Networking Support Scheme : Funded Networking Events

Abstract

In 2011, PHA Europe initiated a roundtable discussion with the involvement of all the stakeholders from the globe in the field of pulmonary hypertension, which resulted in the Call to Action on the Unmet needs of Patients with Pulmonary Hypertension in 2012.

Ten years have lapsed since the launch of this paper in the European Parliament, so it was high time to

1. look back to assess the achievements and revisit the call to action to map out what is still ahead of us
2. discuss which parts of the paper need to be re-drafted in light of the political and scientific developments since, and
3. which fields are in need of more attention and allocation of added efforts and resources?

The planned networking event is the closing event of the re-assessment process of the call to action and the official re-launch of the revised paper in the European Parliament with the involvement of representatives from the patient associations and medical field, European level policy makers, representatives from pharmaceutical companies and other stakeholders.

Abstract

Autoimmune hepatitis (AIH) is a lifelong liver disease characterized by inflammation resulting in substantial complaints or even death with many unanswered clinical and research questions. The AIH research workshop is initiated to resolve these issues and will focus on three important unresolved aspects of AIH:

1. Pathogenesis and immunoregulation (Getting the diagnosis),
2. Novel immunotherapeutic approaches (Getting the best treatment) and
3. Quality of life.

Next to future orientated presentations held by experienced researchers from throughout Europe, parallel workshops will be organized to tackle topics based on clinical unmet needs and patients will speak about their patient journey, unmet needs and quality of life. We plan to have patients from Western and Eastern European countries. This workshop will be a collaboration between the ERN RARE-LIVER and the International AIH Group (IAIHG). We will invite physicians (adult and pediatrician), basic/clinical researchers, pathologists, immunologists, patient and representatives. This face-to-face workshop will be organized 3rd and 4th of June 2022 in Maastricht, the Netherlands. This workshop will bring together all expertise and patients journeys from Western and Eastern Europa to identify the most important gaps, make the best use from all disciplines and create a coordinated structure to bring AIH care to a higher level. In addition, it will lay the groundwork for new high level research networks that will aim for additional applications within the three aforementioned topics.

Abstract

Transition is defined as the gradual and planned shift from paediatric to adult care. The transition of patients with rare liver disease is often suboptimal, resulting in poor health outcome and a considerable loss-to-follow-up. To our knowledge, transitional care in rare liver disease is poorly understood and investigated compared to chronic kidney disease, organ transplantation or cystic fibrosis. Based on a survey circulated to stakeholders in Europe, we identified gaps and barriers on the implementation of transitional care in patients with rare liver disease. We apply for this funding to organize a workshop, that will result in a plan of action to improve age-appropriate and transitional care in patients with rare liver disease. All following stakeholders will be actively engaged in the organisation and participation: (i) paediatric and adult physicians, (ii) transition specialists (nurses, coordinators, researchers), (iii) patients, parents and PAO’s, and (iv) psychologists. The stakeholders will participate into a constructive brainstorm addressing the psycho-social and organisational barriers, and definition of best outcome parameters. The brainstorm-sessions will be concluded with a step-by-step process to deliver a plan of action that is applicable throughout Europe. Other deliverables are: (i) the development of self-management support tools and improvement of patient participation, (ii) a consensus on best outcome parameters, (iii) a definition of the needs for further educational programs, and (iv) a framework for a cross-ERN event on transition.

Abstract

Inherited arrhythmia syndromes are a group of rare genetic diseases that lead to sudden cardiac death in young people. By identifying the genetic variants that underlie these conditions, we can identify those individuals at risk of developing potentially fatal arrhythmias, for example family members (siblings, children etc.) of patients already diagnosed with arrhythmia syndromes. At-risk individuals can then avail of clinical monitoring (e.g. ECG tests) and potentially early prophylactic treatment if deemed to be at high risk.

While much progress has been made in the last 20-30 years to identify the genetic factors that cause these conditions, it is now recognised that a more complex range of genetic factors often underlies the risk of developing these conditions and the potentially fatal cardiac events. By improving our understanding of these factors, we will be able to more accurately predict the risk in patients, their family members and eventually the population at large. This will enable more accurate diagnosis and more focused clinical interventions, with the aim to reduce the incidence of sudden cardiac death from these conditions.

Because these are relatively rare diseases, collaboration across different research centres, hospitals and countries is essential in order to design research studies at the scale necessary to make new genetic discoveries. This networking event will build upon existing collaborations and foster new partnerships between many of the leading researchers and research centres in this field.

Abstract

Neuroblastoma (NB) is a rare cancer and the most common extracranial solid tumor of childhood diagnosed in the first year of life. For high-risk patients, long-term survival is barely 50% despite surgery and chemotherapy. Importantly, more than 40% of children suffer drug resistance and tumor relapse during or after treatment. Thus, researchers and clinicians continue searching for innovative therapies for patients with NB despite the progress made.

This networking event brings together experts from different fields but with the same objective- to join forces to fight NB and accelerate new treatments discovery. To this end, the main aim of the networking event is to share knowledge on NB between physicians, researchers, and members of patient advocacy organizations, and build up a research consortium to actively participate in the Europe’s Beating Cancer Plan.

The symposium will be held at the Sant Joan de Deu Hospital in the greater Barcelona area (Spain); it will be carried out in four sessions to discuss new advancements in NB characterization and modeling, cutting-edge technologies, and current strategies for NB therapy. In addition, the network event will serve to bring knowledge for all participants, build up new research networks, and disseminate the event conclusions to the general public, thanks to the support of the Association of Families and Friends of Children with Neuroblastoma (NEN). Finally, the symposium encourages the participation of Early Career Researchers and enables involvement in the network of usually underrepresented countries in Europe.

Abstract

Laminin-a2 Muscular Dystrophy (LAMA2-MD), the congenital form known as Merosin-Deficient Congenital Dystrophy Type 1A (MDC1A), is a neuromuscular dystrophy that affects 1-4 in every 100,000 individuals. The disorder, for which no cure is available, causes muscle weakness and wasting, together with joint contractures and nervous system involvement. A variety of pathogenic variants in the LAMA2 gene leads to either a complete or partial deficiency of laminin-a2, with, respective, severe and mild clinical manifestation. LAMA2-MD is ultra-rare, diagnosis is difficult and clinical expression is heterogeneous, requiring international collaboration.

The organizing consortium of the networking event consists of the main clinical and research groups and patient organizations in the EU, but key participants will be invited from all over the world. The outcomes will be disseminated to all European and affiliated countries.

The first day of the 3-day event will focus on patient registries and ongoing natural history studies to align them and define biomarkers and guidelines which can be used in patient-care. The second day, in which the patient is central, will focus on defining diagnostic criteria and guidelines for alleviating symptoms and maintaining quality of life. These will be distributed among patients, patient organizations and clinicians throughout Europe. On the third day therapy development for LAMA2-MD will be central by making an inventory of available patient samples for research, sharing confidential research progress and establishing a LAMA2-MD therapy task-force.

Abstract

In 2020 a European consortium on Phelan-McDermid syndrome (PMS) started to write a best practice clinical guideline supported by the European Reference Network on neurodevelopmental disorders ERN-ITHACA. The consortium consists of over 70 members, representing 15 European countries and including 11 patient representatives. The group had their first online meeting in October 2020 and currently the guideline is nearing its completion. While working on the guideline, knowledge gaps were identified as well as the need for a European database enabling the collection of more data on the natural history of PMS, especially on the often observed mental health problems. The consortium now feels the need to meet face-to-face in order to discuss the guideline recommendations and to strengthen the collaboration in order to tackle the knowledge gaps that we identified, as well as to discuss how best to proceed with the database. Most importantly, we are looking forward to discussions with our patient representatives who are invited to present their views early in the meeting programme.

The meeting will be hosted in June 2022, by the centre of expertise for PMS of the UMC Groningen, Netherlands, and the outcomes of the meeting will be:

• a strong collaboration between different European research groups and centres of expertise for Phelan-McDermid syndrome
• insight in the needs of the patient representatives and strengthen their participation in research
• a priority list of knowledge gaps that need to be studied
• consensus on the variables to be collected in the European PMS database.

Abstract

Beckwith-Wiedemann Syndrome (BWS) is a congenital syndrome of cellular overgrowth, causing about thirty different symptoms including a greater predisposition to the development of embryonic tumors affecting internal organs, hypertrophy, and macroglossia. There are no pharmacological therapies to cure it.

The 1st International Congress on BWS will be held from 2 to 5 June 2022 and will be available in hybrid mode, live in Cervia (Italy), and in online streaming.

The event is organized by several PAO in collaboration with doctors and researchers; the goal is to spread new knowledge on some specific aspects and implement the international network of families, caregivers, doctors, and researchers.

There will be two focuses: from the research point of view, five topics will be treated by sharing the preliminary and definitive results of various studies and data collections; from the point of view of dissemination, the specialists will train families starting from the basic notions up to the future perspectives. In the working sessions, dedicated exclusively to experts, the following topics will be covered: heterometry of the lower limbs, treatments in macroglossia, screening strategies for hepatoblastoma, reflections on the psychological dimension of living with BWS, limits of prenatal diagnosis, data collection for adults with BWS.

Abstract

Cutis laxa (CL) syndromes combine a large group of heritable disorders characterized by a loose, redundant skin. The many entities differ in systemic manifestations affecting the lung, heart and blood vessels, urinary tract, bowel, eye, skeleton, and neurological systems. Due to the extreme rarity, clinical knowledge on CL is limited and scattered in case reports and patients often lack correct information and disease management. Exchange of knowledge is of utmost importance for clinical care and for identifying unrecognized manifestations, including psychological and musculoskeletal burdens. Hence, a coordinated clinical research approach, instead of separate research endeavours by different research groups is required.

We will organize a hybrid international networking event at Ghent University, Belgium, in September 2022. We will bring together affected individuals and their care givers, physicians, paramedics and researchers. A clinic day (Sept 14, 2022) will allow patient participation in research. Focus groups will identify major disease burdens, patient needs and expectations, will allow for exchange of experiences and coping strategies, and establish a basis for patient centred research approaches. A conference day (Sept 15, 2022) will provide a state-of-the-art on CL and create interaction between stakeholders. A research day (Sept 16, 2022) will gather all stakeholders to coordinate and plan international research endeavours. We expect this conference to provide a global patient centred approach to advance awareness, care and research in CL.

Abstract

The Story of AHC: the past, the present and the future: Celebrating 10 years since the discovery of the ATP1A3 disease and developing goals for the next ten years for AHC and ATP1A3 research.

In 2022 it is 10 years since the discovery of the ATP1A3 gene. This was a scientific breakthrough in understanding the underlying cause of Alternating Hemiplegia of Childhood. This discovery involved an international collaboration between researchers, clinicians and families living with the condition. Since the discovery, more conditions within the spectrum of ATP1A3 gene diseases have been discovered.

AHC and ATP1A3 diseases are ultra-rare neuro-developmental lifelong conditions. They present with many neurological symptoms and can affect other parts of the body too. All code for a faulty cell membrane pump affecting the movement of sodium and potassium. Understanding all the ATP1A3 diseases can help progress research and improve the lives of those living with these painful and debilitating conditions.

The knowledge of AHC and ATP1A3 diseases have grown substantially over the last ten years, however, there sadly remains no effective treatment for this condition. This conference aims to bring together researchers, clinicians, and families to discuss current research and drive forward goals in research for the next ten years.