Professor Lina Badimon, Director of the Research Area of Cardiovascular Diseases and the Molecular Pathology and Therapeutics of Atherothrombotic and Ischemic Diseases research group at the Research Institute of Hospital Santa Creu i Sant Pau – IIB Sant Pau, has been invited to deliver the “ESC William Harvey Lecture on Basic Science,” one of the most prominent and prestigious talks at the European Society of Cardiology (ESC) Congress 2023 to be held in Amsterdam, Netherlands, from August 25 to 28.

The lecture, which will also result in the publication of an article in the ESC-News journal from the Congress, is titled “Tissue Factor in the Continuum of Cardiovascular Disease Progression: Effects Beyond Thrombosis.”

Throughout her distinguished professional career, Professor Badimon has made significant advancements in understanding the complexity of atherosclerosis and identifying innovative and groundbreaking strategies.

Her research in cardiovascular investigation has focused on the critical role that atherosclerosis plays in most cardiovascular diseases, which constitute the leading cause of death worldwide.

After completing postgraduate studies in Spain, Professor Badimon spent 15 years in the United States conducting various studies on atherosclerosis and myocardial lesions resulting from ischemic episodes at prestigious institutions such as the Mayo Clinic, Mount Sinai Medical Center, and Harvard Medical School. Upon returning to Spain in the mid-1990s, she continued exploring cardioprotection processes in the context of myocardial infarction.

In her lecture, Professor Badimon will discuss a project she began developing in the United States: the role of tissue factor in the progression of cardiovascular diseases. This research serves as a clear example of how basic science can be instrumental in understanding a clinical problem and finding solutions that translate into improved prognosis and quality of life for patients.

Tissue factor is a key component of thrombotic events that, along with advanced atherosclerosis, are factors leading to myocardial infarction. Thanks to the use of advanced molecular technologies and funding from the Spanish Ministry of Health, Professor Badimon’s team at IIB Sant Pau has successfully produced a triple mutant model of tissue factor that lacks thrombotic activity but retains its angiogenic capacity. This modified protein is being used to better understand the effects of myocardial infarction and explore its therapeutic potential in microvascular regeneration, tissue reperfusion promotion, and damage prevention.

Future Outlook

Professor Badimon will discuss the importance of innovation in the development of new drugs for the prevention and treatment of cardiovascular diseases. In a field where cardioprotection is a fundamental unmet medical need, her research promises significant advancements. Following several successful studies in cell cultures and small animal models, among her upcoming goals is to demonstrate preclinical efficacy in a porcine model. “Being realistic about patent timelines and funding, we expect that the research findings will translate into clinical trials in the coming years,” comments Professor Badimon.

Regarding the future of research in the cardiovascular field, Professor Badimon highlights the importance of repurposing existing drugs and the use of new technologies in molecular and imaging fields to advance the understanding of heart diseases, identify patients requiring early intervention, and develop effective preventive strategies. Research into cardiogenic shock biomarkers and the pathophysiology and biomarkers of familial hypercholesterolemia are also topics of interest for Professor Badimon’s team at IIB Sant Pau.

Un nou estudi realitzat en persones amb diabetis tipus 2 ha revelat resultats interessants sobre el tractament de la hiperglucèmia i la seva relació amb la retinopatia diabètica, una complicació ocular que sovint afecta les persones amb diabetis. La investigació “Rapid Reduction of HbA1c and Early Worsening of Diabetic Retinopathy: A Real-World Population-Based Study in Subjects With Type 2 Diabetes”, publicada a la prestigiosa revista diabetològica Diabetes Care, suggereix que una reducció ràpida de l’HbA1c, una mesura clau en el control glucèmic de la diabetis, no empitjora la retinopatia en les persones que ja tenien una forma lleu o moderada d’aquesta complicació”. Això és una bona notícia per a les persones amb retinopatia i els professionals de la salut, ja que implica que la millora del control de la glucosa en sang no necessita ser retardada per por de l’empitjorament de la retinopatia diabètica en aquests casos. Aquesta troballa pot contribuir a millorar el control de la diabetis i  es seves complicacions .

En l’estudi hi han participat diferents grups de recerca, i ha estat liderat per Josep Franch Nadal, del Grup de Diabetis d’Atenció Primària (DAP_Cat) de l’Institut d’investigació en Atenció Primària Jordi Gol (IDIAPJGol), Dídac Mauricio, de l’Institut de Recerca de l’Hospital de la Santa Creu i Sant Pau (IIB Sant Pau), i Rafael Simó del Vall d’Hebron Institut de Recerca (VHIR). Tots ells, també pertanyen al Centro de Investigación Biomédica en Red de Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM).

Saber si un descens ràpid dels nivells de glucosa en sang estava relacionat amb l’empitjorament precoç de la retinopatia diabètica és un tema que preocupa als professionals sanitaris, ja que la retinopatia diabètica és una de les complicacions més comunes de la diabetis i la primera causa de ceguesa evitable en la població adulta. La prevalença d’aquesta complicació és alta i afecta almenys a 2 de cada 10 persones amb diabetis i es preveu que aquesta xifra incrementi. En l’estudi es van analitzar les dades de més de 1.000 persones amb diabetis tipus 2 i retinopatia diabètica lleu o moderada. Els investigadors van estudiar la relació entre la reducció dels nivells de glucosa en sang (l’HbA1c) de més d’un 1.5% en menys de 12 mesos o més del 2% en menys de 6 mesos i l’empitjorament de la retinopatia diabètica.

Segons Josep Franch, coordinador del DAP_Cat, “molts facultatius tenien por de ser agressius a l’hora de fer baixar el sucre i podien pensar que era millor fer-ho a poc a poc, encara que això augmentés el risc de patir d’altres complicacions no retinopàtiques, però amb aquest estudi, que és el primer que es fa en condicions de pràctica clínica habitual, hem vist que no hi ha arguments per retardar el control de la glucèmia fins els objectius que desitgem per a cada pacient“.

L’HbA1c (hemoglobina glicosilada) és una prova clínica utilitzada per mesurar el control de la glucosa en sang al llarg del temps. És una fracció de l’hemoglobina (una proteïna que es troba a les cèl·lules vermelles de la sang i que transporta l’oxigen als teixits del cos) que s’uneix a la glucosa. Per a les persones amb diabetis, l’HbA1c és una mesura clau per avaluar el control de la glucosa en sang i la gestió de la malaltia. Un nivell d’HbA1c elevat indica un control deficient de la diabetis i un risc més alt de complicacions associades, com ara la retinopatia diabètica, que afecta els ulls.

Cal tenir en compte que aquest estudi es va centrar en persones amb retinopatia diabètica lleu o moderada, i no en persones en fases més avançades de retinopatia. En la situació menys freqüent d’una retinopatia diabètica greu, i davant la falta d’evidències en condicions habituals de pràctica clínica, no es pot establir la seguretat o el perill de la baixada ràpida de la glucèmia.

Un estudi liderat pel Dr. Jaume Baldirà, investigador del Grup de Recerca en Medicina Intensiva de l’Institut de Recerca de l’Hospital de la Santa Creu i Sant Pau – IIB Sant Pau i metge adjunt del mateix hospital, ha identificat un nou biomarcador que podria ajudar a distingir un subgrup de pacients amb sèpsia i millorar-ne així les estratègies de diagnòstic i tractament.

La sèpsia, també coneguda com a septicèmia, és una resposta inflamatòria generalitzada de l’organisme davant d’una infecció bacteriana, vírica o fúngica que pot danyar els òrgans, fer que deixin de funcionar i, fins i tot, arribar a produir la mort. És considerada un problema de salut pública molt greu i és àmpliament reconeguda com una de les causes principals de mortalitat global. Per això, la detecció precoç i l’inici immediat del tractament adequat són fonamentals per reduir la mortalitat entre els pacients.

“Actualment, per saber l’estat de gravetat del pacient amb sèpsia, utilitzem el sistema de puntuació SOFA (per les seves sigles en anglès, Sequential Organ Failure Assessment)” ens explica el Dr. Baldirà. Es tracta d’una eina que avalua la gravetat de la disfunció orgànica en pacients crítics tenint en compte variables de sis sistemes d’òrgans com, per exemple, la pressió arterial, l’estat fetge, el ronyó, etc. Per tant, com més baixa sigui la puntuació SOFA (inferior o igual a 6), menor risc de mortalitat.

No obstant, la puntuació SOFA no és infal·lible. En algunes ocasions, no té la sensibilitat necessària ja que s’ha vist que hi ha un subgrup de pacients amb sèpsia que, tot i tenir una puntuació SOFA baixa, experimenten taxes de mortalitat elevades per insuficiència orgànica. Per identificar aquest subgrup específic, s’estan començant a utilitzar biomarcadors de sang com a eina de cribratge complementària.

Aquest estudi, que publica la revista Biomedicines, avalua l’habilitat predictiva de quatre biomarcadors, la proadrenomedullina de la regió mitjana (MR-proADM), la procalcitonina (PCT), la proteïna C reactiva (CRP) i el lactat, que podrien ajudar a estratificar el risc de mortalitat en pacients amb sèpsia i una puntuació SOFA menor o igual a 6, un subgrup molt específic.

Per fer-ho, es va realitzar un anàlisi observacional prospectiu que va incloure 284 pacients que reunien els criteris per l’activació del codi sèpsia de l’Hospital Universitari Vall d’Hebrón i es van determinar els biomarcadors i altres paràmetres necessaris de les mostres de sang extretes del Banc de Sèpsia del mateix hospital.

Els resultats de l’estudi suggereixen que el biomarcador MR-proADM podria ajudar a identificar el risc de mortalitat als 28 dies en pacients amb sèpsia adquirida a la comunitat (fora d’hospital) i puntuació SOFA menor o igual a 6, mentre que el biomarcador lactat (lactacidèmia) seria més eficaç per predir la mortalitat als 28 dies en pacients amb infecció adquirida a l’hospital.

Així doncs, “la mesura inicial d’aquests biomarcadors podria facilitar estratègies de tractament precoç basades en la seva activació en pacients amb sèpsia o xoc sèptic i una puntuació SOFA baixa” afirma el Dr. Baldirà.

Tot i que l’estudi compta amb algunes limitacions com per exemple, una mostra de pacients petita i que el criteri d’activació del codi sèpsia pot variar segons l’hospital, “els resultats són consistents amb la literatura existent i aporten dades de suport addicionals per a aquests biomarcadors i el seu ús en diferents entorns hospitalaris i diferents nivells de malaltia” assenyala.

“Aquesta troballa és molt important perquè, en un futur, el biomarcador MR-proADM podria utilitzar-se en la pràctica estàndard per ajudar-nos a detectar subgrups de pacients amb sèpsia i tractar-los millor i més ràpid” conclou el doctor.

Aquest estudi ha estat realitzat en col·laboració amb el Servei de Medicina Intensiva, el Grup de Recerca de Xoc, Disfunció Orgànica i Ressuscitació de la Vall d’Hebrón Institut de Recerca, el Servei d’Anàlisis Clíniques i el Servei de Microbiologia de l’Hospital Vall d’Hebron  i ha estat finançat per una subvenció restringida de Thermo Fisher (Hennigsdorf, Alemanya).

Article de referència

Baldirà, J.; Ruiz-Rodríguez, J.C.; Ruiz-Sanmartin, A.; Chiscano, L.; Cortes, A.; Sistac, D.Á.; Ferrer-Costa, R.; Comas, I.; Villena, Y.; Larrosa, M.N.; et al. Use of Biomarkers to Improve 28-Day Mortality Stratification in Patients with Sepsis and SOFA ≤ 6. Biomedicines 2023, 11, 2149. https://doi.org/10.3390/ biomedicines11082149

Dr. Alba Tristán Noguero, postdoctoral researcher of the ‘Margarita Salas’ Program at the Department of Genetics, Microbiology, and Statistics of the Faculty of Biology at the University of Barcelona (UB), and a member of the Molecular Physiology of Synapses research group at the Sant Pau Research Institute – IIB Sant Pau, has been awarded the prestigious “EMBO Scientific Exchange Grant”.

This scholarship will enable her to undertake a stay at the University of Edinburgh, in the laboratory of Professor Peter C. Kind, to work on the project entitled “Calcium dynamics at the level of dendritic spines in an animal model of Syngap1 deficiency.” This project is part of the studies conducted by the IIB Sant Pau group on the neurodevelopmental disorder caused by the deficiency of the SYNGAP1 gene, an epileptic encephalopathy with an estimated prevalence of 1 case per 16,000 births.

The hypothesis of the research team led by Dr. Àlex Bayés is based on the premise that calcium dynamics at the level of synapses in the central nervous system would be altered. Excess calcium could be at the root of the synaptic dysfunction characteristic of SYNGAP1 deficiency, which in turn plays a central role in two of the main symptoms, epilepsy, and intellectual disability. If the hypothesis is confirmed, this stay will not only serve to deepen and establish new international research collaborations but also to investigate new therapies for SYNGAP1 patients focused on normalizing synaptic-scale calcium dynamics.

Double immunofluorescence with CD206 and CD68. The immunostaining shows CD206+ macrophages (green), CD68+ macrophages (red), and colocalization of CD206+ and CD68+ macrophages (yellow). Representative image of a localized infiltrate where most of CD68+ do not colocalize with CD206+ macrophages, showing an M1 predominance. Author: Andrea Bravo

Idiopathic inflammatory myopathies (IIM) are immune-mediated diseases characterized by muscle weakness and inflammatory infiltrates in muscle biopsies. Macrophages play a crucial role in skeletal muscle’s inflammatory response and tissue repair processes.

In a study performed by researcher Andrea Bravo Gómez and led by Anais Mariscal Rodríguez at the Inflammatory Diseases group, and Eduard Gallardo Vigo at the Neuromuscular Diseases group, researchers used a double immunofluorescence staining method to differentiate between pro-inflammatory (M1) and anti-inflammatory/repair (M2) macrophages.

Notably, idiopatic inflammatory myopathies biopsies had the lowest proportion of M2 macrophages, suggesting a prevailing pro-inflammatory environment in affected muscles.

This study enhances our understanding of macrophage involvement in muscle pathologies and highlights the potential of macrophage analysis for clinical applications. Larger cohort studies are needed to validate these findings and explore macrophage subtypes in specific muscle pathology subgroups.

Patients with locally advanced or metastatic urothelial cancer who are unable to receive cisplatin chemotherapy, which is the conventional first-line treatment for this disease, face very limited options to combat their condition. Unfortunately, this is not an exceptional situation, as renal insufficiency, for example, is among the factors that contraindicate this therapeutic alternative when dealing with a tumor that affects the urinary system.

Now, a study in which Dr. José Pablo Maroto, a researcher from the Clinical Oncology Group at the Research Institute of the Hospital de la Santa Creu i Sant Pau – IIB Sant Pau and an oncologist at the same hospital, has participated, has been able to verify that the combination of two drugs, enfortumab vedotin and pembrolizumab, which had previously shown benefits in survival in second-line treatment and in cases of advanced urothelial cancer, offers results comparable to cisplatin chemotherapy.

It is a Phase II study, called EV-103, which analyzes data from a specific cohort of patients with locally advanced or metastatic urothelial cancer who were not suitable to receive cisplatin. The results are published in the Journal of Clinical Oncology, with Dr. Maroto as the sole Spanish author.

The main conclusion of the study is that patients who received this new therapeutic combination – enfortumab vedotin and pembrolizumab – showed a high response rate, and the effects were long-lasting, which positions it as a good option for first-line treatment. These results represent a significant advancement in the treatment of advanced urothelial cancer and offer new hope for patients facing this disease who cannot undergo cisplatin chemotherapy.

Until now, patients with advanced or metastatic urothelial cancer who could not receive cisplatin chemotherapy, either due to renal insufficiency, peripheral neuropathy, hearing problems, cardiac issues, or poor overall condition, were given a carboplatin-derived drug that offered much inferior results. “Cisplatin is a drug that is eliminated through the renal route and therefore requires patients to be well-hydrated. In the case of frail patients or those with renal problems, we cannot prescribe it, and thus, we cannot offer the optimal treatment,” comments Dr. Maroto.

Currently, the confirmatory Phase III clinical trial is underway. If its results are positive as expected, they would lay the groundwork for the approval of this therapeutic combination in Spain, which is currently under investigation.

Reference article

O’Donnell PH, Milowsky MI, Petrylak DP, Hoimes CJ, Flaig TW, Mar N, Moon HH, Friedlander TW, McKay RR, Bilen MA, Srinivas S, Burgess EF, Ramamurthy C, George S, Geynisman DM, Bracarda S, Borchiellini D, Geoffrois L, Maroto Rey JP, Ferrario C, Carret AS, Yu Y, Guseva M, Homet Moreno B, Rosenberg JE. Enfortumab Vedotin With or Without Pembrolizumab in Cisplatin-Ineligible Patients With Previously Untreated Locally Advanced or Metastatic Urothelial Cancer. J Clin Oncol. 2023 Jun 27:JCO2202887. doi: 1200/JCO.22.02887. Epub ahead of print. PMID: 37369081.

Un estudi multicèntric en què han participat, investigadors del Grup de Cirurgia General i Digestiva de l’Institut de Recerca de l’Hospital de la Santa Creu i Sant Pau – IIB Sant Pau, que dirigeix el Dr. Antonio Moral, han guanyat el XXIV Premi Dr. Lino Torre en investigació quirúrgica.

A l’estudi han participat el Dr. Eduardo Mª Targarona, que és també director de la Unitat de Cirurgia Hematològica i Gastrointestinal del mateix hospital; el Dr. Jesús Manuel Bollo Rodríguez; la Dra. Maria Pilar Hernández Casanovas; la Dra. María Del Carmen Martínez Sánchez, i la Dra. Anna Sánchez López.

Aquest premi reconeix la tasca dels cirurgians que hagin publicat un treball de recerca a la literatura mèdica durant l’any natural precedent al de l’atorgament del premi. El treball premiat, en què van participar diversos hospitals d’Espanya, es titula “Resultats a curt termini de la quimiorradioteràpia i l’escissió local davant de l’escissió total del mesorrecte al càncer de recte T2-T3ab,N0,M0: un assaig multicèntric , aleatoritzat, controlat, de fase III”.

L’estudi, conegut com a TAU-TEM, buscava demostrar la no inferioritat de la recurrència local i la millora en la morbiditat assolida amb la combinació de quimiorradioteràpia preoperatòria i microcirurgia endoscòpica transanal en comparació de l’excisió total del mesorrecte.

El càncer rectal és una malaltia que ha presentat altes taxes de recurrència local, fet que ha portat a l’aplicació estàndard de la microcirurgia endoscòpica transanal. Tot i això, informes inicials sobre la combinació amb quimioteràpia han suggerit una reducció en la recurrència local. Amb l’objectiu de validar aquestes troballes i comparar-les amb el tractament convencional, els investigadors van fer aquest assaig clínic aleatoritzat i controlat.

El tractament combinat va demostrar taxes elevades de resposta patològica completa –gairebé un 45%– i una alta taxa de compliment amb la quimiorradioteràpia (98,8%) en pacients amb càncer rectal. A més, es van observar taxes significativament més baixes de complicacions postoperatòries i hospitalització en comparació del grup que només va rebre la cirurgia.

Aquestes troballes són encoratjadores, ja que suggereixen que la combinació de les dues tècniques podria representar una estratègia de tractament efectiva i menys invasiva per als pacients amb càncer rectal en etapes primerenques. Tanmateix, cal fer un seguiment a llarg termini per avaluar l’eficàcia i la seguretat a llarg termini d’aquest enfocament.

A study coordinated by Dr. Vicenta Llorente-Cortés, a researcher at CIBERCV in the Research Institute of the Hospital de la Santa Creu i Sant Pau – IIB Sant Pau and the Biomedical Research Institute of Barcelona (IIBB-CSIC), reveals that LRP1-based immunotherapy reduces cardiac extracellular matrix (ECM) remodeling induced by intracellular accumulation of esterified cholesterol in cardiomyocytes. The research, which involved collaboration from CIBERDEM, UB, the CIRIMAT Institute in Toulouse (France), and the University of Córdoba (Argentina), has been published in the Journal of Medicinal Chemistry.

The study analyzed the effect of anti-P3 antibodies on the biological alterations of cardiac ECM induced by a cholesterol-enriched diet. The study demonstrates that immunizing rabbits with the P3 sequence of the LRP1 receptor produces specific anti-P3 antibodies in the blood that selectively and specifically block the entry of esterified cholesterol transported by lipoproteins into cardiomyocytes.

The results show that a cholesterol-rich diet increases intracellular levels of esterified cholesterol and triglycerides in cardiomyocytes, the extracellular level of collagen, the degree of fibrosis, water retention, and plasticization of the ECM in the heart. It is noteworthy that in immunized animals, anti-P3 antibodies specifically reduce intracellular accumulation of esterified cholesterol within cardiomyocytes, and this effect is sufficient to reduce collagen accumulation, water retention in the ECM, and cardiac fibrosis.

These findings demonstrate that anti-P3 antibodies improve cardiac extracellular matrix remodeling by reducing the accumulation of intracellular esterified cholesterol in cardiomyocytes.

This study, along with others published by the same group on this LRP1-based immunotherapy model (Actis-Dato V et al. Biomed Pharmacother. 2022), provides a solid foundation for the development of immune-based therapies focused on reducing esterified cholesterol accumulation in the heart as a potentially useful therapeutic strategy in the management of heart failure.

Reference article

Samouillan V, Garcia E, Benitez-Amaro A, La Chica Lhoëst MT, Dandurand J, Actis Dato V, Guerra JM, Escolà-Gil JC, Chiabrando G, Enrich C, Llorente-Cortes V. Inhibitory Effects of LRP1-Based Immunotherapy on Cardiac Extracellular Matrix Biophysical Alterations Induced by Hypercholesterolemia. J Med Chem. 2023 May 11;66(9):6251-6262. doi: 10.1021/acs.jmedchem.2c02103. Epub 2023 Apr 28. PMID: 37116069; PMCID: PMC10184115.

Dr. Raquel Sánchez, a researcher at the Neurosurgery Group of the Research Institute of the Hospital de la Santa Creu i Sant Pau – IIB Sant Pau, and a neurosurgeon at the same hospital, has received the Guillermo Dierssen award for her communication titled “Deep Brain Stimulation in Pharmacoresistant Cluster Headache: Connectivity Analysis and Predictors of Neuromodulation Response.”

The study concludes that deep brain stimulation targeted at the lateral mesencephalic pre-ruptic region can be effective in treating cluster headache, also known as cluster headache, that does not respond to conventional pharmacological treatments. Cluster headache is an extremely debilitating and rare form of headache.

The researchers studied the relationship between brain connectomics, which is the mapping of neural connections in the brain, and clinical improvement in patients with pharmacoresistant cluster headache. To do this, demographic and clinical data were collected from 14 patients, including the number of weekly attacks, pain intensity, and attack duration.

The results showed a significant reduction in the weekly headache burden in patients undergoing deep brain stimulation. The headache burden is calculated by multiplying the number of attacks by their duration and intensity. On average, a 40% reduction was observed at 3 months after surgery, a 53% reduction at 6 months, and a 61% reduction at 12 months.

The analysis of the data allowed for the identification of the lateral mesencephalic pre-ruptic region as responsible for the clinical improvement observed in patients. Additionally, a positive correlation was found between mesocorticolimbic projection fibers and rubral projection fibers, which are involved in reward/motivation circuits and pain processing, respectively.

These findings suggest that modulation of the brain circuits associated with reward, motivation, and pain processing may be crucial in the treatment of cluster headache. The lateral mesencephalic pre-ruptic region is identified as a potentially effective therapeutic target for this condition.

Dr. Berta Freixer, a researcher and neurosurgeon at the IIB Sant Pau, has been awarded the Neuroscience grant from the Spanish Society of Neurosurgery (SENEC) to carry out the project “Intraoperative Neurophysiological Biomarkers in Patients with Parkinson’s Disease and Dystonia: Advancing Adaptive Deep Brain Stimulation”.

This grant is primarily aimed at young associates and residents specializing in neurosurgery, in an effort to promote innovation and advancement in this medical specialty.

Hospital Sant Pau, recognized as a leading institution in functional neurosurgery pathology, has positioned itself as one of the pioneers in this field. Its main focus is on deep brain stimulation in patients with advanced Parkinson’s disease, especially those who do not respond adequately to pharmacological treatments or who experience undesirable side effects.

This research project aims to use the detection of brain electrical waves (local field potentials) and analyze their relationship with the optimal placement of electrodes and the improvement of symptoms in the medium and long term.

The research team, led by Dr. Juan Aibar and Dr. Rodrigo Rodríguez, will involve not only neurosurgeons but also neurologists and other professionals specializing in movement disorders. This multidisciplinary collaboration will allow for a comprehensive and enriching approach to better understand the underlying neurological mechanisms in Parkinson’s disease and dystonias, as well as to improve the deep brain stimulation techniques used in the treatment of these diseases.

The Research Institute of the Hospital de la Santa Creu i Sant Pau – IIB Sant Pau has updated its Code of Good Practices in Research (CBPR-IIB), a tool that establishes guidelines for the development of scientific activity at the IIB Sant Pau. This code is a collective regulatory instrument that provides rules, recommendations, and commitments that should be considered by the scientific staff affiliated with the institution.

Its content complements the provisions of the current legal norms in this area and has been designed by the head of the RRI unit, Ma Rosa Ballester; reviewed by the Internal Scientific Committee, and approved by the External Scientific Committee, the Scientific Directorate, and the Governing Council of the IIB Sant Pau.

As a CERCA center, the IIB Sant Pau adheres to the Code of Conduct of this institution and follows the guidelines of the European Charter for Researchers regarding the roles and responsibilities of researchers and institutions in the research process and human resources.

THE CODE OF GOOD PRACTICES IN RESEARCH AND RRI

The update of the Code of Good Practices in Research is part of the actions included in the Responsible Research and Innovation (RRI) Plan, within the scope of the ethics agenda of this plan, together with the creation of the Integrity Committee for Research or the appointment of the ombudsperson of the IIB Sant Pau, among others.

The RRI Plan of the IIB Sant Pau aims to guide all professionals so that they can conduct research and innovation by applying the principles of Responsible Research and Innovation (RRI). The actions and proposals that we undertake from the IIB Sant Pau in relation to each of the RRI agendas are also available for consultation at this link.

Dr. Gemma Vilahur, from the Molecular Pathology and Therapeutics of Atherothrombotic and Ischemic Diseases group at the Research Institute of the Hospital de la Santa Creu i Sant Pau – IIB Sant Pau, has been appointed President of the European Society for Clinical Investigation (ESCI) during the annual congress of this scientific society held in Prague, Czech Republic.

ESCI, which will be presided over by Dr. Vilahur for the next 4 years, is one of the oldest scientific societies in Europe, founded in 1967, and its main objectives include promoting the improvement of human health through cross-cutting research in all fields of medicine.

Dr. Vilahur has a well-established expertise in cardiovascular disease, ranging from atherosclerosis and its risk factors to thrombosis and myocardial infarction, as well as in the identification of new targets and therapeutic strategies to prevent and treat heart attacks. She is the author of 288 articles in the cardiovascular area (180 PubMed articles), including original manuscripts, reviews, and position/consensus articles, and has contributed to 34 book chapters. She has been involved in more than 50 research projects, both at the national and European levels, and has received multiple scientific awards and grants. She is the former president (2020-2022) of the Thrombosis Working Group of the European Society of Cardiology.

The importance of transversal research

Medical research is advancing significantly, and the information generated in different areas is sometimes vast. In congresses and scientific journals, it is common to share this knowledge among experts and professionals interested in a specific field. However, it is increasingly evident that the body is highly interconnected, and there is bidirectional communication between different organs (brain-heart, microbiota-brain, etc.). Findings made in a particular disease or organ can be very useful for research in seemingly distant fields (inflammatory response, angiogenesis, metabolism, mitochondrial activity, aging, etc.). Therefore, it is essential for research to have a broad and integrated view of human pathology. This is precisely the motivation behind the creation of ESCI, as explained by Dr. Vilahur.

“It brings together scientists from many branches of knowledge who, through different symposia and working groups, gather and present and discuss the different findings in the scientific and clinical realms with a holistic and multidisciplinary approach.”

The new president emphasizes that the cross-cutting nature of this scientific society “is what makes it truly special and allows us to seek complementarities and promote multidisciplinary collaborations, unlike other societies that are more focused on a particular specialty,” according to Dr. Vilahur’s words.

Among her objectives for the next 4 years with ESCI, this expert from IIB Sant Pau highlights, among others, its growth to promote interdisciplinary research further. She also aims to increase the number of scholarships and grants offered by the society for both research and dissemination purposes.

This month of June we celebrated the Day of Transparency in Animal Research, and we want to highlight the Animal Experimentation Service (SEA) of the Sant Pau Research Institute. Coordinated by Dr. Laura Casaní, it is a service dedicated to the maintenance, care, and welfare of laboratory animals, the performance of experimental procedures involving them, and the processing of obtained samples. SEA also organizes surgical skills training.

SEA provides scientific, instrumental, and technical advice and support to different research groups. Furthermore, it ensures compliance with current legislation and advises on meeting the requirements of replacement, reduction, and refinement (3Rs) in the use of animals in experimental procedures. It has a conventional animal facility with the necessary installations to simultaneously house up to 40 pigs, 12 sheep, 114 rabbits, 350 rats, and 2,500 mice under conventional conditions. It also has working rooms for rodents and rabbits, as well as four experimental operating rooms for pigs and sheep. SEA has the SPF Biomodule, an isolated barrier area where up to 384 immunocompromised mice can be housed. Surgical skills training is also organized for healthcare personnel at SEA.

Lidia Puertas, a predoctoral researcher from the Research Group on Regulatory Mechanisms of Cardiovascular Remodeling and a member of CIBERCV, is studying new therapeutic strategies for abdominal aortic aneurysm, a degenerative vascular disease that affects around 8% of men over 65 years old and is associated with high mortality. Currently, there are no pharmacological treatments available to slow down its development.

As a user of the service, Lidia explains, “In addition to studying the molecular mechanisms that occur in patients with aneurysm, we also use a murine model that reproduces some aspects of the human pathology in order to test various drugs and monitor aortic diameter using ultrasound.” These mice are housed at SEA, and the necessary equipment is available for conducting the studies.

On the other hand, Dr. Lorena Alba-Castellon, a researcher from the Oncogenesis and Antitumor Drug group led by Dr. Ramon Mangues, uses SEA to study the in vivo effect of antitumor nanoparticles developed in the laboratory.

“We have developed a nanoparticle that targets the tumor microenvironment, specifically active tumor fibroblasts. Our hypothesis is that by eliminating these fibroblasts, there will be structural and signaling changes between different cell types in the tumor, resulting in a less aggressive tumor phenotype. Since our working hypothesis encompasses multiple components of the tumor, it is difficult to study it in vitro, and this is where we need the animal experimentation service. It allows us to develop mouse models of cancer to work with and confirm or reject our hypothesis.”

What this researcher values most about SEA are the professionals who work there, “always willing to advise and share knowledge.”

Campaign “Be Open about the Day of Animal Research”

Biomedical institutions worldwide share their stories and experiences with the public, and this year, the Sant Pau Research Institute has joined the #BOARD23 campaign by EARA by producing a series of videos that explain how their Experimental Animal Service (SEA) works and focus on the people involved in the platform.

SEA is the area dedicated to the maintenance, care, and welfare of laboratory animals, as well as working with experimental procedures and processing obtained samples. But what services does it offer? How does it comply with the 3Rs? Let’s discover it.

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As users of the Experimental Animal Services, researchers Lidia Puertas and Eduard Gallardo explain why using murine models is important for their research and how SEA complies with the 3Rs.

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For the Sant Pau Research Institute, animal welfare is very important. Sergi Florit, Manager of Animal Research Facilities, states that “By law, we observe and evaluate the general condition of the animals housed through daily supervision 365 days a year.”

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A study conducted by researchers at the Research Institute from Hospital Santa Creu i Sant Pau – IIB Sant Pau in Barcelona, Spain, has shown that deep brain stimulation of the subcallosal cingulate gyrus (SCG-DBS) can offer significant and lasting benefits for treating depression. The results of this research support the idea that this surgical intervention could be an effective alternative for patients suffering from severe major depression who have not responded to conventional treatments.

The study, published today in The Journal of Clinical Psychiatry, is the longest follow-up of patients conducted in Europe to date, analyzing clinical factors related to the long-term benefits and safety of deep brain stimulation of the subcallosal cingulate gyrus in treatment-resistant depression, as explained by Dr Javier de Diego and Dr Dolors Puigdemont, researchers in the Mental Health Research Group at IIB Sant Pau and psychiatrists at the same hospital.

A significant cause of disability and loss of quality of life

Depression is a disease that ranks among the leading medical causes of disability. It is estimated to affect nearly 300 million people worldwide. Conventional treatments generally yield good results, but it is estimated that 15 to 20% of patients do not respond adequately and show a more chronic and treatment-resistant course. These forms of treatment-resistant depression present a much higher risk of functional disability and have higher rates of complications and even mortality. Moreover, they have a much greater impact on quality of life.

“In these cases, in addition to combining pharmacological treatment with psychotherapy, we have the option of using combination or augmentation strategies with drugs and molecules that act through different mechanisms of action. We can even opt for interventions such as electroconvulsive therapy for the most severe cases. However, there is a small subgroup of more severe patients who either cannot tolerate these treatments or stop responding to these strategies, experiencing recurrences and frequent hospitalizations or a persistent chronic course. In these cases, deep brain stimulation can be a hopeful alternative,” says Dr de Diego.

This study analyzed data from sixteen patients with treatment-resistant major depression, diagnosed according to the criteria of the Diagnostic and Statistical Manual of Mental Disorders (DSM-IV or DSM-5), who received chronic deep brain stimulation of the subcallosal cingulate gyrus for a period of up to 11 years, from January 2008 to June 2019. Demographic, clinical, and overall functioning data were collected before surgery and during follow-up.

One of the most notable aspects, according to the psychiatrist from Sant Pau, is that patients showed sustained clinical improvements after the intervention, as measured by the 17-item Hamilton Depression Rating Scale (HAM-D17), the Clinical Global Impression, and the Global Assessment of Functioning.

The results demonstrate a significant decrease in depressive symptoms over time. As detailed by Dr de Diego, up to 75% of patients responded to treatment, and 50% ultimately achieved remission, meaning a reduction in symptoms below the threshold considered pathological, although not everyone could achieve complete functional recovery. “The repercussions of severe chronic depression are highly pronounced from a personal, social, and occupational perspective, and in many cases condemn individuals to a limited and isolated life for years,” explains Dr Puigdemont.

“A decrease in the frequency of depressive recurrences or an attenuation of symptom intensity are already very significant milestones for these individuals. In fact, in our sample, 40% of the treated patients achieved satisfactory levels of functional recovery, allowing them to enjoy their leisure time or engage in social and family life again, in some cases as they did before the onset of the illness,” explains the expert.

The effects are not immediate but are usually perceived within the first few months. Specifically, 55% of patients achieved remission an average of 139 days after the surgical intervention, according to the experts from Sant Pau.

In conclusion, deep brain stimulation of the subcallosal cingulate gyrus produced significant and lasting improvement in the majority of the patients studied, reinforcing the possibility that this technique may be an alternative for those suffering from treatment-resistant major depression when all other alternatives have been exhausted. “One of the current challenges is to identify clinical and neurobiological predictors of response in order to anticipate which cases of depression could benefit the most and determine the most appropriate parameters for deep brain stimulation in a more early and precise manner,” says Dr de Diego.

Deep brain stimulation is a technique that involves the implantation of ultra-thin electrodes in the brain, connected to small wires that run under the skin and reach a neurostimulator—similar to a pacemaker—that is usually placed in the pectoral or abdominal region. This neurostimulator generates electrical impulses whose parameters can be modified using an external controller until the desired response is observed. “The subcallosal cingulate cortex is a key brain region in depression. Evidence suggests that modulating the electrical activity in this region through deep stimulation can restore the functioning of brain circuits that are crucial in the persistence of these more severe and treatment-resistant depressive episodes,” explains Dr de Diego.

“The placement of the electrodes requires a thorough prior neuroimaging study and a surgical intervention that requires high precision and complexity, so multidisciplinary work between psychiatrists and neurosurgeons is essential. Subsequently, especially during the early post-intervention stage, it is necessary to closely monitor these patients, who require a comprehensive pharmacological, psychotherapeutic, and rehabilitative intervention plan,” reminds Dr Puigdemont.

In this study, researchers from the Mental Health Research Group at IIB Sant Pau, led by Dr Maria Portella, and several professionals from the Psychiatry Department of the same hospital, directed by Dr Narcís Cardoner, have worked closely with neurosurgeons Dr Rodrigo Rodríguez-Rodríguez and Dr Juan A. Aibar-Durán to provide this therapeutic alternative aimed at patients with the most severe affective disorders.

Reference article

• Carlo Alemany, Dolors Puigdemont, Ana Martín-Blanco, Rodrigo Rodríguez-Rodríguez, Juan A. Aibar-Durán, Muriel Vicent-Gil, Enric Álvarez, Víctor Pérez, Maria J. Portella, Javier de Diego-Adeliño. Response and Safety Outcomes in Treatment-Resistant Depression After Subcallosal Cingulate Gyrus Deep Brain Stimulation: Long-term Follow-up Study. J Clin Psychiatry 2023;84(0):22m14622

On the occasion of World ALS Day (June 21st), last Tuesday, June 20th, the event “Unzué and Sant Pau, a team against ALS” took place at the Modernist Site, featuring the participation of Juan Carlos Unzué, Dr. Ricard Rojas, neurologist, researcher, and coordinator of the ALS Functional Unit at Sant Pau, and Esther Sellés, director of the Miquel Valls Catalan ALS Foundation.

In a relaxed and enjoyable atmosphere, the event unfolded as a conversation between Juan Carlos Unzué, Dr. Ricard Rojas, and journalist Cristina Puig, with the incorporation of Esther Sellés, director of the Miquel Valls Catalan ALS Foundation.

At the beginning, a video was screened showing a routine visit by Juan Carlos Unzué to the Hospital de Sant Pau, where he was diagnosed in 2018 by the ALS Functional Unit led by Dr. Ricard Rojas. Due to the specific needs of the unit’s users, the team consists of different profiles, including neurologists, nurses, pulmonologists, rehabilitators, speech therapists, dieticians, social workers, and psychologists. Thanks to this multidisciplinary team, a comprehensive approach to the disease is achieved, providing the most complete assistance and treatment to patients, meeting their main goals of rapid diagnosis and decision-making focused on the specific needs of each patient.

During the conversation, various important issues related to the disease were addressed. Both Dr. Rojas and Juan Carlos Unzué agreed that the moment of diagnosis is one of the most crucial. On one hand, as Dr. Rojas explained, it is “the moment when the doctor-patient relationship is established,” a relationship that will be key throughout the entire process. As a doctor, Rojas explained that it is also one of the most challenging moments and that to do it as best as possible, it is essential to know the person who will receive the news, once again highlighting the importance of providing the closest and most humane care possible. The following video shows Dr. Rojas explaining how to deliver the diagnosis news for ALS.

THE IMPORTANCE OF ACCEPTANCE

Juan Carlos Unzué, from his point of view, explained that the warlike and fighting terminology often used in the disease is not the most appropriate. Instead, he said, “if I had to give advice to a person recently diagnosed with ALS, I would tell them that the most important concept is acceptance.” Sometimes many patients go through a stage of denial, but Juan Carlos Unzué emphasized that accepting the disease has allowed him to make the most of the possibilities in the new situation that the diagnosis placed him in, and thus, enjoy life to the fullest within the circumstances. This is one of the reasons why he has become a role model for many other people affected by ALS, and the following video is the best proof of how attitude towards the disease is essential.

FUTURE CHALLENGES OF ALS

After much experience in addressing and researching this disease, Dr. Rojas, who is also a researcher in the Neuromuscular Diseases Group at the Research Institute of the Hospital de la Santa Creu i Sant Pau – IIB Sant-Pau, states that “ALS is not a single disease, but the end stage of many different alterations that cause this high variability of symptoms and progression among patients.” Therefore, “in future research and approach, it is crucial to identify these alterations and classify patients into subgroups according to the typology they present in each case. Knowing what types of alterations cause neurodegeneration will allow us to offer more personalized treatment and also open new research avenues that will enable us to develop treatments capable of radically changing the course of the disease, which we do not have today and is crucial.”

Finally, the event concluded with interventions from some of the attendees, ALS patients, caregivers, and companions, who shared their experiences with Juan Carlos Unzué and the rest of the audience. In this video, you can watch the entire event from beginning to end on June 20th.

El Centre per a la Integració de la Medicina i les Tecnologies Innovadores (CIMTI) ha celebrat la jornada Crida Repte CIMTI 2023, que busca posar en valor la innovació del sistema sociosanitari català i que enguany s’ha enfocat a la promoció de la salut de la dona.

En el disseny i definició d’aquest repte han col·laborat les coordinadores del nou programa transversal de recerca en Salut de la Dona i Gènere de l’IIB Sant Pau, la Dra. Elisa Llurba, cap del grup de medicina perinatal i de la dona a l’IIB Sant Pau i directora del servei de ginecologia i obstetrícia a l’Hospital de Sant Pau, i la Dra. Ma Rosa Ballester, cap de la unitat de Recerca i Innovació Responsable a l’IIB Sant Pau. També les investigadores Dra. Rosa Corcoy, del Grup de Recerca en Endocrinologia, Diabetis i Nutrició, i la Dra. Virtudes Céspedes, cap del Grup de Recerca en Oncologia Ginecològica i Peritoneal.

Durant aquesta jornada en què s’ha presentat el repte determinat pels agents del sistema de salut i social de Catalunya i dirigit a propostes creades per equips multidisciplinaris, també ha assistit la cap de l’oficina Més Sant Pau, Patricia Pesudo.

Sant Pau està fent una clara aposta per fomentar la perspectiva de gènere en totes les seves àrees i grups d’investigació. Una mostra d’això és el programa transversal de recerca en Salut de la Dona i Gènere, creat en el marc del Pla de Recerca i Innovació Responsable (RRI). L’IIB Sant Pau està implementant accions adreçades a fomentar la incorporació de la perspectiva de gènere en el contingut de la recerca i a promoure la investigació específica de gènere per cobrir els buits de coneixement, posant en marxa els mitjans i recursos necessaris per facilitar-ho.

Dr. Roser Torra Balcells, coordinator of Hereditary Kidney Diseases at Fundació Puigvert and researcher in the Nephrology group at the Sant Pau Research Institute (IIB Sant Pau), has been appointed President-elect of the European Renal Association (ERA), during the 60th ERA Congress in Milan (June 15-18, 2023). Starting in 2024, she will preside over this international scientific association, which has 20,000 members, for a period of three years.

Dr. Roser Torra is a specialist in Nephrology, an expert in hereditary kidney diseases, and coordinator at Fundació Puigvert for various research networks on rare diseases, such as ERKnet and XUEC, as well as the Hereditary Kidney Diseases group of the Spanish Society of Nephrology (SEN) and the Catalan counterpart. She has also been a center coordinator in previous Nephrology research networks (RedInRen) and is currently coordinating the RICORS40 network.

Expert in hereditary kidney diseases

Currently, there are more than 300 hereditary kidney diseases. Among them, autosomal dominant polycystic kidney disease stands out, which was the topic of her doctoral thesis titled “Clinical, Genetic, and Molecular Studies of Autosomal Dominant Polycystic Kidney Disease.” This condition affects approximately one person per thousand and is considered the most common within this group. Additionally, there are many other hereditary kidney diseases, some of which are very rare and, therefore, difficult to diagnose. In this regard, Dr. Torra clarifies that “the diagnosis of these diseases presents significant challenges since early clinical suspicion and early diagnosis can make a big difference in the lives of these individuals.” However, she points out future challenges such as “the incorporation of artificial intelligence (AI), a tool that will open up many possibilities for both research and diagnosis of these conditions.”

Mandate objective

Chronic kidney disease Chronic kidney disease is underdiagnosed and is a cause of high morbidity and mortality, as well as high healthcare expenditure, resulting in a significant economic and social impact. It is estimated that this condition will be the fifth leading cause of death by 2040, making it urgent to implement preventive measures to reverse this trend. Among the main objectives of Dr. Torra’s tenure at the helm of ERA is to “promote excellence in renal medical care through education and research.”

From her perspective, nephrology will have to adapt due to the increasing incidence of chronic kidney disease in the coming years. “We must decisively respond to changing contexts and cultivate relationships with other institutions to generate synergies and share data, but the health of the patient will be my number one priority as a physician and one that I will always keep in mind, especially as President of ERA.”

First female presidency

Dr. Torra is the first woman to hold the presidency of this scientific society, which she considers an honor and, at the same time, a great challenge. “I face it with a lot of humility but even more determination. I embark on this new responsibility with great enthusiasm, extensive experience, and, most importantly, a current personal and professional life that allows me to devote time to my duties as President of ERA to enhance the prestige and role of ERA in international nephrology.”

The specialist acknowledges identifying with the “impostor syndrome” since many women of her generation have faced serious difficulties in balancing their professional and family lives, contributing to a prominent male presence. “Sometimes it is even difficult for me to recognize the fact of identifying with the impostor syndrome because that implies accepting that I really have the capabilities for it.”

For her, it is a pride to break this barrier and pave the way for other nephrology specialists so that they can aspire to occupy positions of responsibility and represent nephrologists in different international institutions.

Other biographical details of interest

Dr. Torra studied Medicine and Surgery at the Autonomous University of Barcelona (UAB) and specialized in Nephrology at the Clínic Hospital. Subsequently, she delved into the field of genetics under the guidance of Dr. Xavier Estivill and specialized in the study of hereditary kidney diseases, on which she has published more than 200 articles and has developed various projects and received competitive grants (ISCIII, Marató TV3…). She has twice received the “Iñigo Álvarez de Toledo” Nephrology Research Award, one of the most prestigious in Spain.

La música és poderosa. Pot tenir tal efecte sobre el nostre estat d’ànim que una persona pot passar de la tristesa a l’alegria quasi de manera instantània. Però a més, pot ajudar a millorar el nostre benestar i tenir efectes positius sobre el nostre estat físic i millorar aspectes com la percepció del dolor.

Quan l’activitat musical ve proposada i dissenyada per part d’un musicoterapeuta professional aquests efectes es potencien encara més. Així ho han explicat Iria González, investigadora principal, infermera i responsable de projectes d’humanització hospitalària a l’IIB Sant Pau, i Patricia Martí, psicooncòloga i musicoterapeuta, Oncolliga i ESMUC, que van presentar els resultats del projecte de musicoteràpia en pacients de càncer hematològic al Sónar+D.

Les expertes han explicat que la musicoteràpia és aquella disciplina que utilitza aquesta capacitat de la música per millorar el benestar d’una persona. S’utilitza en molts àmbits, i en concret, des de l’IIB Sant Pau estudiem quins són els efectes de la musicoteràpia en pacients amb càncers hematològics i els seus cuidadors. Els resultats de la investigació han demostrat una reducció de la tristesa, ansietat i del malestar físic en els pacients.

Aquest projecte de recerca neix d’una col·laboració amb l’Institut de Recerca de Sant Pau, l’Hospital de la Santa Creu i Sant Pau – IIB Sant Pau, l’Escola Superior de Música de Catalunya (ESMUC) i Oncolliga i  està adreçat tant a les persones afectades de malaltia onco-hematològica que es trobin ingressades a la unitat, ja sigui a una càmera d’aïllament com a una habitació, como els seus cuidadors familiars i els professionals sanitaris de la unitat.

El Sónar+D és un espai dedicat a veure, escoltar, tocar i debatre sobre com s’aplica la IA a la producció musical o audiovisual, a abordar les possibles conseqüències ètiques, industrials i socials del seu ús.

El Dr. Saül Martínez-Horta, investigador del grup de Malaltia del Parkinson i Trastorns del Moviment a l’Institut de Recerca de l’Hospital de la Santa Creu i Sant Pau – IIB Sant Pau i neuropsicòleg de la Unitat de Trastorns del Moviment del Servei de Neurologia del mateix hospital, ha estat guardonat amb el premi extraordinari de l’Escola de Doctorat del Departament de Medicina de la Universitat Autònoma de Barcelona (UAB) per la tesi defensada el curs 2020/21. Dirigida pel Dr. Jaume Kulisevsky i el Dr. Javier Pagonabarraga, porta per títol “Correlats neuronals i neuropsicològics de les alteracions cognitives i conductuals en les fases prodròmica i inicial de la malaltia de Huntington”. Podeu llegir-la aquí.

Els objectius de la tesi s’han adreçat a la recerca d’algunes respostes per a incògnites encara pendents al voltant de la malaltia de Huntington, una patologia neurodegenerativa i minoritària de base genètica.

D’aquesta manera, al llarg de les cinc publicacions científiques que componen la tesi, s’han estudiat quins mecanismes modulen l’inici de la malaltia i el dany cerebral associat en persones que tenen una mateixa carrega genètica, demostrant l’efecte del bilingüisme sobre aquests factors. Igualment, s’han identificat marcadors subtils de dany neuronal en persones asimptomàtiques demostrant alhora que presenten certes anomalies visuoperceptives prèviament mai descrites. També s’han identificat els mecanismes neuronals implicats en el desenvolupament i en la severitat de la irritabilitat i agressivitat en els pacients afectats, el perfil de deteriorament cognitiu que acompanya la transició a la demència i els canvis cerebrals que associen els pacients amb patrons de deteriorament cognitiu més severs.

Segons el Dr. Martínez-Horta, “el caràcter minoritari de la malaltia de Huntington ha suposat, comparat amb altres processos neurodegeneratius més freqüents, un avenç desajustat i lent en la comprensió dels mecanismes neuropatològics responsables de les complexes manifestacions clíniques que suposa la malaltia, així com en la identificació i descripció detallada dels fenotips clínics que la caracteritzen”.

També emfatitza en com “el desenvolupament d’estudis observacionals multicèntrics i internacionals ha permès, en els últims 15 anys, aprofundir de manera molt notable en el coneixement de la malaltia gràcies al seguiment de grans cohorts de persones afectades, feina que a la Unitat de Trastorns del Moviment i, específicament a la Unitat Funcional de malalties minoritàries que cursen amb trastorns del moviment, anem realitzant des de fa més de 12 anys havent situat l’Hospital de Sant Pau com a un dels centres més reconeguts en l’àmbit internacional en l’abordatge i investigació de la malaltia de Huntington”.

Actualment, el Dr. Martínez-Horta juntament amb la resta de membres que formen part de la Unitat dedicada al tractament i recerca en malaltia de Huntington, realitzen assajos clínics pioners i treballen a identificar mecanismes biològics que de manera addicional a la mutació genètica que causa la malaltia, juguin un paper central en el curs clínic i puguin suposar noves dianes terapèutiques.