Researchers from the Neurobiology of Dementia group at the Sant Pau Research Institute (IR Sant Pau) have published two pioneering studies in the journals Alzheimer’s & Dementia and Neurology, revealing key advances in understanding Alzheimer’s disease in individuals with Down syndrome (DS). They have demonstrated the relationship between white matter hyperintensities and cerebral microhemorrhages with the development of this disease in this population.

Studies in individuals with DS are crucial because this population has a highly determined genetic risk for developing Alzheimer’s due to the triplication of chromosome 21. This genetic condition leads to the overproduction of beta-amyloid, one of the primary biological characteristics of the disease. As a result, almost all individuals with DS show biological signs of this condition from the age of forty, although clinical symptoms may appear later.

This phenomenon makes DS a unique model for studying the early mechanisms of Alzheimer’s disease and its interactions with cerebrovascular factors, providing data that may also be applicable to the general population. “The life expectancy of individuals with DS has significantly increased in recent decades, but this success has highlighted the need to address the growing impact of Alzheimer’s in this population,” says Dr. Alexander Bejanin, researcher in the Neurobiology of Dementia group at IR Sant Pau, who coordinated the two studies now published. “Our studies allow us to identify key factors that could improve early detection and prognosis of the disease, not only in individuals with DS but also in the general population.”

White matter hyperintensities

White matter hyperintensities (WMHs) are detected through magnetic resonance imaging (MRI) as bright areas in the brain. In individuals with DS, these lesions appear earlier and with greater severity than in the general population. They are key indicators of cerebrovascular issues and are strongly linked to the progression of Alzheimer’s disease.

According to Alejandra Morcillo-Nieto, the lead author of the study published in Alzheimer’s & Dementia, “WMHs are crucial for understanding how cerebrovascular disease and Alzheimer’s disease are related in individuals with DS. These lesions are particularly prevalent in periventricular, frontal, parietal, and occipital regions, and this is the first study to identify the areas where they are most common in this population.”

The study, which analysed 261 adults with DS and 131 adults without this condition, shows that “WMHs increase with age and are correlated with biomarkers such as beta-amyloid and phosphorylated tau, suggesting a direct connection with the pathophysiology of Alzheimer’s disease, independent of vascular risks,” says Morcillo-Nieto. Moreover, these anomalies are related to clinical status, suggesting that they may be directly influencing functional deterioration.

Cerebral microhemorrhages

Cerebral microhemorrhages are small deposits of blood in the brain that may indicate vascular damage and are associated with Alzheimer’s disease. In individuals with DS, these lesions are more frequent and primarily concentrate in the posterior regions of the brain, such as the cerebellum and occipital areas. This is one of the findings of the study published in Neurology, and although they are not exactly the same areas as those for WMHs, they are strongly related.

According to Sàra Zsadanyi, the lead author of the study, “microhemorrhages are a key piece of understanding the risk of complications in anti-amyloid therapies. Their increasing prevalence with age allows us to better identify key moments for intervention.” The study identified microhemorrhages in 20% of individuals with DS, compared to only 8.9% in healthy controls.

These lesions increase not only with age but also with clinical severity, rising from 12% in early stages to 35% in advanced stages of dementia. The results also show a correlation with Alzheimer’s disease biomarkers, highlighting their relevance for monitoring and treating this vulnerable population.

Overall assessment of advances

According to Dr. Alexander Bejanin, “with our studies, we want to highlight the crucial role of characterising these two vascular lesions in the development of new therapies for Alzheimer’s disease.” Dr. Bejanin also emphasises that the findings “are not only relevant for Down syndrome but have broader implications for understanding Alzheimer’s disease in general.”

These discoveries have a direct impact on the management and treatment of the disease. “With the arrival of new anti-amyloid therapies, these lesions are a crucial factor to consider, as they may increase the risk of adverse effects,” warns Dr. Bejanin. This underscores the importance of using MRI to monitor disease progression and personalise treatments.

Future perspectives

The research also opens the door to exploring new preventive and therapeutic strategies. According to Dr. Bejanin, “studies in DS allow us to better understand the relationship between vascular lesions and Alzheimer’s pathology, offering a unique opportunity to apply this knowledge to the general population.” The researchers highlight that these findings could improve understanding of the role of vascular lesions in Alzheimer’s, both as a cause and a consequence of the disease.

Sant Pau Hospital is an international reference centre for neurodegenerative diseases associated with DS. Its Alzheimer-Down Unit, the only one in Spain, continues to lead research redefining the future of diagnosis and treatment for these conditions. This unit works in a multidisciplinary way, combining clinical and translational research with a personalised approach to meet the specific needs of individuals with DS.

Reference articles:

• Morcillo-Nieto AO, Zsadanyi SE, Arriola-Infante JE, (…) Bejanin A. Characterization of white matter hyperintensities in Down Syndrome. Alzheimer’s Dement. 2024; 1-15. https://doi.org/10.1002/alz.14146
• Zsadanyi SE, Morcillo-Nieto AO, R. Aranha M, (…), Bejanin A. Associations of Microbleeds and Their Topography With Imaging and CSF Biomarkers of Alzheimer Pathology in Individuals With Down Syndrome. Neurology 2024; 103:e209676. https://doi.org/10.1212/WNL.00000000002096

Researchers from the Sant Pau Research Institute (IR Sant Pau) have collaborated with an international team to develop a tool that promises to transform how small vessel disease associated with the NOTCH3 gene is assessed and managed, including CADASIL, the most severe presentation of this condition. Published in the prestigious journal JAMA Neurology, the study introduces a staging scale that classifies the progression of this disease into five main stages and nine subgroups, offering for the first time a clear model to understand its evolution.

Dr Israel Fernández-Cadenas, head of the Pharmacogenomics and Neurovascular Genetics Group at IR Sant Pau and one of the researchers involved in developing this classification, explains that this advancement represents a fundamental shift in the management of these diseases. “Until now, it was known that CADASIL progressed over time, but physicians lacked tools to classify its progression systematically. The new scale, however, provides a framework that allows doctors to place patients in a specific stage, which not only helps provide them with a clearer understanding of their prognosis but also reduces the uncertainty that characterises many rare diseases like this one.”

Easy Application to Clinical Practice and Research

The scale has been designed to integrate data from magnetic resonance imaging (MRI) and functional assessments, tools already part of routine medical practice. According to Dr Elena Muiño, a researcher in Dr Fernández-Cadenas’ group and another contributor to the development of the classification, this means that its implementation will not require additional investments or complex technologies, a key factor for its adoption in diverse medical settings, including those with limited resources.

One of the major advantages of this tool is that it not only facilitates a better understanding of the disease’s progression but also improves the way experimental treatments are designed and evaluated. “By classifying patients according to the stage of the disease, clinical trials will be able to identify more precisely which therapies are effective for each stage,” explains Dr Muiño.

Application in Other Contexts

The impact of this scale is not limited to CADASIL. Although this study focused on patients with genetic variants associated with the NOTCH3 gene, the model could also be applied to other forms of small vessel disease, including sporadic forms such as those caused by hypertension. Dr Muiño emphasises that “CADASIL is considered the genetic model par excellence for small vessel disease. Therefore, it seems logical to think that this classification system will be applicable to other causes of small vessel disease, facilitating their study, which also lack a specific treatment.”

The development of the scale initially involved a cohort of 195 patients with CADASIL and was later validated in a sample of over 1,700 individuals from various regions worldwide, confirming its international applicability. Additionally, a longitudinal follow-up of up to 18 years allowed researchers to observe how the disease progresses in most patients, particularly over long periods. This knowledge not only helps set clearer expectations for patients and their families but also provides a solid foundation for designing more specific therapeutic interventions.

A Challenge that Still Remains

Despite these advances, Dr Muiño acknowledges that treating CADASIL remains a challenge. “Currently, there are no specific therapies for this disease beyond general measures to manage cardiovascular risk factors. However, implementing this scale represents an essential step towards developing targeted treatments.”

The publication of this study in a high-impact journal such as JAMA Neurology underscores its scientific and clinical significance, highlighting the importance of a multidisciplinary and international approach to tackling complex diseases like this. “This is a crucial step forward in shedding light on an area that, until now, was filled with uncertainty,” concludes Dr Muiño. “Not only are we giving patients a better understanding of what they face, but we are also laying the groundwork for future treatments that could change their lives.”

About CADASIL and the NOTCH3 Gene

CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a genetic condition that affects the brain’s small blood vessels, causing an alteration in blood flow distribution to various brain regions. This condition is caused by genetic variants in the NOTCH3 gene, located on chromosome 19, whose alteration leads to the aggregation of the Notch3 protein and other proteins, ultimately resulting in damage to the blood vessel wall.

The progressive damage to these small vessels leads to clinical manifestations including recurrent strokes, migraines, mood disorders, and, in advanced stages, vascular dementia. Most cases typically manifest between the ages of 45 and 60, although earlier and later forms have been described depending on the location of the genetic variant and individual factors such as sex and cardiovascular risk factors.

Although CADASIL has historically been considered a rare disease, recent studies suggest its prevalence could be much higher than previously estimated. It is believed that up to 1 in 300 people carries a pathogenic genetic variant in the NOTCH3 gene. Indeed, many individuals may not develop severe symptoms or may present with milder forms of the disease depending on the location of the genetic variant. This observation has generated growing interest in research, as it could explain a significant proportion of undiagnosed cerebrovascular diseases, particularly in older adults.

Reference Article:

Gravesteijn G, Rutten JW, Cerfontaine MN, Hack RJ, Liao Y-C, Jolly AA, et al. Disease severity staging system for NOTCH3-associated small vessel disease, including CADASIL. JAMA Neurol [Internet]. 2024; Disponible en: http://dx.doi.org/10.1001/jamaneurol.2024.4487

One more year, the Sant Pau Research Institute (IR Sant Pau) celebrated a new edition of its Research Day, an event aimed at reaffirming the center’s position as a leader in biomedical research and scientific innovation. The gathering brought together research leaders, healthcare professionals, and technology experts to discuss the latest advancements transforming healthcare.

During the event, attended by more than a hundred professionals from the institute, various roundtables were held to address topics such as cutting-edge research in major hospitals, the challenges of collaboration between research and healthcare, the benefits of research and technological innovation for patients, and the latest developments in the fields of neuroscience and mental health—an area where IR Sant Pau stands out as one of the leading centers.

Dr Jordi Surrallés, director of IR Sant Pau, opened the event by welcoming attendees and highlighting achievements accomplished through the strategic and sustainability plans, both concluding this year. “We have solidified our position as a reference center and achieved financial stability, which will be crucial in the coming years,” emphasized Dr. Surrallés.

The presentation detailed key accomplishments, such as an increase in publications in high-impact journals and the number of theses supervised by IR Sant Pau. One area that has shown significant growth is the dissemination of the institute’s activities. “This was established as a priority because it’s important not only to conduct research but also to be accountable to society for the achievements reached,” said Dr Surrallés.

Looking ahead, Dr Surrallés expressed optimism and outlined the five pillars of the new strategic plan for IR Sant Pau for the 2025–2030 period. These include the need to continue transforming the institution, embracing change without fear; striving for excellence in both scientific output and management; continuing to grow and meeting new demands to remain competitive in an increasingly globalized world; generating a positive impact on health and adding value to society; and strengthening the internationalization of IR Sant Pau, reflecting the organization’s potential and quality.

Dr Valentín Fuster and the Importance of Early Intervention

The event also featured Dr Valentín Fuster, General Director of the Spanish National Center for Cardiovascular Research (CNIC), under the Carlos III Health Institute (ISCIII), and Director of the Cardiovascular Institute at Mount Sinai Hospital in New York, recently renamed Mount Sinai Fuster Heart Hospital in his honor.

In his lecture, Dr Fuster discussed a shift in his research focus from studying cardiovascular disease to understanding how health works. He emphasized the importance of early intervention. “Our research shows that between the ages of 20 and 40, cardiovascular risk factors such as hypertension or high cholesterol have a greater impact than when people reach 65,” he explained.

Dr Fuster also highlighted how recent technological advancements have enabled the identification of subclinical arterial disease in individuals as young as 30, which can later develop into more serious conditions. He stressed the need for educational and training initiatives at an early age, referencing his work with the children’s television program Sesame Street, where a character inspired by him, Dr Ruster, was created. “While our studies indicate initial improvement, we’ve found that bad habits tend to return over time, necessitating new interventions to reinforce the messages we aim to convey,” he added.

A Day Rich in Content

Before Dr Fuster’s lecture, several scientific sessions and panels took place. The first panel featured Adrià Comella, CEO of Sant Pau Hospital; Josep Maria Campistol, CEO of Hospital Clínic de Barcelona; Anna Arán, CEO of Hospital Parc Taulí; and Manel del Castillo, CEO of Hospital Sant Joan de Déu. This panel was a novelty in the event, which traditionally had a more purely scientific focus. This year, the inclusion of perspectives from these leading university hospitals aimed to analyze the challenges and complexities of conducting research in large hospitals.

All participants emphasized the importance of research in improving healthcare. They highlighted that the work carried out in hospitals must be complemented by the research conducted in institutes, which, in turn, benefits from close collaboration with clinical practice. This creates what is known as a virtuous circle. “It is essential to maintain a commitment between the hospital and the research institute, working together to address the challenges posed by our patients,” said Adrià Comella.

Other panels focused on more scientific content, such as research and technological innovation, and the latest developments in neuroscience—a field in which IR Sant Pau is a reference center. Notable advancements include the discovery earlier this year of a genetic form of Alzheimer’s disease linked to the APOE4 gene.

The 2024 Sant Pau Research Day reaffirmed Sant Pau’s commitment to scientific excellence and the continuous improvement of healthcare, solidifying its position as a benchmark in biomedical research. The event also served as an opportunity to strengthen collaboration between institutions and share knowledge driving the medicine of the future.

Dr Maria Torrens, a researcher in the Intensive Care Medicine research group at the Sant Pau Research Institute (IR Sant Pau) and an intensivist at the Intensive Care Unit (ICU) of Sant Pau Hospital, has been honoured with one of the research grants awarded by the Spanish Society of Intensive Care, Critical Care and Coronary Units (SEMICYUC). This grant, worth €10,000, acknowledges the scientific and clinical value of the research project titled “Quantification of systemic congestion using ultrasonography as a predictor of weaning failure from mechanical ventilation”. The project is coordinated by Dr Lluís Zapata and Dr Carles Subirà, members of the same Intensive Care Medicine research group.

The term weaning refers to the gradual process of disconnecting a patient from mechanical ventilation, with the goal of restoring independent breathing capacity. This is a critical moment in the management of patients who have required ventilatory support, as failure in this process can lead to significant complications and prolonged ICU stays.

This prospective, observational, and multicentre study primarily aims to identify, through ultrasound, patients at risk of failing the disconnection from mechanical ventilation before initiating spontaneous breathing trials. Ultrasound evaluation of systemic venous congestion is presented as an innovative, non-invasive tool that could significantly enhance the weaning process, reducing dependency on mechanical ventilation and thereby improving the prognosis for critically ill patients.

The awarding of this grant highlights the clinical research excellence at IR Sant Pau and its commitment to innovation as a fundamental pillar of progress in intensive care medicine. These recognitions strengthen the institute’s dedication to generating scientific knowledge that directly contributes to better patient care.

We at IR Sant Pau extend our congratulations to Dr Maria Torrens and her team for this achievement and their contribution to advancing high-impact clinical research projects. We will continue to support the efforts of our professionals to remain at the forefront of biomedical research in service of society.

Today, the HUB Alzheimer Barcelona was launched, a pioneering alliance that brings together the leading research centres and public hospitals in the city to strengthen Barcelona’s leadership in Alzheimer’s disease research and care. Among the founding members of this initiative, promoted by the Pasqual Maragall Foundation with the support of the Barcelona City Council, is the Hospital de Sant Pau, recognised as one of the leading institutions in Alzheimer’s research and care in Spain and internationally.

Dr Alberto Lleó, director of the Neurology Department at Hospital de Sant Pau and researcher with the Neurobiology of Dementias Group at the Sant Pau Research Institute (IR Sant Pau), highlighted that this alliance will “create synergies among leading centres to implement new biological therapies and strengthen clinical research”.

What actions will Sant Pau undertake?

Hospital de Sant Pau will play a prominent role by leading actions such as training researchers through collaborative PhD programmes and the implementation of new treatments in clinical practice.

Through this initiative, Sant Pau reaffirms its commitment to research and the development of innovative solutions to improve the lives of people affected by Alzheimer’s, consolidating Barcelona as a global hub in this field.

Which entities are part of this alliance?

The HUB Alzheimer Barcelona is spearheaded by the Pasqual Maragall Foundation, the founding centre, with the support of the Barcelona City Council. It also includes Hospital de Sant Pau, Hospital Clínic, Hospital del Mar, and the Vall d’Hebron University Hospital, as well as two leading institutions specialising in Alzheimer’s research: the Barcelonaβeta Brain Research Centre (BBRC) and the Ace Alzheimer Center Barcelona.

The presentation event held today featured the Mayor of Barcelona, Mr Jaume Collboni, Dr Arcadi Navarro, Director General of the Pasqual Maragall Foundation and its research centre, the BBRC; Dr Mercè Boada, representing the member centres of the HUB Alzheimer Barcelona; and Cristina Sáez, a science journalist. The event was closed by the Minister of Health, Ms Olga Pané.

Researchers at the Sant Pau Research Institute (IR Sant Pau) have taken part in a pioneering study that has demonstrated, for the first time, that gene therapy can be an effective and safe therapeutic option for patients with Fanconi anaemia, a rare condition characterised by progressive bone marrow failure and a high predisposition to cancer. The results, published in the prestigious journal The Lancet, are the culmination of over two decades of preclinical research and seven years of patient follow-up.

Fanconi anaemia, a genetic disease often diagnosed in childhood, leads to the gradual loss of blood cells, causing severe infections, fatigue, and bleeding. Until now, the only definitive treatment has been a bone marrow transplant from a compatible donor, a procedure requiring prior chemotherapy and associated with significant risks, including prolonged hospitalisation.

No clinical studies conducted to date had succeeded in making gene therapy effective for this complex disease. However, the recently published work has demonstrated that, even without chemotherapy conditioning, the autotransfusion of haematopoietic stem cells corrected for the genetic defect leads to a progressive increase in corrected cells in most patients. In two treated patients, the proportion of corrected cells exceeded 90%, effectively halting the disease’s natural progression, which would otherwise involve the steady depletion of blood cells.

The Phase I/II clinical trial was led by the Fundación Hospital Niño Jesús in Madrid, with the long-term follow-up study overseen by Rocket Pharmaceuticals Inc. Dr Julián Sevilla, supported by Dr Josune Zubicaray—both haematologists at the Advanced Therapies Unit of the Niño Jesús University Children’s Hospital and members of the CIBER for Rare Diseases (CIBERER)—served as principal investigators under the scientific direction of Professor Juan Bueren. Dr Paula Río, the study’s lead author, and Dr Susana Navarro, both researchers at CIEMAT—a body under the Ministry of Science, Innovation and Universities—along with the Rare Diseases Area of CIBERER and the Fundación Jiménez Díaz Health Research Institute (IIS-FJD), were also key collaborators. Additionally, the study was coordinated with the National Advanced Therapies Network (TERAV), promoted by the Carlos III Health Institute.

Until now, bone marrow transplants from healthy, compatible donors were the sole definitive treatment for bone marrow failure in these patients. While this therapy has improved significantly over recent years, it still requires chemotherapy conditioning to prevent rejection and is linked to both short- and long-term risks, often necessitating extended hospital stays.

Sant Pau’s Contribution

Professor Jordi Surrallés, director of IR Sant Pau and CIBERER group leader, was among the researchers involved in the study. “The teamwork within the National Fanconi Anaemia Research Network has positioned Spain as a global leader in advanced therapies for this disease. This research marks an unprecedented milestone in the treatment of Fanconi anaemia,” he stated.

The gene therapy detailed in The Lancet was developed with contributions from numerous teams responsible for the various stages of its application. The collection and purification of stem cells mobilised from patients’ blood were carried out at Niño Jesús University Children’s Hospital in Madrid, Vall d’Hebron University Hospital in Barcelona, and the Catalan Blood and Tissue Bank, coordinated by Dr Cristina Díaz de Heredia. These cells were then corrected for the genetic defect ex vivo at the CliniStem Cleanroom of CIEMAT using a genetically modified virus (a lentiviral vector carrying the FANCA gene) developed earlier by the research team.

Once corrected for the genetic defect, the cells were reinfused into patients at the Paediatric Haematology Service of the Niño Jesús Hospital as an autotransfusion, without requiring chemotherapy. This allowed patients to be discharged just 72 hours after the infusion.

Over 20 Years of Research

The investigation that led to these results began more than two decades ago with preclinical studies at CIEMAT laboratories, where a lentiviral vector carrying the FANCA gene was developed to correct the genetic defect in stem cells. This vector, recognised as an Orphan Drug in Europe and the United States, paved the way for the clinical trials culminating in this publication in The Lancet.

The study confirms that chemotherapy can be avoided in patients with Fanconi anaemia—a remarkable achievement given the fragility of these patients’ stem cells. Researchers have shown that an autotransfusion of corrected cells is sufficient to halt, and in some cases even reverse, bone marrow failure.

Towards a Consolidated Therapy

Rocket Pharmaceuticals is currently working with the European Medicines Agency and the US Food and Drug Administration to obtain marketing authorisation for this therapy. Meanwhile, preclinical studies are underway to expand this therapeutic approach to other subtypes of Fanconi anaemia, potentially increasing the number of patients who could benefit from this innovation.

This breakthrough offers new hope for patients and their families. Alicia de las Heras, president of the Fanconi Anaemia Foundation, expressed: “A few years ago, this advancement seemed unimaginable. Now, thanks to science and the tireless efforts of our specialists, we have real hope for our children.”

This study reinforces Spain’s leadership in developing innovative therapies for rare diseases, consolidating biomedical research as a driver of global health progress.

Article de referència:

Haematopoietic gene therapy of non-conditioned patients with Fanconi anaemia-A: results from an open-label phase I/II and long-term clinical trials. Río, P., Zubicaray, J., Navarro, S., Gálvez, E., Sánchez-Domínguez, R., Nicoletti, E., Sebastián, E., Rothe, M., Pujol, R., Bogliolo, M., John-Neek, P., Bastone, A. L.,Schambach, A., Wang, W., Schmidt, M., Larcher, L., Segovia, J.C., Yáñez, R. M., Alberquilla, O., Díez, B., Fernández-García, M., García-García, L.,  Ramírez, M., Galy, A., Lefrere, F., Cavazzana, M., Leblanc, T., García de Andoin, N., López-Almaraz, R., Catalá, A., Barquinero, J., Rodríguez-Perales, S., Rao, G., Surrallés, J., Soulier, J., Díaz-de-Heredia, C., Schwartz, J. D., Sevilla, J., Bueren, J.A.,& on behalf of the FANCOLEN-1 gene therapy investigators. The Lancet, 2024, Vol 404. https://www.thelancet.com/journals/lancet/article/PIIS0140-6736(24)01880-4/fulltext

The Sant Pau Research Institute (IR Sant Pau) continues to establish itself as a benchmark in the field of biomedical research. Three of its outstanding researchers, Dr José M. Guerra, Dr Gemma Vilahur, and Dr José Martínez González, have been selected to join the new board of directors of the Networked Biomedical Research Centre on Cardiovascular Diseases (CIBERCV). This network, which brings together the leading cardiovascular research groups in Spain, aims to advance the research, prevention, diagnosis, and treatment of these diseases, which are among the leading causes of mortality worldwide.

Dr José M. Guerra, head of the Clinical and Translational Cardiology Research Group at IR Sant Pau, will co-lead the Electrophysiology and Arrhythmias Programme with Dr Eva Delpón, from Universidad Complutense de Madrid (UCM). The programme’s goal is to promote research into the mechanisms and factors involved in the onset and progression of cardiac arrhythmias, as well as their treatment, prevention, and measures to mitigate their negative consequences. It aims to develop collaborative and high-impact research projects, fostering interaction between basic, clinical, and epidemiological groups within CIBERCV, other areas of CIBER knowledge, and national and international centres of excellence. The programme’s findings will contribute to scientific understanding and translate these discoveries into practical applications that improve patients’ quality of life.

Dr Gemma Vilahur, head of the Molecular Pathology and Therapeutics of Atherothrombotic and Ischaemic Diseases Research Group at IR Sant Pau, will co-lead the Atherosclerotic Cardiovascular Disease (ECVA) Programme alongside Dr Borja Ibáñez from the Spanish National Centre for Cardiovascular Research (CNIC). This programme encompasses the study and treatment of atherosclerotic disease and its clinical complications, including acute and chronic coronary syndrome, abdominal aortic aneurysm, stroke, and ischaemia-reperfusion processes. The ECVA Programme will adopt a comprehensive and multidisciplinary approach, fostering collaboration among CIBER groups and stimulating basic, translational, and clinical research with the aim of improving cardiovascular health.

Finally, Dr José Martínez González, a CSIC researcher within the Cardiovascular Remodelling Regulatory Mechanisms Group at IR Sant Pau, will head the Training and Mobility Programme. This cross-cutting initiative seeks to equip researchers with tools and competencies in both clinical and basic research to address current challenges in cardiovascular diseases. It will also promote knowledge exchange among CIBERCV groups, fostering a collaborative environment that drives the generation of new ideas and innovative solutions.

These appointments not only recognise the talent and scientific excellence of IR Sant Pau but also reinforce the role of its researchers as thought leaders in the cardiovascular field. Their experience and prestige endorse their ability to lead strategic programmes within CIBERCV, setting the agenda in key areas of biomedical research.

With their participation in the new board of directors, significant progress is expected in understanding and treating cardiovascular diseases, as well as inspiring and guiding the next generation of researchers. These appointments consolidate IR Sant Pau’s status as an international leader in scientific innovation and development, highlighting the global impact of its work on improving cardiovascular health and patient quality of life.

Researchers from the Institut de Recerca Sant Pau (IR Sant Pau), in collaboration with the Headache and Neuralgia Unit at Hospital de Sant Pau, the Universitat Autònoma de Barcelona, and the Universitat Pompeu Fabra, have published a pioneering study in the journal Headache on the use of deep brain stimulation (DBS) for treating chronic refractory cluster headache (CRCH). This research, the first of its kind to analyse the mechanisms of action through connectomics—an emerging field studying networks and connections between brain areas to understand how they interrelate and function together—offers new findings that could mark a breakthrough in the treatment of this highly debilitating disease.

Chronic cluster headache is a rare condition with severe symptoms that are difficult to treat. It is estimated that only 10% of patients with cluster headache—already an uncommon condition affecting approximately 1 in 1,000 people—develop a chronic form. Of this small group, only 10% are unresponsive to any available treatment, becoming “refractory” patients. Those affected typically experience multiple daily episodes of intense pain, which interfere with their personal and professional lives, causing significant economic and emotional impact for both the patients and the healthcare system.

The study included 14 patients with an average age of 42 years, all impacted by CRCH. DBS therapy was applied to the ventral area of the midbrain, a strategic stimulation point located in the lateral region of the ventral tegmental area (VTA), identified in the study as a “sweet spot” for generating a positive response. Clinical outcomes were monitored at intervals of 3, 6, 12, and 24 months, providing detailed data on the long-term efficacy of the intervention.

Clinical outcomes and headache burden reduction

The study used the “headache burden” (HAL) as the primary success indicator, a composite index considering the frequency, duration, and severity of pain attacks. The results showed a significant reduction in HAL levels among the 14 patients: from an average of 424 points at the start of the study, decreasing to 146 points at 24 months, representing an average reduction of 65% in the total burden of the disease.

Within the studied group, more than half (58%) of the patients achieved a reduction of over 50% in their HAL, experiencing considerable improvements in their quality of life, with the number of crises decreasing from five or six daily to just one or two crises per week. An additional 21% of patients showed a partial response to treatment, reducing their burden by 30–50%, while another 21% achieved minimal improvement (less than 30%).

Innovation in treatment and advances in brain connectomics

In addition to the notable clinical success, this research stands out for its pioneering analysis of the brain pathways involved in the improvement of patients treated with DBS. Using connectomics, the team identified the possible involvement of corticorubral tracts, a network of connections between the cerebral cortex, the red nucleus—located in the midbrain—and the cerebellum, which appear to play a key role in the beneficial effects of DBS. This analysis provides a better understanding of how and why some patients respond to the treatment and lays the groundwork for future research aimed at optimising candidate selection and improving clinical outcomes.

Dr Juan Ángel Aibar, from the Neurosurgery Research Group at IR Sant Pau and co-author of the study, explains that “DBS offers hope for those CRCH patients who find no relief in any other therapy. Advancing our understanding of the brain pathways activated by this intervention helps us comprehend the mechanisms behind its effectiveness, which could, in the future, allow us to identify the most suitable patients for this type of treatment.”

A path to excellence in treatments for refractory diseases

Hospital Sant Pau is currently the only centre in Spain with an established DBS programme for treating refractory cluster headache. This advance reflects the commitment of the hospital and IR Sant Pau to positioning themselves as a reference centre for treating refractory diseases—those for which all conventional therapies have failed.

The authors of the study highlight that while the treatment has shown high effectiveness in many patients, it is important to maintain realistic expectations, as this therapy does not cure the disease but significantly reduces its impact. The positive results observed in this research, particularly in male patients, also underline the need for further studies investigating how biological differences might affect the response to therapy in men and women.

Future perspectives

The Sant Pau team will continue its research, seeking to refine the therapies available for patients with chronic refractory cluster headache and deepen the understanding of DBS mechanisms of action. According to their estimates, there are still individuals in Spain who could benefit from this therapy but are not currently receiving appropriate treatment due to a lack of awareness about this innovative option.

This study reinforces the importance of reference centres and underscores the role of dissemination and education within the medical and scientific communities to ensure that patients with extreme and unmet needs can access cutting-edge care.

Reference article:

Aibar-Durán, J. Á., González, N., Mirapeix, R. M., Sánchez-Mateos, N. M., Arsequell, C. R., Pichot, M. B., … Rodríguez Rodríguez, R. (2024). Deep brain stimulation for chronic refractory cluster headache: A case series about long-term outcomes and connectivity analysis. Headache. doi:10.1111/head.14875

The Sant Pau Research Institute (IR Sant Pau) and the Fundació Amics Joan Petit Nens amb Càncer have launched an innovative project aimed at improving the quality of life for children with cancer who need to undergo a bone marrow transplant. This initiative seeks to demonstrate that physical exercise prior to the procedure, tailored to their functional abilities, can be safe and provide significant benefits during the treatment process.

With a budget of €100,000, the project will run for three years. The necessary funds are being raised through various charitable activities organised by the Fundació Joan Petit. Among these is the campaign “Let’s Fill the Roller Hockey Rinks with the Joan Petit Bracelet,” driven by the Catalan Skating Federation, which encouraged athletes and fans to purchase a solidarity bracelet to support young patients and their families. This campaign is set to be repeated early next year. Funds already raised have been delivered to kick-start the project, and future initiatives are expected to help complete the total budget.

Charity Event and Fund Handover

On Tuesday, 26th November, a ceremony was held in the lobby of the Hospital Sant Pau, where the Fundació Joan Petit delivered funds raised through the Catalan Skating Federation. The event also featured a symbolic hockey match played by children from different teams, held in the corridors of the hospital’s Paediatrics ward. Players from F.C. Barcelona, Xavier Barroso and Sergi Aragonès, participated alongside coach David Cáceres, and handed out gifts to the hospitalised children.

During the event, Joan Torner, president of the Fundació Joan Petit Nens amb Càncer, highlighted the resilience shown by children facing cancer, drawing a parallel with roller hockey: “In hockey, when you fall, you must get up and keep playing. Similarly, these children teach us every day that despite setbacks, you must rise and move forward with strength and hope.”

The Value of Prehabilitation Exercise

The project, named HIIT-FIT-KIDS-ALLO-T-TRIAL, is a pilot programme combining supervised physical exercise for children and adolescents preparing for an allogeneic haematopoietic progenitor transplant (allo-HPT). This medical procedure replaces diseased bone marrow with healthy marrow and is used to treat conditions such as leukaemia, lymphoma, and certain hereditary syndromes. While this treatment significantly increases survival rates, it also raises the risk of cardiovascular complications, exacerbated by the side effects of chemotherapy and radiotherapy.

The project’s innovative approach involves implementing a prehabilitation programme —planned and supervised exercise before the transplant— to strengthen the patients’ physical condition. According to Dr Roser Álvarez-Pérez, principal investigator of the project and researcher in the Paediatrics group at IR Sant Pau, “although the concept of prehabilitation has been successfully tested in adults, it remains an unexplored field in paediatrics. This project aims to improve patients’ functional capacity and cardiovascular function, preparing them to face the transplant in better physical condition while minimising the impact of prolonged hospitalisation.”

The study comprises three key phases: before, during, and after the transplant. The first phase, known as prehabilitation, begins four to six weeks before the procedure and includes a tailored exercise programme based on the patient’s functional capacity, assessed through tests such as blood analysis, electrocardiogram, echocardiogram, and an exercise stress test.

During the hospitalisation phase, supervised exercises will be performed daily in the patient’s room, conditions permitting. Post-hospitalisation rehabilitation will continue for six months, combining in-hospital sessions with activities that patients can carry out at home.

The intervention group will participate in a structured programme incorporating high-intensity interval training (HIIT), a method alternating short periods of maximum effort with rest, optimising results even with limited time. In contrast, the control group will receive conventional care, including standard physical activity recommendations for these patients, but with less structured exercise.

Ensuring the safety of the programme is a priority, with evaluations to rule out contraindications such as fever or low platelet counts. “The primary goals of the study are to determine the programme’s feasibility —whether children can consistently participate given treatment limitations— and its safety, ensuring it does not cause additional complications,” Dr Álvarez adds.

Future Prospects

In addition to immediate benefits, the project aims to promote long-term healthy habits, integrating exercise as a key component of medical treatment. According to Dr Álvarez, “just as pre-season training improves fitness to face competition, prehabilitation with exercise prepares patients to tackle the challenge of the transplant with more energy and strength.”

With a planned duration of three years and an estimated annual participation of 15 patients, this innovative programme could lay the groundwork for future multi-centre research and establish prehabilitation exercise as a fundamental tool in paediatric cancer treatment.

This project not only represents progress in paediatric medicine but also serves as an example of how collaboration between institutions and community support can profoundly impact the lives of children facing severe illnesses.

IR Sant Pau has been recognised with the award for best oral presentation at the 15th National Congress of Paediatric Cardiology and Congenital Heart Disease (SECPCC), recently held in Murcia, for a study exploring the genetic basis of paediatric myocarditis. This accolade, granted at the main scientific event for paediatric cardiologists in Spain, highlights the significance and impact of this discovery in the field of cardiovascular medicine.

Myocarditis, an inflammation of the heart muscle, has traditionally been considered an acquired condition, generally caused by viral infections. However, recent research suggests that some cases of myocarditis may have an underlying genetic component. The study, led by Dr Roger Esmel, a member of the Paediatrics research group at IR Sant Pau and a paediatric cardiologist at Hospital Sant Pau, has delved into this hypothesis, focusing on paediatric patients, a group that has received limited attention in this area.

“The incidence of myocarditis is far lower than that of inflammatory conditions in other organs, such as gastroenteritis, bronchitis, or meningitis, raising the question of why some individuals develop myocarditis while others do not, even when exposed to the same infections. Our study seeks answers in genetics,” explained Dr Esmel.

Methodology and Findings

The study, conducted over eight years in collaboration with multiple medical centres, analysed paediatric patients with uncomplicated myocarditis—those who did not experience severe heart failure or arrhythmias. Using state-of-the-art Next Generation Sequencing (NGS) technologies, the researchers identified pathogenic or likely pathogenic genetic variants in 23% of cases.

These findings represent a significant breakthrough, demonstrating that nearly one in four paediatric patients with myocarditis could have an underlying genetic predisposition. This discovery challenges the perception of myocarditis as purely an acquired disease and opens the door to new strategies for prevention and treatment.

A Shift in Clinical Management

Until now, many patients with uncomplicated myocarditis have been discharged quickly without thorough follow-up. However, the findings indicate that these patients may have a hidden risk of developing cardiomyopathies in the future, underscoring the importance of genetic evaluations in specific subgroups. “The aim is to identify at-risk patients from the first episode and provide them with more rigorous follow-up. This will not only improve their prognosis but also prevent severe complications in adulthood,” added Dr Esmel.

In addition to immediate clinical implications, the study also highlights the need to advance towards a personalised medicine model. Identifying clinical and radiological factors associated with genetic variants will enable the optimisation of medical resources, focusing genetic testing on patients with a higher likelihood of genetic predisposition. Despite the promising findings, Dr Esmel cautions that this is only the beginning. “Broader studies are needed to confirm our observations and establish robust recommendations that can be applied in clinical practice,” he noted.

Researchers from the Institute of Biomedical Research of Barcelona (IIBB-CSIC) and the Sant Pau Research Institute (IR Sant Pau), led by Dr Vicenta Llorente Cortes, in collaboration with teams from the CIBER areas of Cardiovascular Diseases (CIBERCV) and Diabetes and Associated Metabolic Diseases (CIBERDEM), have developed peptides that inhibit the aggregation of LDL cholesterol (low-density lipoproteins), thereby preventing the formation of atherosclerotic plaques in an experimental model of hypercholesterolaemia.

The study, recently published in the journal Atherosclerosis, also involved teams from Miguel Servet Hospital in Zaragoza and the University of Basilicata in Italy.

Atherosclerosis, one of the leading causes of heart attacks and strokes, is triggered by the accumulation of LDL cholesterol in the arterial walls. Once trapped in the arterial wall, LDL particles undergo modifications that promote the progression of plaques, which can rupture and obstruct normal blood flow by inducing the formation of clots responsible for acute myocardial infarction.

These newly developed peptides represent a promising and innovative advance in the treatment of this disease. Their potential is especially significant for patients genetically predisposed to atherosclerosis, such as those with familial hypercholesterolaemia, for whom current therapeutic options are limited and insufficient to reduce cardiovascular risk. This underscores the urgent need for new solutions.

Preventing Plaque Formation

As explained by Dr Vicenta Llorente Cortes, who leads the Lipids and Cardiovascular Pathology research group at IIBB-CSIC, “In this study, we developed peptides that bind to and stabilise the structure of LDL particles. Furthermore, in a humanised murine model for lipoproteins, we demonstrated that administering these peptides inhibits atherosclerosis by preserving the structural integrity of LDL.”

This effect, Dr Llorente elaborates, is achieved by stabilising the conformation of ApoB100, a protein found in LDL particles that is crucial for maintaining their integrity and preventing their modification within the arteries. “We also demonstrated the efficacy of this treatment in LDL samples isolated from patients with familial hypercholesterolaemia,” she adds.

The relevance of this entirely novel treatment lies in its unique ability to stabilise the structure of ApoB100 and preserve the integrity of LDL particles in the vascular wall, preventing their aggregation—a key process in the development of atherosclerosis.

Reference Article:

Benitez-Amaro, A., Garcia, E., La Chica Lhoëst, M. T., Martínez, A., Borràs, C., Tondo, M., … Llorente-Cortés, V. (2024). Targeting LDL aggregation decreases atherosclerotic lipid burden in a humanised mouse model of familial hypercholesterolaemia: Crucial role of ApoB100 conformational stabilisation. Atherosclerosis, (118630), 118630. doi:10.1016/j.atherosclerosis.2024.118630

L’Institut de Recerca Sant Pau (IR Sant Pau) ha estat reconegut en la primera edició de les beques de recerca Miquel Rutllant, atorgades per la Fundació Investigació Salut i Progrés (FISP), que tenen com a objectiu promoure projectes liderats per investigadors emergents per accelerar el desenvolupament de solucions terapèutiques innovadores en teràpies avançades, medicina personalitzada i medicina de precisió en malalties oncohematològiques. En aquest marc, el Grup d’Oncogènesi i Antitumorals ha rebut finançament per al projecte Nanoinmunoteràpia de precisió contra cèl·lules mare leucèmiques CXCR4+ en Leucèmia Mieloide Aguda, liderat pel Dr. Ugutz Unzueta, investigador Miguel Servet de l’IR Sant Pau.

Aquest projecte se centra en el desenvolupament d’una nova estratègia terapèutica personalitzada basada en nanoinmunoteràpia per al tractament de la leucèmia mieloide aguda (LMA). La innovadora aproximació combina una nanomedicina de precisió, dissenyada pel grup en col·laboració amb el Grup de Nanobiotecnologia de la Universitat Autònoma de Barcelona (UAB) i patentada conjuntament per la UAB i l’IR Sant Pau, que permet l’eliminació selectiva de cèl·lules mare leucèmiques CXCR4+. A més, aquesta estratègia pretén activar el sistema immunitari contra les cèl·lules malignes mitjançant la inducció d’una mort cel·lular immunogènica, alhora que integrarà bloquejadors de punts de control immunitari per potenciar encara més la resposta del sistema immune.

L’impacte potencial d’aquest projecte és significatiu, ja que, si es demostra l’eficàcia del nanoconjugat desenvolupat, la leucèmia mieloide aguda podria incloure’s en els assajos clínics de Fase I que l’equip està preparant amb la spin-off biotecnològica Nanoligent. Aquesta empresa, fundada per investigadors de la UAB i l’IR Sant Pau, és llicenciatària de les patents relacionades amb aquestes nanomedicines i preveu iniciar aquests assajos en els pròxims anys.

El projecte compta amb la participació d’un equip multidisciplinari format pel Dr. Ugutz Unzueta, la Dra. Isolda Casanova, la Dra. Lorena Alba, Annabel Garcia i Luis Carlos Navas, tots ells membres del Grup d’Oncogènesi i Antitumorals i del CIBER en Bioenginyeria, Biomaterials i Nanomedicina (CIBER-BBN), que treballen conjuntament per oferir noves perspectives terapèutiques per a una malaltia tan complexa com la leucèmia mieloide aguda. Aquesta beca suposa un pas més en el compromís de l’IR Sant Pau amb la recerca biomèdica d’excel·lència, posant el focus en solucions innovadores que puguin millorar la qualitat de vida dels pacients.

The 3cat Foundation has announced the research projects awarded in the latest edition of La Marató de TV3 and Catalunya Ràdio 2023, dedicated to sexual and reproductive health. A total of 26 research projects, led by 52 research teams, will receive funding. The Sant Pau Research Institute (IR Sant Pau) has been recognised with two projects coordinated by the centre and participation in a third. These scientific works address some of the most critical challenges in sexual and reproductive health. The selected studies aim to improve the treatment of preeclampsia, optimise the follow-up of patients with endometriosis, and advance the prevention and management of sexually transmitted infections (STIs).

Dr Elisa Llurba, head of the Perinatal and Women’s Medicine Research Group at IR Sant Pau, was one of the researchers participating in the presentation event held this morning at TV3’s facilities. In her speech, she highlighted the importance of this recognition for research on diseases that have traditionally been overlooked and underfunded, especially those affecting women and pregnancy. She emphasised that “true health cannot exist without women’s health” and underscored the gender perspective as a fundamental element to advance the health of society as a whole.

During the same event, Carme Figueras, Vice President of the Board of Trustees of the La Marató de 3Cat Foundation, highlighted the significance of this initiative, stating that “these initiatives not only drive research but also shed light on the social impact of often-silenced diseases.” Figueras also emphasised the critical role of La Marató in raising public awareness and fostering collective commitment, which translates into resources dedicated to scientific progress. These actions are key to reducing health inequalities and ensuring a future with more opportunities for everyone.

Innovative Treatment for Preeclampsia

The first project, led by Dr Elisa Llurba, addresses preeclampsia, a condition that affects one in ten pregnant women and often has severe consequences for both the mother and the baby. This condition is the second leading cause of maternal death and is linked to one in three premature births, as well as an increased risk of future cardiovascular diseases in both mothers and newborns.

“Our study explores the use of statins, a drug used to treat cholesterol, to improve placental function, prolong complicated pregnancies, and reduce the risk of severe complications,” explained Dr Llurba. The multicentre clinical trial, which will include 150 patients, involves collaboration with Hospital Clínic, Vall d’Hebron Hospital, and the Autonomous University of Barcelona. This approach aims to transform the management of a condition that, to date, has no cure, providing new solutions to improve outcomes for both mothers and babies.

Monitoring Patients with Endometriosis

The second project, led by Dr Rocío Luna, a researcher in the Gynaecological and Peritoneal Oncology Research Group at IR Sant Pau, analyses the progression and quality of life of patients with endometriosis, a chronic gynaecological condition affecting one in ten women of reproductive age. Endometriosis profoundly impacts patients’ quality of life and their families, but it often takes between 8 and 15 years to diagnose, and there are still no specific or effective treatments.

This project seeks to identify pharmacological and non-pharmacological factors that improve quality of life and establish guidelines for more effective clinical and ultrasound monitoring. “The goal is to generate new guidelines for comprehensive and personalised treatment that reduces complications and provides evidence-based solutions,” noted Dr Luna.

Breaking Barriers in STIs Among Young People

The third project, involving Dr Cristina Rius, head of the Communicable Diseases Research Group at IR Sant Pau, focuses on the prevention, early diagnosis, and management of STIs among young people in Catalonia. This study, led by Dr Cristina Agustí from the Health Sciences Research Institute of the Germans Trias i Pujol Hospital, also works on partner notification to reduce the spread of these infections. The goal is not only to curb infections, but also to break the stigma associated with these conditions and provide accessible tools for their prevention and treatment.

Recognition for Transformative Research

These three projects are part of the 26 selected by La Marató 2023, an edition focused on sexual and reproductive health, contributing to raising awareness and support for conditions affecting millions of people worldwide, especially women and young people. These often-overlooked and insufficiently addressed conditions have a profound impact on people’s quality of life and represent a crucial challenge for healthcare systems.

This recognition reinforces IR Sant Pau’s commitment to scientific innovation, public health improvement, and knowledge transfer to address historically neglected issues. Sant Pau reaffirms its role as a leader in biomedical research and as an advocate for the importance of applying a gender perspective in scientific research.

Dr Pablo Alonso, Director of the Epidemiology, Public Health, and Primary Care Area at the Sant Pau Research Institute and researcher at the Iberoamerican Cochrane Centre, has once again been recognised as one of the most cited scientists on the prestigious Highly Cited Researchers 2024 list, published by Clarivate Analytics. This achievement places him among the select group of researchers whose scientific output ranks in the top 1% most referenced globally in their respective fields.

Dr Alonso focuses on the development and application of scientific tools that guide clinical practice and health policy decisions based on the best available evidence. His commitment to high-quality research and innovation has led him to stand out not only nationally but also internationally.

“This recognition as a highly cited author is, above all, a reflection of the collective work and dedication of the GRADE group to high-quality scientific evidence and its application to clinical practice. This award is not only an individual acknowledgement but also a tribute to the interdisciplinary collaboration and commitment of everyone in the GRADE group who work tirelessly to improve clinical guidelines and health policies on a global scale,” explained Dr Pablo Alonso.

The Sant Pau Research Institute celebrates this significant recognition, which highlights the scientific excellence of its researchers and reinforces its commitment to generating knowledge for the benefit of society. Sant Pau congratulates Dr Alonso on this well-deserved achievement, which once again emphasises the importance of his contribution to scientific advancement.

Clarivate’s Highly Cited Researchers List

Since 2001, Clarivate has published an annual list recognising the elite group of international scientists and social researchers who have demonstrated outstanding global influence in their respective fields of study.

This prestigious selection is based on data from Web of Science™ and an in-depth analysis conducted by experts from the Institute for Scientific Information (ISI) at Clarivate. Researchers included in the list have authored multiple Highly Cited Papers™, articles ranked in the top 1% by citation count in their research field and year of publication over the past decade in Web of Science™. The Clarivate list is therefore an indicator of scientific excellence and highlights those leading the progress of knowledge in their disciplines.

Access the 2024 Clarivate Highly Cited Researchers list by clicking here.

What connection could there possibly be between thrombosis, a severe disease that causes one death every minute in Europe, and high-altitude mountains? Much more than we might imagine. At high altitudes, environmental conditions such as hypoxia and extreme physical effort can trigger physiological responses that increase the risk of blood clot formation, a situation similar to what people affected by thrombosis experience. This connection not only offers an opportunity to raise awareness about the disease but also draws parallels between the challenges of climbing mountains and the fight against a complex and often deadly condition.

In the charity book Life Flows Through Your Veins, the elite of global Himalayan climbing has joined forces with the Sant Pau Research Institute (IR Sant Pau) and the Activa’TT association to raise awareness about the importance of this disease and to collect funds for its research at IR Sant Pau. This pioneering project combines the majesty of mountaineering with the scientific challenge of combating thrombosis, a disease that causes 10 million deaths worldwide each year.

This initiative, led by Dr. José Manuel Soria, head of the Complex Disease Genomics Group at IR Sant Pau, and journalist Jordi Viader, gathers the experiences of fourteen renowned mountaineers who have conquered some of the world’s highest peaks. In the book, each recounts not only their battle against the adversities of high-altitude climbing but also how these experiences resemble the resilience needed to overcome serious illnesses like thrombosis.

The Modernist Site of Sant Pau served as the venue for the book’s presentation, where, alongside Dr. Soria and Jordi Viader, ten of the fourteen participating mountaineers were present: Núria Balagué, Javier Camacho, Rosa Fernández, Ferran Latorre, Jesús Morales, Juanito Oiarzabal, Jordi Pons, Lina Quesada, Ester Sabadell, and Carlos Soria.

Additionally, Núria Balagué, Juanito Oiarzabal, and Lina Quesada shared their personal experiences with thrombosis, a disease all three suffered from, specifically in high-altitude environments. “I had always adapted very well to high altitudes until I had my first pulmonary embolism, which took me to the hospital in Kathmandu,” explained Oiarzabal, adding that it was there that two small clots were detected. “During my first ascent of an eight-thousand-meter peak, I made many mistakes, which forced me to endure significant strain,” commented Lina Quesada. As a result of this extreme effort, she developed a hemorrhoidal crisis that caused a clot. “When I used to go to the mountains, I didn’t really know what to put in my medical kit, and thanks to this book, I’ve learned a lot about thrombosis,” added Núria Balagué.

Thrombosis and High Mountains

The link between thrombosis and extreme mountaineering is stronger than it appears. At high altitudes, oxygen pressure decreases, forcing the body to adapt. This process, while necessary for survival, can increase blood viscosity and promote clot formation.

This mirrors the situation faced by thrombosis patients, where factors like immobility or pre-existing conditions generate similar risks. Moreover, the personal and physical struggle of climbing a mountain becomes a powerful metaphor for the fight that patients and researchers face to overcome a disease like thrombosis.

Just as mountaineers need training, preparation, and proper equipment to reach the summit, doctors and researchers rely on innovative tools and resources to advance the understanding and treatment of this disease. “Each ascent is a test of physical and mental endurance. That same strength is what we need to overcome such a complex condition as thrombosis,” said Dr. Soria during the presentation.

What Is Thrombosis, and Why Is It Important to Discuss?

Venous Thromboembolic Disease (VTE), commonly known as thrombosis, occurs when a blood clot fully or partially blocks a blood vessel, hindering normal blood flow. This disease is one of the leading causes of serious events such as pulmonary embolisms, heart attacks, and strokes. Additionally, it is the primary cause of death in cancer patients.

Risk factors for thrombosis include family history, prolonged immobilization, recent surgeries, certain chronic illnesses, and sedentary lifestyles. However, this condition can often be prevented with proper knowledge and action. “The lack of information about thrombosis means that many people are unaware of their risk until it’s too late. This project aims to change that by raising awareness beyond medical circles and reaching society at large,” Dr. Soria emphasized.

The Charity Project Behind the Book

Life Flows Through Your Veins is not just a book; it is a call to action. Its goal is to raise funds for thrombosis research at IR Sant Pau, a leading institution in scientific innovation. Each copy sold will directly contribute to financing projects aimed at developing new diagnostic and treatment tools.

The book is available for purchase here.

The Sant Pau Research Institute (IR Sant Pau) has been honored with two awards for its research at the recent National Congress of the Spanish Society of Hematology and Hemotherapy (SEHH), held in Palma, reaffirming its leadership in innovative research to improve hematology treatments.

The presentation titled “Phase I/II clinical trial with academic CAR-T30 (HSP-CAR30) for the treatment of Hodgkin lymphoma or CD30+ T-cell non-Hodgkin lymphoma in relapsed or refractory cases: efficacy and safety results”, presented by Dr. Ana Caballero, a researcher from the Cellular Immunotherapy and Gene Therapy Group, was awarded as the Best oral communication in chronic lymphoproliferative syndromes. This academic study on HSP-CAR30, the only anti-CD30 CAR-T product in Europe, demonstrates high antitumor efficacy in patients with relapsed or refractory Hodgkin lymphoma and CD30+ T-cell non-Hodgkin lymphoma. The data show it is possible to achieve durable complete responses in patients with multi-refractory disease, with an adequate safety profile.

The other award went to the presentation titled “Efficacy and safety of reduced-dose cyclophosphamide post-transplantation outside the setting of haploidentical hematopoietic progenitor cell transplantation”, by Drs. Irene García Cadenas and Sara Redondo from the Hematologic Oncology and Transplantation Research Group. This work was recognized as the Best work in the Hematopoietic Progenitor Transplantation section. The study, which initially presented preliminary data from 31 patients, updated its results during the congress to include more than 50 patients who received this therapeutic platform. The research proposes reducing the dose of cyclophosphamide to decrease the drug’s associated toxicity in the context of bone marrow transplantation while maintaining its effectiveness in preventing graft-versus-host disease, one of the most severe complications of the procedure. The results have been so positive that this strategy is now routinely used for most transplanted patients at Sant Pau Hospital, paving the way to improve outcomes, not only in terms of efficacy but also in quality of life.

In addition, researchers from IR Sant Pau presented another study as an oral communication titled “Towards dose individualization of ruxolitinib in patients with corticosteroid-refractory graft-versus-host disease: development and validation of tandem mass spectrometry liquid chromatography”, which stood out for its innovative proposal to personalize treatment in patients with graft-versus-host disease unresponsive to conventional treatments. This multidisciplinary work, in collaboration with the Pharmacy and Biochemistry Departments at Sant Pau Hospital, introduces a new system to measure ruxolitinib levels, the current second-line treatment, and adjust the dose for each patient to minimize risks and improve therapeutic responses. Given the remarkable results of the pilot study, the research will continue with the launch of a multicenter study within the Spanish Group for Transplantation and Cellular Therapy (GETH-TC) in early 2025, led by the Hematologic Oncology and Transplantation Research Group at IR Sant Pau.

The Memory Unit of the Neurology Service at Hospital Sant Pau expresses great satisfaction with the European Medicines Agency’s (EMA) Committee for Medicinal Products for Human Use (CHMP) recommendation of lecanemab for treating early-stage Alzheimer’s. This decision follows the reconsideration of the initial evaluation during the appeals process.

Hospital Sant Pau, together with other Spanish centers, participated in the Phase 3 study of lecanemab, a pivotal investigation that enabled this recommendation. Following the model established in the United Kingdom, the drug’s use is limited to a subgroup of patients based on safety and efficacy data. Patients on anticoagulants and those carrying two copies of the APOE4 allele are excluded from treatment.

Despite these restrictions, this recommendation represents a historic milestone in the fight against Alzheimer’s, as lecanemab is the first drug capable of slowing the disease’s progression. Furthermore, its introduction into clinical practice marks a new paradigm in treating this fatal condition, which has until now been diagnosed in its early stages only in certain specialized centers. This approval will not only facilitate access to new diagnostic techniques but also drive the development of treatments for Alzheimer’s and other neurodegenerative diseases, as seen with fibrinolysis and the creation of stroke units or advancements in managing multiple sclerosis.

“The EMA’s recommendation marks the beginning of a new care model for people with Alzheimer’s,” highlights Juan Fortea, head of the Neurobiology of Dementias research group at the Sant Pau Research Institute (IR Sant Pau) and director of the Memory Unit at Hospital Sant Pau. “This new phase will require the implementation of biomarkers, training for specialized professionals, and increased resource allocation to ensure comprehensive and innovative care that can, for the first time, change the clinical course of the disease.”

The EMA’s decision also corrects an initial stance that left Europe at risk of lagging in global Alzheimer’s research. With this resolution, the European Commission will need to determine marketing authorization for the entire European Union. Once approved, each member state must define the treatment’s pricing and implementation based on their healthcare system’s characteristics, a process that may take 1 to 2 years.

While this approval is not the end goal, it represents a crucial first step toward improving the quality of life and future of individuals affected by this disease.

According to a new study conducted on participants in the El Bus de la Salut (ILERVAS) project cohort, adherence to the Mediterranean diet could play a key role in preventing subclinical atherosclerotic disease, a condition that develops silently before leading to serious cardiovascular diseases. The research, led by investigators from CERCA centers, the Sant Pau Research Institute, and the Biomedical Research Institute of Lleida (IRBLleida), has been published in the journal *Nutrients*.

The study, which included 3,097 participants, demonstrated that a healthy Mediterranean diet, rich in nuts, vegetables, fish, and olive oil, was associated with a significant reduction in atherosclerotic plaques in the arteries. Specifically, researchers observed a 3% decrease in the number of territories affected by plaques in participants with higher adherence to the Mediterranean dietary pattern, as assessed by the MEDAS (Mediterranean Diet Adherence Screener) scale.

“We designed a healthy lifestyle index based on the Mediterranean diet and physical exercise to evaluate its relationship with the progression of atherosclerotic plaques. Although the overall score did not show an association with progression, when analyzing the components separately, we found that exercise did not offer significant protection, while adherence to the Mediterranean diet was indeed associated with less progression of atherosclerotic plaques,” explained Marina Rojo, a researcher in the Endocrinology, Diabetes, and Nutrition group at IR-Sant Pau.

“This research highlights the cardiovascular benefits of the Mediterranean diet, demonstrating that it not only helps prevent disease but also reduces the progression of atherosclerosis, one of the main risk factors for heart disease,” commented Marcelino Bermúdez, professor at the University of Lleida and researcher in the vascular and renal translational research group at IRBLleida. “These findings underscore that promoting adherence to the Mediterranean diet, along with managing traditional risk factors such as hypertension and smoking, could be an effective public health intervention to prevent atherosclerosis and reduce the burden of cardiovascular diseases on society,” added the researcher.

Although physical activity did not show a significant association with the progression of atherosclerotic disease in this study, the results suggest that the Mediterranean diet might play a more prominent role in protecting against atherosclerosis. This finding reinforces the importance of healthy eating as a fundamental part of an integrated cardiovascular prevention strategy.

The study also identified other risk factors for the future development of fatty plaques in the arteries, such as advanced age, hypertension, smoking, and dyslipidemia. Additionally, the researchers found that being female might have a protective effect against the progression of the disease.

This research was funded by the CIBER-Consortium for Research in Biomedicine in Network-(CB15/00071) of the Carlos III Health Institute, the Ministry of Science, Innovation and Universities, the Strategic Health Research and Innovation Plan (PERIS) 2021–2024 of the Generalitat of Catalonia, the State Research Agency, the European Union “NextGeneration EU,” the Agency for the Management of University and Research Grants, the Lleida Provincial Council, the European Regional Development Fund “A Way to Make Europe,” the Biomedical Research Networking Center in the area of Biomedical Engineering, Biomaterials and Nanomedicine (CIBER-BBN), and the CERCA Program/Generalitat of Catalonia.

Reference Article:
Rojo-López MI, Bermúdez-López M, Castro E, Farràs C, Torres G, Pamplona R, Lecube A, Valdivieso JM, Fernández E, Julve J, et al. *Mediterranean Diet Is a Predictor of Progression of Subclinical Atherosclerosis in a Mediterranean Population: The ILERVAS Prospective Cohort Study.* Nutrients. 2024; 16(21):3607. [https://doi.org/10.3390/nu16213607](https://doi.org/10.3390/nu16213607)

The Aut-CARE project (Autism Cognitive-Afective REmediation for adults), created by the Sant Pau Research Institute (IR Sant Pau) and the Friends Foundation, has been selected by Fundación “la Caixa” in its Connecta Call: from Research to Social Practice. The goal of this initiative is to improve the cognitive and emotional functioning of young adults on the autism spectrum and to support their social and workplace integration.

Autism is a lifelong neurodevelopmental condition. Diagnosis and interventions generally focus on childhood and adolescence, which makes it challenging—or even impossible—for individuals to meet environmental demands, such as employment and social integration, often leading to additional mental health issues in autistic adults.

According to data from Autism Europe, between 76% and 90% of adults with autism spectrum disorder (ASD) are unemployed, making them the disability group with the highest unemployment rate. Although the Autism Spain Confederation and other associations prioritize the inclusion of people with ASD in the workforce, significant employment barriers remain. There is a lack of evidence-based interventions tailored to meet the specific needs of individuals with autism, and existing programs tend to be generalist and do not fully address the cognitive and emotional characteristics of autism.

The goal of Aut-CARE is to co-design an intervention to address the inherent challenges of autism, providing strategies for accessing the job market that, in turn, will help improve participants’ emotional well-being and overall psychosocial adaptation. Led by Dr. Maria J. Portella, head of the Mental Health Research Group at IR Sant Pau, and Susanna Díaz, director of the Friends Foundation, this project aligns with the Connecta Call’s goals, conceptualizing and co-designing Aut-CARE to complement the efforts and interventions currently underway in the nonprofit sector to increase the social inclusion of these young adults and support their mental health.

The Connecta Call by Fundación “la Caixa” aims to support research projects focused on emotional well-being and mental health in Spain, carried out collaboratively between research entities and organizations within the social sector. The evaluation process of the proposals was conducted by academic and social sector experts, resulting in the selection of 12 projects from a total of 106 submissions.

Turning an innovative idea into a concrete solution is not always easy; in fact, the real challenge lies in transforming these ideas into tangible realities. For this reason, the Sant Pau Research Institute (IR Sant Pau) has been promoting the INNOPAU initiative – Sant Pau Ideas Incubator – for the past two years. Its goal is to capture innovative ideas in their early stages and define a roadmap that enables their transfer to the market and clinical practice, thereby benefiting society.

This Friday, November 8th, the second edition of INNOPAU kicked off with an event where the seven projects participating this year were presented. During the event, the program and its first work module were explained, providing an opportunity for the teams to meet each other.

The seven projects participating in this edition are:

• MARPRESSING: a medical device designed to prevent endoscope loops that form during colonoscopies, thereby reducing clinician injuries by lowering the continuous pressure needed to avoid loop formation. The team includes Jessica Marin, Ana Marin, and Oliva Ros from Hospital Sant Pau.
• CUMADE: a methodology that uses medical imaging and 3D reconstructions to reduce leaks in current cardiac prostheses, enabling the creation of customized devices for each patient. This project is led by Dabit Arzamendi and Abdel Hakim from Hospital Sant Pau, together with Oscar Camara from Pompeu Fabra University (UPF).
• AQUAFLOW: an innovative swimsuit for patients undergoing peritoneal dialysis that prevents infections at the catheter exit site and allows them to enjoy the benefits of water safely. Sandra Peña, Mireia Plans, Piedad Arias, and Esther Franquet from the Puigvert Foundation are responsible for this proposal.
• RADAR: a digital tool that enables the automatic recognition of adverse drug reactions in real-time, aimed at primary care. The team comprises Carlen Reyes, Helena Serrano, Ana Isabel Posa, Elisabet Rayó, and Jara González from EAP Sardenya.
• DAMMPIS: multimodal detection devices for abnormal movements and removal of medical equipment for ICU patients, aimed at improving patient safety and reducing potential complications. This project is led by Jaume Baldira, Ariadna Bellès, Matias Flores, Rosa Maria Oms, and Carles Subirà from Hospital Sant Pau.
• CHYMERA: a digital solution that uses Machine Learning and Deep Learning to quickly and automatically assess the quality of X-rays, aligned with European and American criteria and standards. This team consists of Josep Munuera, Lucia Borrego, Daniel Caballero, and Lydia Canales from Hospital Sant Pau.
• PADAC: a hybrid model that combines in-person and home care to reduce the number of hospital visits for patients in oncology clinical trials. Romina Ribas, Mireia Llobet, Diana Castells, Laia Lavernia, Silvia Molina, Laia Ribas, and Judith Reyes from Hospital Sant Pau lead this proposal.

Throughout the program, teams will go through various training modules where they will receive advice in key areas such as intellectual property management, funding search, applicable regulations, business model development, and project structuring.

The edition will culminate with INNOVATION DAY, an event to be held on June 17, 2025, where the teams will present their progress before the innovation ecosystem of Barcelona and Spain, connecting with strategic actors such as pharmaceutical leaders, investment funds, and other key professionals. Moreover, on that day, several financial grants will be awarded, thanks to the contribution from the Private Foundation Hospital de la Santa Creu i Sant Pau. One for the winning project of 50,000 euros and another for the second project of 15,000.

With this new edition, IR Sant Pau reaffirms its commitment to innovation, supporting professionals in the development of projects that can positively impact society.

Stay tuned for INNOPAU’s progress!