In February 2020 the EJP RD launched its first “European Reference Networks (ERNs) Training and support program” as part of the ‘Training and Empowerment’ activities that aim to fill the gap in education on rare diseases research.
The “Research Training Workshop” call is aimed at identifying workshop topics to train ERN researchers and clinicians in relevant innovative themes with a cross-ERN added value. Selected applicants will receive financial support for the organization of a 2-days workshop for 20 participants.
Training themes include innovative research methodologies, diagnostic research methodologies, interdisciplinary treatment approaches, such as gene therapy and transplantation, etc. Topics have been proposed by the ERNs or by investigators belongining to EJP RD beneficiary institutions.
The first round of submission and evaluation have been finalized in March. As a result, three workshops were recommended for funding (listed below). The workshops will take place in the upcoming months. The information on their launch and more details will be provided and updated on the EJP RD website.
Launching Advisory Committees for Therapeutics (ACT) in rare diseases.
Joanne Lee, Newcastle University, UK – EJP RD beneficiary.
The aim of this workshop is to raise awareness and build capacity of ERNs in replicating the TREAT-NMD Advisory Committee for Therapeutics (TACT) model in other rare diseases. The workshop is targeted to ERN coordinators (or a representative from each ERN research working group or similar).
The TACT was created to address critical unmet needs on the optimization and the streamline drug development in neuromuscular diseases. Since its establishment in 2009, almost 60 applications have reviewed for advice, in 13 different neuromuscular diseases. Based on its success and given the large number of rare diseases and heterogeneity of the conditions, the thematic ERN groupings provide a logical framework for establishing ACTs in other rare diseases and highly specialized domains.
The proposed workshop will communicate the benefits of creating an ACT to ERN representatives and share the lessons learned from the TACT model. In addition, it will deliver a practical demonstration of a ‘mock’ review (pre-submission grant review), to show how the multi-disciplinary panel works and provide recommendations. A forum for participants engaging with TACT reviewers will be established to gain other practical insights. Moreover, the ERNs will be encouraged to scope-out opportunities in adopting an ACT within their network’s disease area – e.g. explore the practical steps, identify new possible collaborations inter– and intra-disease domains, etc. –. At the end of the workshop, all participants will have gained a comprehensive understanding of the ACT model and have benefited by applying the lessons learned in their disease areas.
Intranodal Magnetic Resonance Lymphangiography Studies Workshop.
Willemijn M. Klein, Radboud University Medical Center Nijmegen, The Netherlands. VASCERN – EJP RD beneficiary.
The aim of this workshop is to learn how to perform and interpret intranodal magnetic resonance (MR) lymphangiography findings, as well as to stimulate the initiation of joined scientific studies involving this technique. The workshop is targeted to senior clinicians with senior research skills, connected to one of the ERNs concerned by diseases that lead to lymph flow problems.
Intranodal MR lymphangiography is an imaging technique that allows for the lymph nodes and lymphatic vessels to be visualized. Lymph flow problems exist in many rare diseases, particularly in vascular malformations (such as lymphatic malformations), and in primary lymphedema and its associated syndromes (such as Noonan syndrome). Consequently, the potential applications of this technique are of interest to other ERNs that cover diseases with a known or potential lymphatic component in their pathophysiology. In VASCERN, at least 2 working groups cover diseases that cause a problem in lymph flow. In addition, Noonan syndrome is in the area of expertise of ERN-ITHACA. Therefore, this workshop will offer the opportunity to further strength cross-ERN collaboration and establish new ones for the study of lymph flow problems.
The workshop will consist of both presentations by experts in the field of lymph flow as well as hands-on sessions to train participants in performing and interpreting MR lymphangiography. Suggestions for cross-ERN scientific studies will be discussed and start-ups will be encouraged during the event.
Methods to study rare diseases, their causes and treatments: The Basics & Beyond.
Olaf Dekkers. Leiden University Medical Center (LUMC), The Netherlands. Endo-ERN – EJP RD beneficiary.
The aim of this workshop is to provide methological knowledge regarding several relevant topics around rare diseases, such as identify the difference between etiologic and prognostic studies, gain basic understanding of randomized studies and novel methods for trials in rare diseases, as well as characterize potentials and challenges of research in large databases. In addition to those, propensity scores, times dependent analysis, misclassification/missing data will be presented to promote interactive discussions around practical ERN examples research, taking both clinical trials and observational data. The workshop is suited for all ERN researchers – PhD students, junior and senior clinical researchers –.
The EJP RD survey investigating the needs of ERNs demonstrated a knowledge gap of different methodological aspects of clinical trials (CTs). Certain issues assumed to be evident for researchers performing regularly CTs could not be tackled by many researchers that are less familiar to this process. The survey also underlined that most researchers aimed to incorporate observational data or historical controls in their projects. However, it is well-known that handling and analyzing large databases require cutting edge methodological skills to obtain valid research. The workshop will facilitate a proper understanding of different aspects of CTs, including novel methods for rare diseases trials and for challenges when studying their causes or treatments in large databases.
The workshop foreseen front lectures and interactive sessions with practical studies on use–cases from the ERNs to facilitate the learning process. The final goal is to equip ERN researchers with appropriate methodological skills to critically analyze clinical trials and large databases. Increased knowledge and understanding of clinical epidemiological research will enable the participation and collaboration of more ERN researchers to well-designed clinical trials both inter– and intra- ERN network.