Networking Support Scheme : Funded Networking Events

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.

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.

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.

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.

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).