.

Research in this field will continue at the University of Trieste with the involvement of Rossana Bussani, Professor of Pathological Anatomy and expert in the histological assessment of cardiac and extracardiac amyloid deposits, and Gabriele Stocco, Associate Professor of Pharmacology. Together with Gianfranco Sinagra, Professor Stocco promoted the acquisition of a mass spectrometer in Trieste for the advanced characterisation of amyloid deposits. Through these initiatives, the University of Trieste aims to develop new diagnostic and therapeutic strategies, with the goal of enabling earlier and more targeted interventions in the management of cardiac amyloidosis.

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Full study published in Jama Cardiology

Clinical Phenotype and Prognosis of Asymptomatic Patients With Transthyretin Cardiac Amyloid Infiltration

Aldostefano Porcari, MD1,2,3; Yousuf Razvi, MBChB, BSc1; Francesco Cappelli, MD, PhD4,5; et al

1. National Amyloidosis Centre, Division of Medicine, University College London, Royal Free Hospital, London, United Kingdom
2. Center for Diagnosis and Treatment of Cardiomyopathies, Cardiovascular Department, Azienda Sanitaria Universitaria Giuliano-Isontina, University of Trieste, Trieste, Italy
3. European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart, ERN GUARD-Heart, Trieste, Italy
4. Cardiomyopathy Unit, Careggi University Hospital, University of Florence, Florence, Italy
5. Tuscan Regional Amyloidosis Centre, Careggi University Hospital, Florence, Italy

The Italian Medicines Agency - AIFA has given the green light for the world's first clinical trial of the drug Mirtazapine in Rett Syndrome,  MirtaRett, after receiving approval from the national ethics committee for paediatric studies. 

The trial is coordinated by the University of Trieste and will be conducted in the main Italian referral hospitals for patients suffering from Rett Syndrome. It is entirely supported by non-profit grants, particularly the non-profit project ‘Angelini for future ’ from Angelini Pharma SpA, together with the Canali Onlus, Ico Falck Onlus and Amadei and Setti Onlus Foundations. The trial will be managed by the consortium for biological and pharmacological evaluations (Consorzio per Valutazioni Biologiche e Farmacologiche, CVBF), a non-profit organisation providing services for clinical research in Italy. 

The actual start of the trial will take about two months, during which UniTS, the coordinating centre, and the four clinical centres in Milan, Genoa, Siena and Messina, will set up the organisational machinery for the recruitment and treatment of the patients. The patients are exclusively female, as Rett syndrome is a genetic disorder that affects 1 in 10,000 girls and is the second most common cause of intellectual disability in females worldwide (Petriti et al. Systematic Reviews (2023) https://doi.org/10.1186/s13643-023-02169).

The trial will involve a total of 54 patients aged between 5 and 40 years. They will be divided into three groups of 18 with varying age brackets (5-10, 11-17 and 18-40 years).

Rett syndrome is a genetic disorder caused by unpredictable mutations of the MECP2 gene in the reproductive cells (spermatozoa or oocytes) of completely healthy parents. Symptoms appear in the second year of life when girls begin to speak and walk, displaying rapid regression of speech and the inability to make voluntary hand movements. In later years, girls develop epileptic seizures and respiratory difficulties, which are the main cause of death. Many patients reach adulthood, albeit with severe physical and cognitive disabilities. 

Restoration experiments on the mutated gene conducted in animal subjects have demonstrated that the disorder can be completely reversed, but to date there is still no definitive cure. 

The project started in 2009, thanks to funding from Telethon, Fondazione San Paolo, Fondazione Casali, Beneficentia Stiftung and the parent associations AIRETT Onlus and ProRett Ricerca Onlus. Across15 years of study carried out in the laboratory directed by Prof. Enrico Tongiorgi at the Department of Life Sciences at the University of Trieste, abundant experimental evidence of Mirtazapine's efficacy in the recovery of certain symptoms has been collected. Further evidence in favour of the drug was then gathered through a retrospective investigation in collaboration with the Rett Reference Centre at Le Scotte Hospital in Siena, where the drug was administered as standard treatment for anxiety, repetitive behaviour and sleep disorders for a period of 1 to 5 years in 40 adult Rett patients. In addition to the beneficial effects the drug had on anxiety and sleep, the study also revealed it as being beneficial to slowing the progression of Rett syndrome, demonstrating improvements in some typical symptoms such as self-harm, irritability, motor difficulties and loss of communication skills. 

‘At the moment, no one has been able to test the effects of this drug in girls suffering from Rett syndrome yet,’ said Prof. Tongiorgi, ‘We therefore believe it is necessary to proceed with a rigorous clinical trial like the one proposed in the MirtaRett project. We have set ourselves the goal of keeping this project entirely in Italy, involving the main referral clinical centres. The trial will test the efficacy of the drug on general symptoms and in particular on motor skills, such as the use of the hand, the ability to communicate and on psychological disorders. We will also monitor the quality of sleep and the basic parameters of breathing and the heart, thanks to a new Italian-made smart T-shirt that we have tested, allowing us to make important discoveries on breathing defects in these patients.’ 
The study also involves monitoring the stress levels of caregivers and detecting biomarkers in the blood, such as neurotrophic factors, which are useful for assessing the effects of the drug on developmental recovery and plasticity of the nervous system.

Every clinical trial has high costs, but thanks to the non-profit nature of the project, it has been possible to reduce them considerably and, thanks to the generosity of donors, the hospitals in Messina, Milan and Siena will also be equipped with the instrumentation to conduct the actigraphy, and 54 smart T-shirts will be purchased. 

Centres and researchers involved in the experimentation:

Coordinator - Prof. Enrico TONGIORGI, Department of Life Sciences, University of Trieste.
Partner 1 – Prof. Maria Paola CANEVINI, Dr. Ilaria VIGANÓ, ASST Ospedale Santi Paolo Carlo - Via di Rudinì 8; Milano; Prof. Aglaia VIGNOLI (MD) ‘Statale’ University of Milan.
Partner 2 – Prof. Lino NOBILI, Dr. Giulia PRATO – Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal and Child Sciences (DINOGMI), University of Genoa - Child Neuropsychiatry Unit, Research Hospital, Giannina Gaslini Institute, Genoa.
Partner 3 – Dr. Salvatore GROSSO, Dr. Claudio DE FELICE – Rett Syndrome Research and Experimentation Centre - Paediatric/Neuropaediatric Unit, Mother and Child Department – Polyclinic ‘Santa Maria alle Scotte’, Siena.
Partner 4 – Prof. Gabriella DI ROSA, Dr. Antonio NICOTERA - ‘Gaetano Barresi’ Department of Human Pathology of Adults and the Age of Development, ‘G. Martino’University Polyclinic, University of Messina.