EJP RD Funded ERN Training Workshops

The “Research Training Workshop” Call aims 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 by EJP RD for the organization of a 2-days workshop for approximately 20 participants. 
Training themes may include innovative research methodologies, diagnostic research methodologies, interdisciplinary treatment approaches, such as gene therapy and transplantation, etc. Topics have to be proposed by the ERNs or by investigators belonging to EJP RD beneficiary institutions. 

Due to COVID-19 outbreak all ERN workshops are postponed. Their starting date will be announced as soon as they are available.

More information & registration here.

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 forTherapeutics (TACT) model in other rare diseases. The workshop is targeted to ERN coordinators (orarepresentativefrom each ERN research working group or similar).  

The TACT was created to address critical unmet needs on the optimization and the streamline drug developmenin neuromuscular diseases. Since its establishment in 2009almost 60 applications have reviewed for advice, in 13 different neuromuscular diseases. Based on its success and given the large number of rare diseases andheterogeneityof the conditions, the thematic ERN groupings provide a logical framework for establishing ACTs in other rare diseases and highly specialized domains. 

The proposed workshopwill communicate the benefits of creating an ACTto ERN representatives and share the lessons learnedfrom the TACT model. In addition, it will deliver practical demonstration of a ‘mock’ review (pre-submission grant review), to show how the multi-disciplinary panel works and provide recommendationsA 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 stepsidentify new possible collaborations inter– and intra-disease domains, etc. –. At the end of the workshop, all participants will have gained a comprehensive understanding ofthe ACTmodel and have benefited by applying the lessons learned in their diseaseareas.  

Ectodermal dysplasias (EDs) are genetic conditions affecting the development and/or homeostasis of two or more ectodermal derivatives, including hair, teeth, nails, and certain glands. They represent 97 rare diseases that are frequently misdiagnosed excluding the main form. Recent advances in clinical diagnosis (new features, new classification) and management (innovative and curative treatment for some manifestations) should be shared. Their multidisciplinary management involves pediatricians, ENT specialists, dentists, dermatologists, ophthalmologists.
Training session for non-expert caregivers and physicians are organized on Friday June 10th 2022 during the 8th international conference on ED in Paris, France.

The workshop will be organised by Giovanni Mosiello , MD, FEAPU, FEBPS, Bambino Gesu Pediatric and Research Hospital, Rome , Italy Department of Urology: Neuro-Urology and Andrea Manunta, MD, FRCS, FEBU , Department of Urology and Neuro-Urology. Centre Hospitalier Universitaire de Rennes,  EUROGEN and ITHACA  EJP RD beneficiary.

Spina Bifida (SB) is a congenital malformation syndrome that requires multidisciplinary expertise.The trans ERN Spina Bifida Workgroup has been created for producing care documents and guidelines for all ERNs involved with the main aim of harmonization of clinical practices for SB patients with EU-wide transnational recommendations for all people with SB. The Workshop will examine how to consider innovative diagnostic tools, new treatments and address future research.

The objectives of this 2 days workshop are to train researchers and clinicians from different ERNs on:

  • Genetic neural tube defects, correlation with Orphacode and post natal outcome
  • TRASCET: transamniotic stem cell therapy
  • Prenatal diagnosis correlating fetal MRI and Ultrasound, with post natal outcome
  • Urinary marker on renal and bladder function
  • Fetal Surgery (different approaches), results on bladder function etc
  • Innovative urodynamic investigation on neurogenic bladder related to spina bifida (Radiomics)
  • Long-term sequelae of continence treatment considering the specific spina bifida patient.

Patient’s represantives will be present during the presentation and discussion of every single topic in order to lead future research considering the special needs of spina bifida patients, their expectations, and then helping researchers to define the correct modalities for research.

ERNs ITHACA, EUROGEN, ERKnet are the main beneficiaries.  The workshop is aimed at researchers

and clinicians involved in spina bifida management: neurologist, neurosurgeon, obstretician, neonatologist, urologist, pediatric urologist, fetal and pediatric surgeon, nephrologist, genetician, epidemiologist, immunologist, etc.

The workshop is open to all ERN researchers: junior or senior researcher or clinician. Junior researchers should be well motivated, involved in an ERN, very active in research and transERN activities are warmly welcome as well as senior clinical researchers (Team Coordinator).

The workshop will consist of both presentations by experts, as well as hands-on sessions, discussing clinical cases or theoretical cross-ERN scientific studies or projects, all of which will train participants and gain practical insights. At the end of the workshop all participants will have gained more knowledge on new promising diagnostic procedures, new treatments defining their feasibility, safety and efficacy for spina bifida patients with a view to developing a trans-ERN multicentric clinical trial based in Europe, according to EU rules respcting ethical and legal requirements, in order to make research findable, accesible, interoperable and reusable for all.

Endocrine cancer is a term joining together thyroid cancer, pituitary cancer, parathyroid cancer, adrenal cancer, and malignant paragangliomas/pheochromocytomas.
Each of these malignancies fulfills the criteria of a rare disease. While, regarding adults, clinical guidelines are available, there are no recommendations dedicated to pediatric patients. Moreover, it is not evident whether the guidelines for adults could be adapted in children.
The workshop aims to exchange the experience between recognized experts in the field and researchers. Such a discussion on rare diseases may result in the expansion of up-to-date knowledge, work up the evidence-based diagnostic and therapeutic strategies, and provide a background for national guidelines.
Training objectives aim to discuss the current knowledge, based on EBM criteria (where we are now?), present trends in diagnostic and treatment (what is new?), differences in management in adults and children, molecular background the diseases (possibilities of the personalized approach) and multidisciplinary management.
Simultaneously, the event will start closer cooperation and international contacts between different specialists in the field, including endocrinologists, oncologists, surgeons, radiotherapists, internists, pediatricians, pathologists, and radiologists, geneticists, and nuclear medicine specialists.

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 skillsconnected 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. Thereforethis 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. 

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 diseasesas 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 researchtaking 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 projectsHowever, 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 usecases 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.