Round 1 (Collection date March 2020)
Applicants | Country |
McKay, Dave M. (Principal applicant) Aniridia Network | United Kingdom |
van Heyningen, Veronica Institute of Ophthalmology, University College London | United Kingdom |
Sánchez de Vega, Rosa Aniridia Europe | Norway/Spain |
Moosajee, Mariya Institute of Ophthalmology, University College London | United Kingdom |
Bylė, Irma Association “AniridijaLT” | Lithuania |
Lima Cunha, Dulce Institute of Ophthalmology, University College London | United Kingdom |
Damante, Giuseppe Dept. Medicine, University of Udine | Italy |
Hall, Hildegard Nikki MRC Institute of Genetics and Molecular Medicine, University of Edinburgh/ Princess Alexandra Eye Pavilion, Edinburgh | United Kingdom |
Grupcheva, Christina Dept. Ophthalmology and Visual Science, Varna Medical University | Bulgaria |
Tsoneva, Elena Association Aniridia Bulgaria | Bulgaria |
Abstract
This event enables sharing of specialist knowledge about the rare genetic eye condition aniridia. Its goal is to develop better understanding to tackle sight loss and other effects of to aniridia. Professionals such as: ophthalmologists, researchers, vision scientists, and geneticists will gather with people who have aniridia and their relatives, to upskill each other. Aniridia is visual impairment present at birth. Most people with aniridia have all or part of their irises (the coloured rings in the eyes) missing. Other parts of the eye are typically under-developed. Other conditions often lead to further sight loss. Aniridia is usually caused by an abnormality in a gene called PAX6. It also controls brain and pancreas functions. So patients may also have disturbed sleep and predispositions to obesity or diabetes. It can occur as part of more significant condition known as WAGR/11p Deletion Syndrome. Understanding aniridia is challenging, due to the scattered patient population, its highly variable impact and complications of linked conditions. This event innovatively addresses this by bringing all the stakeholders together for 3 days. Researchers and clinicians will discuss their latest work and experience of the disease, with contributions from patients. New approaches to clinical management, drug development, and stem cell therapy will be presented. There will also be tours of the laboratories at UCL Institute of Ophthalmology. Patients and relative have the unique chance to get a free 30 minute consultation with the world’s top aniridia experts at Moorfields Eye Hospital.
Applicants | Country |
Schermer, Bernhard (Principal applicant) Department II of Internal Medicine, Nephrolab, University Hospital of Cologne | Germany |
Firat-Karalar, Elif Nu, Dept. of Molecular Biology and Genetics, Koç University | Turkey |
Čajánek, Lukáš Faculty of Medicine, Dept. of Histology and Embryology, Masaryk University | Czech Republic |
Wloga, Dorota Nencki Institute of Experimental Biology, Polish Academy of Sciences | Poland |
Harris, Tess Ciliopathy Alliance | United Kingdom |
Mill, Pleasantine MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh | United Kingdom |
Blacque, Oliver Conway Institute; School of Biomolecular and Biomedical Science, University College Dublin | Ireland |
Jurisch Yaksi, Nathalie Kavli Institute for Systems Neuroscience, Norwegian University of Science and Technology | Norway |
Meunier, Alice Institut de Biologie de l’Ecole Normale Supérieure, CNRS | France |
Abstract
Cilia are tiny, antennae-like cell organelles that can be found on almost all cells of the human body. Research has revealed, that a growing number of genetic diseases result from defects in cilia collectively termed the ‘ciliopathies’. Some cilia are motile and involved in moving either liquids or cells within the body, whilst other cilia are immotile and transmit key signals from outside to the cell’s interior. Since cilia occur within virtually all tissues, the spectrum of cilia-associated diseases is very broad, affecting the kidneys, lungs, brain, eyes and many more. The ciliopathies represent a spectrum of ~40 overlapping syndromes caused by mutations in nearly 200 genes. Whilst often very rare individually, collectively the ciliopathies are thought to affect 1:1000 births. In October, basic researchers and clinicians from all over the world will meet in Cologne at “Cilia2020”. As the largest cilia conference, it uniquely integrates patients and their representatives in the program with the aim of promoting bidirectional interactions between scientists and those impacted by ciliopathies. In 2020, we aim to expand this meeting to countries typically underrepresented in any international research networks and to enlarge the community. Our “Cilia2020 – Interconnect” satellite events aim to sustainably enhance diversity of the cilia/ciliopathy community within and around Europe. This will accelerate gene discovery and improve understanding of disease mechanisms, as well as facilitating development of much needed therapies for ciliopathies.
Applicants | Country |
Sireau, Nicolas (Principal applicant) The AKU Society | United Kingdom |
Santucci, Annalisa Biotechnology Chemistry & Pharmacy, Università degli Studi di Siena | Italy |
Lakshminarayan, Ranganath Clinical Biochemistry & Metabolic Medicine, Royal Liverpool Hospital, Liverpool University Hospitals | United Kingdom |
Zatkova, Andrea Biomedical Research Centre, Institute for Clinical and Translational Research, Slovak Academy of Sciences, Bratislava | Slovak Republic |
De Kock, Joery, Dept Toxicology, Vrije Universiteit Brussel (VUB), Faculty of Medicine and Pharmacy | Belgium |
Imrich, Richard Biomedical Research Centre, Institute for Clinical and Translational Research, Slovak Academy of Sciences, Bratislava | Slovak Republic |
Kujawa, Mariusz Radiology, Institution Medical University of Gdansk | Poland |
Gallagher, James Dept Musculoskeletal Biology, University of Liverpool | United Kingdom |
Abstract
Alkaptonuria, also known as AKU or Black Bone Disease, is an extremely rare genetic condition, which can cause significant damage to the bones, cartilage and tissues of those affected. AKU normally only affects one in every 250,000 people worldwide. It causes a build-up of a substance called homogentisic acid (HGA), which binds to cartilage and bone and turns tissues black, in a process called ochronosis. This causes severe early onset osteoarthritis. The nature of the disease leads to severe disability and long-term pain.
The AKU Scientific Conference will facilitate the sharing of knowledge about the condition among AKU world experts and aspiring scientists wishing to excel in AKU research in the future. It will focus on next steps in research following the recently ended DevelopAKUre clinical trials, a future gene therapy, an upcoming children’s study and a co-therapy for patients to take alongside the vital drug nitisinone – a drug which improves symptoms and signs of AKU. This conference will be key for pushing forward the next exciting stages of AKU research as we now have a successful drug that is on its way to be licensed, and we are looking to advance research to cure AKU.
Our conference will be the first steps towards the final stage of the AKU mission, to find a cure for this debilitating disease.
Applicants | Country |
Kedar, Amir (Principal applicant) The Israeli Wiskott Aldrich Syndrome Association | Israel |
Thrasher, Adrian Infection, Immunity and Inflammation, UCL Great Ormond Street Institute of Child Health, London | United Kingdom |
Albert, Michael Pediatric Hematology/Oncology, Dr. von Hauner University Children’s Hospital, LMU, Munich | Germany |
Villa, Anna Sr TIGET, IRCCS Ospedale San Raffaele, Milan | Italy |
Abstract
The third international symposium for researchers and clinicians on Wiskott Aldrich Syndrome is being held in London UK and offers access to the latest research and analysis related to this rare disease. The participants will gain valuable insights into innovative perspectives in both basic and clinical research. The scientific programme will draw together experts from around the world to discuss breakthroughs in basic research, advances in clinical practice, novel therapeutic approaches and new insights into stem-cell and cellular therapies. This unique networking event is ideal forum to share knowledge, connect with colleagues and grow professional network. The goals of this meeting are:
- Expanding WAS/XLT and WASp research.
- Bridging the gap between basic and clinical research to speed up applications.
- Foster collaboration among researchers.
- Attract young researchers to focus on WAS/XLT and WASp.
Our three keynote lectures present the most recent knowledge in the research and clinical field of WAS. Prof. David Rawlings will talk about “Lessons learned regarding immune tolerance and progress towards new therapies for WAS”, Prof. Anna Villa will shed light on “Platelets defects in Wiskott-Aldrich Syndrome” and Prof. Michael Albert will discuss about “HSCT for WAS – What have we learned in 50 years and what promises does the future hold?”. As in our previous events, unpublished data regarding WAS and WASp research will be presented and discuss among participants. The data presented and the different topics discussed in this event are rarely accessible elsewhere
Applicants | Country |
Scarpa, Maurizio ( (Principal applicant) Regional Coordinating Centre for metabolic diseases, Azienda Sanitaria Universitaria Friuli, Udine | Italy |
Jansen, Marleen Netherlands National Institute for Public Health and the Environment (RIVM) | The Netherlands |
Cornel, Martina Clinical Genetics and Amsterdam Public Health Research Institute, Amsterdam University Medical Center | The Netherlands |
Tangeraas, Trine Dept. of Paediatric and Adolescent Medicine, OUH Riskhospitalet | Norway |
Kozich, Viktor Dept of Paediatric and Adolescent Medicine, Charles University-1st Faculty of Medicine and General University Hospital, Prague | Czech Republic
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Bonham, Jim Clinical Chemistry, Sheffield Children’s NHS Foundation Trust | United Kingdom |
Hedley, Victoria John Walton Muscular Dystrophy Research Centre, Newcastle University | United Kingdom |
Baumgartner, Matthias Division of Metabolism, University Children’s Hospital Zurich – Eleonore Foundation | Switzerland |
Abstract
There are big differences between European countries when it comes to newborn screening (NBS). Taking into consideration the overall needs and priorities regarding health conditions and system resources, there is room for a feasible improvement on NBS programmes in EU by means of a shared consensus document (roadmap). We consider it crucial to initiate a broad discussion involving the whole spectrum of stakeholders participating in debates about NBS such as representatives of scientific organisations, patient representatives, MetabERN and other stakeholders. We therefore organize two meetings in 2020 to drive this topic forward to deepen collaboration between stakeholders: a brainstorming session in April organized by MetabERN and a meeting under the EJP-NSS, which will integrate wider stakeholder perspectives to advance the topic of NBS. This meeting will be organised back-to-back with the conference of the International Society for Newborn Screening (ISNS). It will build upon past discussions and first steps from Member States under the EU Committee of Experts on Rare Diseases and reignite discussions on areas for potential European-level collaboration. The final result will be a consensus paper with steps toward identifying potential barriers and finding common grounds for NBS, involving pre-post born management, follow up of the affected child, family assistance and discuss technical discussion regarding criteria for the expansion of NBS . The outcome of this process will be a roadmap for policy-makers, the scientific community and advocacy organisations.
Round 2 (Collection date September 2020)
Applicants | Country |
Petersen, Claus (Principal applicant) Pediatric Surgery, Hannover Medical School | Germany |
Davenport, Mark Pediatric Surgery, Kings College Hospital, London | United Kingdom |
Verkade, Hendrik Jan Pediatric gastroenterology and hepatology and nutrition, The Beatrix Children’s Hospital of the University Medical Center Groningen | The Netherlands |
Socha, Piotr Gastroenterology, Hepatology, Pediatrics and Nutritional Disorders, The Childrens’ Memorial Health Institute, Warsaw | Poland |
Fischler, Björn Pediatric hepatology, Karolinska University Hospital, Stockholm | Sweden |
Dezsöfi, Anta First Dept of Pediatrics, Semmelweis University, Budapest | Hungary |
Wildhaber, Barbara Pediatric surgery, University Hospitals of Geneva | Switzerland |
Madadi-Sanjiani, Omid Pediatric Surger, Hannover Medical School | Germany |
Pakarinen, Mikko Petteri Dept. Pediatric Surgery, Children’s Hospital, Helsinki University Hospital, University of Helsinki | Finland |
Samyn, Marianne Paediatric Liver, GI and Nutrition Centre, King’s College Hospital NHS Foundation Trust, London | United Kingdom |
Abstract
The BARD-Bruges-2021 congress is the 2nd International and Interdisciplinary event about biliary atresia and related diseases. The core issues of the program are six controversial topics: neonatal cholestasis (diagnostic algorithm); biliary atresia (surgery/ adjuvant therapy/transition); cholangitis (definition/therapy); choledochal malformations (diagnostic algorithm, timing and technique ofsurgery, long-term follow-up) portal hypertension (diagnostics/shunting) and pediatric liver surgery (incl. liver transplantation). The faculty members have already built multidisciplinary pre-congress working groups in order to develop broad-based consensus. The aim is to formulate, using Delphic principles, six reliable algorithms and best procedure protocols before the meeting. During the meeting we will debate the proposals and achieve some sorely-needed consensus and expert-led guidelines, which will be submitted to relevant peer-reviewed journals. In Bruges, we desire synergisms with other ERN-rare-liver disease groups and will actively involve patients´ organisations. Additional topics are the role of screening programs (biliary atresia) and transition of adolescent patients into adult medicine.The meeting in Bruges is structured as a continuation of the BARD-Berlin-2014 congress. For further information click at www.bard-online.com.
Applicants | Country |
Scheiner, Bernhard (Principal applicant) Dept. Internal Medicine III, Division of Gastroenterology and Hepatology, Medical University of Vienna | Austria |
Rautou, Pierre-Emmanuel Dept. Hepatology, Inserm – Université de Paris | France |
Garcia-Pagan, Juan Carlos Liver Unit, Hospital Clinic de Barcelona, University of Barcelona | Spain |
Lisman, Johannes Antonius (Ton) Surgical Research Laboratory, Department of Surgery, University Medical Center Groningen | The Netherlands |
Procopet, Bogdan 3rd Medical Clinic, University of Medicine and Pharmacy „Iuliu Hatieganu” Cluj-Napoca | Romania |
Abstract
The term “vascular liver diseases” comprises several rare diseases such as the idiopathic non-cirrhotic portal hypertension, the porto-sinusoidal vascular disease, the Budd-Chiari-Syndrome, the Rendu-Osler-Weber syndrome, the sinusoidal obstruction syndrome as well as splanchnic vein thromboses. According to a recent publication by the European Association for the Study of the Liver (EASL) one of these diseases affects around 1 in 10000 persons. Proper knowledge on the natural course of these diseases as well as adequate management are important as these entities often affect young and otherwise healthy individuals and may cause significant morbidity and mortality. However, diagnosis and treatment initiation are commonly delayed which also prompted the Vascular Liver Disease Group (VALDIG) of the EASL to define a new entity named “porto-sinusoidal vascular disease” in 2019 to facilitate diagnosis and stipulate research in this area. Unfortunately, patients with idiopathic non-cirrhotic portal hypertension / porto-sinusoidal vascular disease are still commonly misdiagnosed as having liver cirrhosis which may not only cause improper treatment but also stigmatization. One of the difficulties in diagnosis and treatment of these entities, is the need for a strong cooperation between different specialists such as hepatologists, pathologists as well as (interventional) radiologists. Therefore, the aim of this networking meeting is to improve knowledge on these diseases and to stipulate multidisciplinary, international research in order to improve the management of our patients.
Applicants | Country |
Alberch, Jordi (Principal applicant) Dept. Biomedical Sciences, University of Barcelona | Spain |
Danek, Adrian Neurologische Klinik und Poliklinik, Ludwig-Maximilians-Universität, Munich | Germany |
Sibon, Ody Dept. Cell Biology, University of Groningen | The Netherlands |
Hermann, Andreas, Translational Neurodegeneration Section “Albrecht Kossel”, Dept Neurology, University Rostock | Germany |
Zoladek, Teresa Institute of Biochemistry and Biophysics, Polish Academy of Sciences, Warsaw | Poland |
Miltenberger, Gabriel Instituto de Medicina Molecular, University of Lisbon | Portugal |
De Franceschi, Lucia Dept. Medicine, University of Verona and Azienda Ospedaliera Universitaria Integrata | Italy |
Irvine, Ginger Advocacy for Neuroacanthocytosis Patients | United Kingdom |
Velayos-Baeza, Antonio Dept. Physiology, Anatomy and Genetics, The Wellcome Trust Centre for Human Genetics, University of Oxford | United Kingdom |
Abstract
Neuroacanthocytosis syndromes (NA) are a group of rare, but devastating, neurodegenerative disorders, with Chorea Acanthocytosis as the “core” disease of this family. To date there are no treatments that can halt or slowdown the progression of these diseases. Since these are ultra-rare disease, there is very little or no support of industry and other public and private agencies is rare. Therefore, it is very important for these patients to have a strong NA community bringing together basic and clinical neuroscientists, neurologists and patients worldwide to address new discoveries in these diseases. This international community was successfully established 20 years ago. Thus, the aim of the 10th International Meeting on Neuroacanthocytosis Syndromes is to continue with this scientific / social platform that has been very useful to lead scientific approaches and the guidelines of patients’ healthcare for almost two decades. The setting of the meeting will encourage interactions, exchange of ideas and networking opportunities among all participants. PhD students and young researches will have the opportunity to present and discuss their work during the meeting. It is very relevant that patients, caregivers and patient’s associations are present in this meeting together with scientists and physicians. Thus, the meeting program schedules mixed sessions where the next steps and action points (scientific /social) are discussed to establish synergies in our quest to advance knowledge and practice. We must work all together to give some hope to the patients and their families.
Applicants | Country |
Coppola, Antonietta (Principal applicant) Neuroscience, Odontostomatology and Reproductive Sciences, Federico II University of Naples | Italy |
Depienne, Christel Institut für Humangenetik, University Hospital Essen | Germany |
Van Rootselaar, Anne-Fleur Dept. Neurology, Amsterdam UMC/Academic Medical Center; University of Amsterdam | The Netherlands |
Striano, Pasquale Dept. of Neurosciences, Rehabilitation, Ophtalmology, Genetics, Maternal and Child Health, University of Genoa, G.Gaslini Institute | Italy |
Licchetta, Laura Dept. Biomedical and Neuromotor Sciences, IRCCS Istituto delle Scienze Neurologiche di Bologna, University of Bologna | Italy |
Van den Maagdenberg, Arn Depts. Human Genetics & Neurology, Leiden University Medical Center | The Netherlands |
Tijssen, Marina Dept. Neurology, Expertise centre Movement Disorders Groningen, University of Groningen | The Netherlands |
Brancati, Francesco Dept. Life, Health and Environmental Sciences, University of l’Aquila | Italy |
Baykan Betül Depts. Neurology and Clinical Neurophysiology, Istanbul University Faculty of Medicine | Turkey |
Canafoglia, Laura Epileptology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan | Italy |
Abstract
Familial Adult Myoclonic Epilepsy (FAME) is an autosomal dominant rare genetic condition, characterized by cortical tremor, myoclonus and generalized tonic-clonic seizures. FAME is considered a slowly progressive neurodegenerative condition.
Recently the genetic cause has been identified as a complex intronic pentameric expansion followed by a pentameric insertion affecting different genes: SAMD12 for families linked to chr8q24(FAME1), STARD7 for families linked to chr2p11.2-q11(FAME2), MARCHF6 for families linked to chr5p15.31-p15 (FAME3), YEATS2 for families linked to chr3q26q28(FAME4). Although the proteins encoded by these genes have different functions and subcellular localizations, the pathogenic mechanism might be the same. Indeed the production of the proteins is not affected suggesting that the expansion itself could produce toxic RNA species. The neurophysiological and neuropathological findings point out the cerebellum as a key brain structure of the dysfunctions. Indeed the cortical hyperexcitability could result from the decreased cortical inhibition by the cerebellum through cerebello-thalamocortical projections. At this moment there is neither a resolving nor preventive treatment for FAME. Clinical management is based on antiepileptic medications that control seizures while having a limited effect on the myoclonus. Notably, some antiepileptic drugs are contraindicated or even deleterious in this condition. Elucidating the pathogenesis of this condition would provide further insight into a possible precision medicine approach.
Applicants | Country |
Del Álamo, Marta (Principal applicant) Clinical Operations, European Clinical Research Infrastructure Network, Paris | France |
Lingor, Paul Dept. of Neurology, Klinikum rechts der Isar der TU München | Germany |
Bührer, Christoph Klinik für Neonatologie, Charité – Universitätsmedizin Berlin | Germany |
Griese, Matthias Division of Pediatric Pneumology, University Hospital Munich, Dr. von Hauner Children´s Hospital | Germany |
Sireau, Nick AKU Society | United Kingdom |
Hivert, Virginie Eurordis-Rare Diseases Europe | France |
Palladini, Giovanni Biotechnology Research Laboratories, Foundation “Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Policlinico San Matteo, Pavia | Italy |
Fischer, Dirk Neuropediatrics, University Children’s Hospital Basel | Switzerland |
Demlová, Regina Dept. Pharmacology, Masaryk University, Brno | Czech Republic |
Sangiorgi, Luca Dept. Rare skeletal disorders, Istituto Ortopedico Rizzoli, Bologna | Italy |
Abstract
Drug development in RD have many challenges, as the lack of clinical research experts and the scarcity of patients. Multinational clinical trials are required to achieve sufficient recruitment but international collaboration in clinical trials is constrained by scientific, ethical, economical and regulatory considerations. Different sponsors may have different capacities to address these constraints leading to different collaborative patterns. Academic-led clinical trials face a high number of specific challenges, including lack of funding, inadequate infrastructures to plan and execute the trials or structured processes to facilitate academic collaborations, that results in difficulties to access the right partner assisting on the operational management. Academic-sponsored trials often focus on refining indications of available treatments and to optimize therapeutic strategies that do not have as much financial gain to the pharmaceutical industry, thus having their own additional specific significance. In recognition of the importance of supporting academic clinical research despite its many challenges, this workshop will gather investigators involved in rare-diseases academic-sponsored trials on drug repurposing and other RD clinical research stakeholders (clinical research infrastructures, RD supporting programs representatives, patient organizations) to identify systematic problems/challenges in the set-up of academic-sponsored international clinical trials and promote initiatives aiming to fill up the gaps (guidelines, recommendations, inventories of existing tools).
Round 3 (Collection date December 2020)
Applicants | Country |
Zschocke, Johannes (Principal applicant) Institute for Human Genetics, Medical University Innsbruck | Austria |
Kapferer-Seebacher, Ines Dept. Operative and Restorative Dentistry, Medical University Innsbruck | Austria |
Gaboriaud, Christine Institute for Structural Biology, Interdisciplinary Research Institute of Grenoble | France |
Van Dijk, Fleur North West Thames Regional Genetics Service, London North West Healthcare NHS Trust | United Kingdom |
Malfait, Fransiska Center for Medical Genetics, Ghent University and Ghent University Hospital | Belgium |
Abstract
Ehlers-Danlos syndromes (EDS) are a heterogeneous group of connective tissue disorders. Apart from 3 common types (classical/vascular/hypermobile EDS) there are 10 rare types linked to 20 different disease genes. The pathogenesis of the rare EDS forms and the reasons for variable clinical presentations are only partly understood. Latest research suggests important links of the innate immune system with connective tissue homeostasis which is particularly relevant for the rare EDS types. This has also been the focus of an ANR-FWF funded Austrian-French joint project on the link between complement 1 and periodontal EDS. The planned networking event – planned as a hybrid meeting – will summarize current knowledge about the production, assembly and regulation of extracellular matrix components as well as their possible interaction with the immune system. Normal and abnormal cellular functions in the rare EDS types will be discussed also with regard to therapeutic options.
Aim is the strengthening and expansion of the rare EDS clinical and basic research networks with identification of the most pertinent research questions. The meeting combines state-of-the art research and overview presentations with reports from clinical cohort studies. It is linked to a patient-oriented virtual meeting in which the current knowledge on all rare EDS types is presented to an international audience including patients and non-specialist clinicians. This will be broadcast live with translation in 4 languages with support of the EDS Society, an international patient advocacy organization.
Applicants | Country |
Viti, Federica (Principal applicant) Institute of Biophysics, National Research Council, Genova | Italy |
Ceccherini, Isabella Lab. Genetics and Genomics of Rare Diseases, Istituto Giannina Gaslini, Genova | Italy |
Vassalli, Massimo James Watt School of Engineering, University of Glasgow | United Kingdom |
Thapar Nikhil Dept. Developmental Biology and Cancer, UCL Great Ormond Street Institute of Child Health, London | United Kingdom |
Molnar, Maria Judit Institute of Genomic Medicine and Rare Disorders, Semmelweis University, Budapest | Hungary |
Palmitelli, Alessandro Associazione Poic e dintorni Onlus | Italy |
Alves, Maria Dept. Clinical Genetics, Erasmus University Medical Center | The Netherlands |
Abstract
Visceral Myopathy (VSCM), a myogenic form of chronic intestinal pseudo-obstruction, is a rare severe genetic disease showing variable neonatal dysfunction in bladder and gut motility. It often provides an overall devastating clinical picture. The true incidence of VM remains largely unknown due to difficulties in diagnosis. Nevertheless, available data suggest that VM is very rare, showing an incidence of possibly <1 in 100,000. VSCM lacks effective strategies to diagnose, characterise and manage.
The creation of an International and multidisciplinary taskforce between clinicians, researchers and Patient Advocacy Organizations representatives is necessary to address major VSCM needs. A kick-off event is crucial to support the establishment of a long-lasting European initiative to focus on the many challenges posed by VSCM. The event will focus on state of the art, emerging approaches and futuristic visions related to VSCM, with special interest for: clinical diagnosis and patient management; genetics and onset molecular mechanisms; advanced models and methods to address VSCM diagnosis and therapy; therapeutic approaches and potential candidates for drug treatments; research-support framework. Expected outcomes of the event regard: 1. a clear assessment of the state of the art on VSCM; 2. the identification of the most pressing needs in the context of disease management; 3. the creation of scientific taskforces to address outstanding topics in research and clinic; 4. the coordination of European data and material sharing initiatives; 5. a future common fund-raising strategy.
Applicants | Country |
Aibar Moreno, José Angel (Principal applicant) Dravet Syndrome Foundation Spain | Spain |
Cardenal Munoz, Elena Dravet Syndrome Foundation Spain | Spain |
Broccoli, Vania Division of Neuroscience, San Raffaele Scientific Institute – CNR Neuroscience Institute, Milan | Italy |
Rubinstein, Moran Goldschleger Eye Research Institute. The Department of Fluman Molecular Genetics and Biochemistry, Tel Aviv University | Israel |
Lignani, Gabriele Dept. Clinical and Experimental Epilepsy, UCL, Queen Square Institute of Neurology, London | United Kingdom |
Elernandez-Alcoceba, Ruben CIMA, Gene Therapy Program, University of Navarra | Spain |
Mantegazza, Massimo, Institute of Molecular and Cellular Pharmacology, CNRS and University Cote d’Azur, Valbonne | France |
Karda, Rajvinder Institute for Women’s Health, University College London | United Kingdom |
Hernando Llorente, Rodrigo Dravet Syndrome Foundation Spain | United Kingdom |
Abstract
Dravet syndrome (DS) is a rare disease whose symptoms start in the first year of life, with seizures triggered by fever followed by a drug-resistant epilepsy. It also causes severe cognitive, motor and speech delays, as well as behavioural problems. Due to the genetic nature of the disease, advanced therapies (AT) such as those based in gene or protein modification represent new hope in the search for an effective treatment for this pathology.
Dravet Syndrome Foundation Spain (FSD) and the Dravet Syndrome Advanced Therapies European Working Group (DS ATEWG), formed by top scientists in the field of AT for DS and related encephalopathies, organize the European Dravet Syndrome Advanced Therapies Meeting 2021 (EDSAT 2021), a 1-day satellite meeting to the Dravet Syndrome Conference 2021. This international networking event, held in Madrid (ES) on September 24, 2021, provides an excellent opportunity to meet friends and colleagues, foster new relationships and collaborations, and develop strategies for efficient and productive scientific outcomes.
Scientists will share first-hand information about their most recent advances in AT and DS research. In addition, attendees will learn from and discuss with guest industry regulatory and clinical experts in product and clinical development. Overall, EDSAT 2021 is an ideal platform for exchange, where students, early career scientists, leading investigators, policy makers, pharmaceutical industry and other sectors in healthcare converge and collaborate for the common goal of promoting DS research and patient access to AT.
Applicants | Country |
Titulaer, Maarten Jan (Principal applicant) Dept Neurology, Erasmus University Medical Center | The Netherlands |
Massacesi, Luca Dept Neurosciences Drugs and Child Health, Florence University | Italy |
Gastaldi, Matteo Neuroimmunology laboratory/Neuroncology and Neuroinflammation Unit, IRCCS Mondino Foundation, Pavia | Italy |
Easton, Ava The Encephalitis Society | United Kingdom |
Graus, Francesc Dept. Neuroimmunology, Institut Recerca Biomèdica August Pi i Sunyer, Barcelona | Spain |
Erdag, Ece, Dept. Neuroscience, Aziz Sancar Institute of Experimental Medicine, Istanbul | Turkey |
Dalmau, Josep Dept. Neuroimmunology, Institut Recerca Biomèdica August Pi i Sunyer, Barcelona | Spain |
Honnorat, Jerome Dept. Neuro-oncology, University Claude Bernard, Lyon | France |
Leypoldt, Frank Dept. Neurology and Inst. of Laboratory Medicine, University Hospital-Schleswig-Holstein & Kiel University | Germany |
Tanasescu, Radu Dept. Neurology, Nottingham University Hospitals, University of Nottingham | United Kingdom |
Abstract
Autoimmune Encephalitis (AIE) are a group of severe, but treatable immune-mediated diseases of the brain. Although the frequency of each specific AIE is low, as a group these are less rare. As many types are only discovered over the last decade, it is increasingly recognized, but underdiagnosis is still likely. As AIE occur at all ages, admission is often long and consequences can be severe, it poses a high burden on the health care system. Recent diagnostic criteria for AIE have been proposed by an international, European-led team. This has improved clinical characterization and allowed earlier diagnosis and treatment. Early treatment is curative improving outcome, and preventing relapses. Due to the rarity of the separate AIE entities, randomized clinical trials are lacking. Expert opinion is based on case series. A task force (TF) of experts, endorsed by the European Academy of Neurology, is to create consensus on management of AIE. In extension to this guideline, the TF identified knowledge gaps.
In this conference, the TF is to be expanded to create a European network: TREAT AIE. Aims are standardization of data, sharing of databases, creating an European framework database, leading to fruitful research collaborations. This will lead to uniformity of cohort descriptions, enabling comparative research. Prospectively, this will enable randomized controlled trials. Altogether, this will improve diagnosis and treatment of patients with AIE in the whole of Europe. It will also reinforce European research at the front line in the field of rare neuroimmunological diseases.
Round 4 (Collection date March 2021)
Applicants | Country |
Scarcelli, Vincenza (Principal applicant) SCN8A Italia ODV | Italy |
Fazeli, Walid Dept Neuropediatrics, University Hospital Bonn | Germany |
Aras Portilla, Luis Miguel ApoyoDravet | Spain |
Gardella, Elena Danish Epilepsy Centre / University of Southern Denmark | Denmark |
Clay, Benjamin SCN8A UK and Ireland | United Kingdom |
Abstract
The first ever European SCN8A & SCN2A Conference takes place at the University of Bonn (10th-11th September 2021) with a full virtual alternative.
SCN8A and SCN2A related diseases are extremely rare, likely under diagnosed, neurodevelopmental disorders caused by variants to the SCN2A / SCN8A genes. Outcomes vary, but the disorders often cause severe epilepsy, intellectual disability, autism, movement disorder and risk of sudden unexpected death in epilepsy. While sharing similarities with better known Dravet Syndrome (SCN1A), SCN8A/2A are different and can require different treatment. Improved awareness and early diagnosis are key.
SCN2A & SCN8A also have differences, but as rare sodium-channel disorders there is commonality of research and expertise. Despite being newly discovered disorders momentum is now building with various strands of SCN8A/2A research, growing patient registries, prospective specific medication trials, gene therapy research and natural history studies.
The SCN8A and SCN2A patient network is also growing with families forming groups in respective European nations, with groups connecting across Europe and beyond. This increasingly visible patient network offers helps researchers access and further aids the growth of the patient registries.
At this critical time, the conference brings together specialist clinicians, researchers and patient advocates. This intersection of data, expertise and research will enhance insight into genotype/phenotype relationships, enrich knowledge of optimum therapies, and stimulate ideas for new research streams.
Applicants | Country |
Sabater, Lidia (Principal applicant) Dept. Neuroimmunology, Fundacio Clinic per a la Recerca Biomedica (FCRB) | Spain |
Gaig, Carles Dept. Neurology. Multidisciplinary sleep disorder Unit, Hospital Clínic de Barcelona | Spain |
Höftberger, Romana Dept Neurology, Medical University of Vienna | Austria |
Titulaer, Maarten Jan Dept Neurology, Erasmus University Medical Center, Rotterdam | The Netherlands |
Leypoldt, Frank Dept. Neurology & Inst. of Laboratory Medicine University Hospital-Schleswig-Holstein & Kiel University | Germany |
Dalmau, Josep Dept Neuroimmunology, Institut d’Investigacions Biomèdiques August Pi i Sunyer, Barcelona | Spain |
Iranzo, Alejandro Dept. Neurology. Multidisciplinary sleep disorder Unit, Hospital Clínic de Barcelona | Spain |
Graus, Francesc Dept Neuroimmunology, Institut d’Investigacions Biomèdiques August Pi i Sunyer, Barcelona | Spain |
Gelpí, Ellen Dept Neurology, Medical University of Vienna | Austria |
Marusič, Petr Dept Neurology, Charles University and Motol University Hospital, Prague | Czech Republic |
Abstract
The anti-IgLON5 disease is a rare neurological disease that can be life-threating. The patients are adults on their sixties and the main symptoms of the disease are sleep problems with apneas and gait imbalance. Other frequent symptoms are speech difficulties, breathing or swallowing problems, abnormal movements, dementia, muscular problems like cramps and weakness. At present we don’t know the cause of this disease or the mechanisms that are involved. As the disease is rare and was discovered only a few years ago there are a lot of things that are unknown. We believe that the disease begins when the human body’s defenses go wrong and attack normal parts of the brain. Patients with IgLON5 antibody disease slowly deteriorate and their symptoms can resemble those of a neurodegenerative disease such as Alzheimer’s, making the diagnosis difficult. In addition, the brains of patients with this disease at autopsies also resemble those of Alzheimer’s patients because we see that neurons are lost and there are abnormal accumulations of proteins. It is possible that the sooner patients are diagnosed and treated, the better they go and have a better prognosis. Our aim is to create a transnational consortium to study the disease and join the efforts of different centers in a collaborative way to exchange information about treatments and outcomes and also design experiments to know more about why and how this disease is produced.
Applicants | Country |
Kocic, Maja (Principal applicant) Lymphoma Patient Association LYPA | Serbia |
Petrova, Pirinka Bulgarian Lymphoma Association | Bulgaria |
Vincek, Drazen Croatian Leukaemia and Lymphoma Society | Croatia |
Abstract
There are more than 80 subtypes of lymphomas that have very different biology making this a complex group of rare cancers.Despite that, lymphoma has more standard and, in particular, more emerging, novel treatments than most other types of cancer, patients with lymphoma in Europe do not all receive the same high standard of treatment and care. There are wide variations in how and when treatments reach patients. The Balkan region is among the poorest areas in Europe. Balkan countries continue to make slow progress in modernising their health systems. Moreover, intra-regional distinctions are clear: while EU members Bulgaria and Croatia have access to EU structural funds, Serbia has made more moderate progress and has generally lagged behind.
Patients with lymphoma, regardless of which country they belong to, need to have access to accurate information on their specific subtype, their treatment options, including clinical trials, and to be involved in the decision-making process when determining the course of their treatments.
The main goal of the event is to examine the extent of the disparities from a multidimensional patient perspective. Access to new treatments and to clinical trials in the fast-moving lymphoma field are obvious factors to examine, but patients are also disempowered through lack of information and support that can greatly affect their access to care and quality of life. Consequently, access to adequate care, including therapies, clinical trials, personal support and information, is the primary topic of our event.
Round 5 (Collection date June 2021)
Applicants | Country |
Badnjarevic, Ivana (Principal applicant) Lil’ Brave One (Hrabrisa) | Serbia |
Opladen, Thomas Div. Child Neurology and Metabolic Medicine, University Hospital Heidelberg | Germany |
Stevanovic, Galina Dept Neurology, Clinic for Neurology and Psychiatry for Children and Youth, Belgrade | Serbia |
Garcia Cazorla, Angels Neurometabolism unit, Hospital San Juan de Deu in Barcelona | Spain |
Bertoldi, Mariarita Dept Neuroscience, Biomedicine and Movement Sciences, University of Verona | Italy |
Kulhanek, Jan Dept Pediatrics and Inherited Metabolic Disorders, Charles University and General University Hospital, Prague | Czech Republic |
Cinquemani, Claudio SSADH-Defizit | Germany |
Peñarrubia, Francisco De Neu Asociación de Enfermedades de los Neurotransmisores | Spain |
Yıldız, Yılmaz Dept Pediatric Metabolism, Hacettepe University, Ankara | Turkey |
Rossignoli, Giada Dept Developmental Neurosciences, Molecular Neurosciences, UCL ZCR COS Institute of Child Health, London
| United Kingdom |
Abstract
Neurotransmitter diseases are a group of rare genetic diseases with neurometabolic implications and a wide spectrum of clinical presentations. The term “neurotransmitters” subsumes different types of chemical messengers enabling brain function through neuronal communication. In 2013, the “International Working Group on Neurotransmitter Related Disorders (iNTD)” was established to coordinate scientific and clinical efforts since each single expert centre involves a limited number of patients.
The general aim of the present Networking event is, for the first time, to bring together clinical scientists, basic researchers and patient advocacy groups to enable an interdisciplinary exchange, thus, to promote health for patients affected with rare neurotransmitter related disorders. The network strengthening will be carried out thanks to mixed sessions, involving all partners, discussing together on the scientific advancements of research and diagnostic tools as well as on novel cell models that pave the way to new disease treatments and medical protocols. The outputs will provide research advancements, iNTD network expansion to further medical centres and patients, and bring knowledge for all participants, due to the unprecedent opportunity to exchange scientific and clinical expertise conjugated to patient experience.
In addition, the network event will reduce variation between (underrepresented) countries, support Early Career Researchers and empower patients, wherever they live, to access the necessary expertise and services in a more global and shared perspective.
Round 6 (Collection date September 2021)
Applicants | Country |
De Koning-Tijssen, Marina (Principal applicant) Dept. Neurology, University Medical Centre Groningen | The Netherlands |
Leuzzi, Vincenzo Dept. Human Neuroscience, Sapienza University, Rome | Italy |
Rubboli, Guido Inst.Clinical Medicine, University of Copenhagen | Denmark |
Anderson, David Dept. Neurology, Queen Elizabeth, University Hospital,University of Glasgow | United Kingdom |
Lehesjoki, Anna-Elina Samfundet Folkhälsan i svenska Finland rf and University of Helsinki | Finland |
Van Egmond, Martje Dept. Neurology, University Medical Centre Groningen | The Netherlands |
Galosi, Serena Dept. Human Neuroscience, Sapienza University, Rome | Italy |
De Koning, Tom Dept. Pediatrics, Lund University | Sweden |
Abstract
Progressive myoclonus ataxia (PMA) is a rare syndrome of the nervous system characterized by two different kinds of involuntary movements, namely myoclonus (unexpected muscle jerks) and ataxia (coordination difficulties). These abnormal movements with an onset in early childhood are in most patients accompanied by mild cognitive impairment and infrequent epilepsy. The disease course is progressive and can result in patients becoming wheelchair-bound in their second decade and, unfortunately, early death in their third or fourth decade. The cause of PMA mostly relies on a specific problem in the genes, which were only discovered recently. Currently, successful treatment of PMA is limited and mainly by means of anti-epileptic drugs. However, not all anti-epileptic drugs can be prescribed as some worsen the symptoms of PMA patients and do not satisfactorily suppress symptoms. This warrants the search for other treatment options. In a rare disease entity such as PMA, international collaboration is crucial. Therefore, we are organizing a face-to-face international networking event to bring together physicians, researchers, patient representatives, pharmacologists and policy makers involved in the field of PMA to bundle forces and create new insights together. The aim is to translate these insights into new research projects where we will work towards working towards a more rational, more optimal treatment of PMA. The two-day networking event consists of various workshops and live discussions. It will take place in Groningen, the Netherlands, and it is planned in December 2022.
Applicants | Country |
Ortigoza-Escobar, Juan Dario (Principal applicant) Dept. Pediatric Neurology, Hospital Sant Joan de Deu, Barcelona | Spain |
Panagiotakaki, Eleni Dept Paediatric Clinical Epileptology, Sleep and Neurophysiology, University Hospital Lyon | France |
Malenica, Maša Child neurology and epileptology, UHC Sestre milosrdnice, Zagreb | Croatia |
Arzimanoglou, Alexis University Hospitals of Lyon and Hospital Sant Joan de Déu, Barcelona, Spain | France |
Fons, Carmen Dept. Pediatric Neurology, Hospital Sant Joan de Deu, Barcelona | Spain |
Bibić, Irena Croatian Dravet syndrome | Croatia |
Silva, Susana Spanish GNAO1 association | Spain |
Tomassi, Massimiliano Famiglie GNAO1 APS | Italy |
Poncelin, Dominique Association Française de l’Hémiplégie Alternante (A.F.H.A.) | France |
Abstract
Pediatric rare neurological disorders are frequently unrecognized, resulting in a protracted delay in diagnosis and limited treatment options. Even when detected early, treatment remains mostly empirical, in part due to the limitations inherent in designing and conducting clinical trials: several of these disorders with similar clinical expressions are caused by a wide variety of affected genes, while therapy in one group of patients may not be applicable to all individuals with the same gene defect.
The primary goal of this networking event is to bring together clinicians and scientists from different EU and other countries, strongly involved in clinical and/or fundamental research in the fields of epilepsy and movement disorders. The event will examine the possibility of novel treatment approaches in light of recent developments in this field. Researchers will be offered the opportunity to construct new collaborations, debate on the development of precision medicine hypotheses and treatment trials to reach more patients across Europe. One of the workshop’s main draws is that it intends to address several of these uncommon neurological disorders concomitantly, encompassing both diagnostic and therapeutic issues. Bringing together senior and young academics, as well as patient advocacy organizations, will improve existing initiatives, stimulate new ones, and function as a catalyst for research in this sector. The event will be held in Barcelona, Spain during the 1st semester of 2022.
Applicants | Country |
McLin, Valérie (Principal applicant) Dept Pediatrics, Gynaecology and Obstetrics, University Hospitals Geneva, and University of Geneva | Switzerland |
Franchi-Abella, Stéphanie Dept. Pediatric Radiology, Hôpital Bicêtre | France |
Guérin, Florent Dept. Pediatric Surgery, Hôpital Bicêtre | France |
Pop, Tudor 2nd Pediatric Clinic, University of Medicine and Pharmacy, Cluj-Napoca | Romania |
Van der Doef, Hubert, Lab. Medical Genetics, UMC Groningen | The Netherlands |
Savale, Laurent Dept. Respiratory Medicine, Hôpital Bicêtre | France |
Plessier, Aurélie Centre de référence des maladies vasculaires du foie, Hepatology unit, Hôpital Beaujon, Clichy | France |
De Gottardi, Andrea Servizio di Gastroenterologia e Epatologia, Ente Ospedaliero Cantonale, Lugano | Switzerland |
Beghetti, Maurice Dept Pediatrics, Gynaecology and Obstetrics, University Hospitals Geneva, and University of Geneva | Switzerland |
Baiges, Anna Dept. Hepatology, Hospital Clínic de Barcelona | Spain |
Abstract
Congenital porto-systemic shunts (CPSS) are an anomaly of abdominal veins by which blood leaving the intestine bypassesthe liver. It is now understood that when the blood does not pass through the liver, such as in case of CPSS, severe complications can occur starting at a very young age. Although the prevalence of this rare malformation is not known, the following complications have been described both in children and adults: liver tumors, heart failure, vascular anomalies of the lung, developmental delay and more. Presently, it is not known which patients will develop complications. To this end, the International Registry for Congenital Portosystemic Shunts (IRCPSS) was created in 2016 with a view to achieve the following aims: i) understand who will develop complications, ii) identify the correct time and method to close the shunt(s), and iii) develop recommendations for the diagnosis, management and follow up of patients with this rare congenital malformation. To date 50 centers from 20 countries have pledged to join the IRCPSS. One of the idiosyncrasies of CPSS is the manifold presentations and therefore how awareness needs to span many medical specialties. Therefore, the aim of the proposed networking event to be held in Paris in March 2022, is to bring together current partners across all disciplines and other interested parties from Europe and the world to a) increase awareness and decrease time to diagnosis b) strengthen ties between partners to encourage ancillary projects and c) increase participation in the registry.
Applicants | Country |
Verhoeven, Peter (Principal applicant) Vasculitis International | The Netherlands |
Power, Julie Vasculitis Ireland Awareness | Ireland |
Mills, John Vasculitis UK | United Kingdom |
Christofidou, Maria The European Institute for Innovation Through Health Data (i-HD), Ghent University Hospital | Belgium |
Durante, Eugenia APACS – Associazione Pazienti Sindrome di Churg-Strauss | Italy |
Hrušková, Zdenka Dept. Nephrology, General University Hospital in Prague | Czech Republic |
Vella, Mary Arthritis and rheumatism Association | Malta |
Anastasa, Zoi Vasculitis UK | United Kingdom |
Abstract
This first International Vasculitis Patient Conference is a satellite back-to-back event of the International Vasculitis and ANCA Symposium 2022. This patient conference will turn the COVID 19 restrictions into an advantage by providing an ideal networking opportunity for researchers and HCPs to hear the patient voice, and for patients to engage with research activities and shape the research agenda. It represents a unique transnational collaboration between Patient Advocacy Organizations (PAOs), Early Career Scientists (ECR’s), Established Researchers, and Health Care Professionals (HCP’s) in the field of Vasculitis. Team members represent many different countries including usually underrepresented EU member states like the Czech Republic and Malta. The team has the full support of organisations like the European Reference Network Rare Immunodeficiency, Autoinflammatory, Autoimmune disorders and Paediatric Rheumatology- ERN RITA, the scientific group European Vasculitis Society – EUVAS , the organising committee of the main conference and other senior scientists and clinicians in the field of vasculitis. During this patient conference we will broadcast live sessions where ECR’s and Patient Representatives discuss current insights in research progress from both a scientific and patient perspective. Senior researchers will be asked to contribute to these discussions. We will subtitle these sessions in multiple languages, and they will be available freely to all member states at a later date on the Vasculitis International website.