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.




EJP RD Advisory Committee for Therapeutics (ACT) workshop (ERN-focused event)

Organiser – Newcastle University  ONLINE  7th-8th July 2021  GENERAL INFORMATION The main objective of this workshop is to demonstrate the benefits of adopting the Advisory Committee for Therapeutics (ACT) model in rare disease communities, orientated around the European…

  • 14:00 - 15:00 (8 July 2021)
  • Online




Advances in diagnostic and therapeutic methods for lymph flow abnormalities

Organiser – Dr Willemijn M. Klein9th and 10th Sept 2021Nijmegen, the Netherlands GENERAL INFORMATION Intranodal MR lymphangiography is an imaging technique that allows for the central lymphatic vessels to be visualized. Lymph flow problems exist…

  • 09:00 - 17:00 (10 September 2021)
  • Auditorium, Radboud University Medical Center, Nijmegen, the Netherlands




Clinical Research with databases: The Basics & Beyond Workshop in clinical epidemiological research for ERNs

Organiser – Olaf Dekkers30 September – 1 October 2021Leiden, the Netherlands   GENERAL INFORMATION Research on rare conditions can be a great challenge, both practical and methodological. To counteract small study populations with a rare…

  • 14:00 - 15:00 (1 October 2021)
  • Hotel Golden Tulip Leiden Centre, Schipholweg 3, 2316 XB Leiden, The Netherlands

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.

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.