Endo-ERN webinar: Update on congenital hyperinsulinism

On Tuesday July 6th at 16:00 – 17:00 CET an Endo-ERN webinar about “Update on congenital hyperinsulinism” will be given by Oliver Blankenstein, Peter Kühnen, Sebastian Kummer, Alena Welters and Thomas Meissner from Charité – Universitätsmedizin Berlin / Universitätsklinikum Düsseldorf.

Congenital hyperinsulinism is the most frequent cause of severe transient and persistent neonatal hypoglycemia. The etiology and the clinical course are highly variable. Today, we still find a high proportion of patients suffering from hypoglycemic brain damage. This update will focus on the rational approach to evaluation and management of a patient with suspected hyperinsulinism. Efforts to improve the neurological outcome need to focus on the initial management in the first days of life, even before the diagnosis of hyperinsulinism. The further management includes evaluation of clinical presentation as well as laboratory parameters, genetics, PET-scan and histology in those patients that need surgery. Finally, we will discuss new aspects of medical and surgical treatment.

Webinar summary

WebinarUpdate on congenital hyperinsulinism
DateJuly 6th, 2021
Time16:00 – 17:00 hr
SpeakersOliver Blankenstein
Peter Kühnen
Sebastian Kummer
Thomas Meissner
Alena Welters
RegistrationRegistration is closed

Resource Webinar: hPSCreg

As part of the EJP RD Resource Webinar series, the next webinar will be dedicated to hPSCreg and will be held on June 21st.

The human pluripotent stem cell registry (hPSCreg) maintains resources to track the usage of human embryonic and induced pluripotent stem cell lines from research to clinical applications. Participants will be given an overview of hPSCreg from different stakeholder perspectives (basic and translational researchers, industry, and funders) and will learn about what data is available for each registered line and the benefits of registering lines in hPSCreg.

Webinar summary

DateJune 21st, 2021
Time15:00 – 16:00 hr
SpeakerNancy Mah
OrganisationEJP RD
WebsiteVisit webinar website
RegistrationRegistration is closed


In the context of EJP RD’s ERN Workshops, a face-to-face workshop on clinical epidemiological research for ERNs titled “Clinical Research: The Basics & Beyond” (consisting of presentations by experts in the field of epidemiology and a feedback session on the research projects of participants) is being organised by Prof. Olaf Dekkers and Prof. Frits Rosendaal of the Leiden University Medical Center.

The in-person event will take place over two days on 30th September and 1st October 2021 at the Hotel Golden Tulip Leiden Centre, Schipholweg 3, 2316 XB Leiden, the Netherlands.

The workshop is open by prior registration and selection to medical specialists affiliated to an ERN Full Member or Affiliated Partner institution and who have a special interest in clinical research with databases. Registration closes on 18th June 2021, and those selected to participate from among the applicants will be informed by 9th July 2021 of their selection.

Workshop summary

DateSeptember 30th - October 1st, 2021
LocationHotel Golden Tulip Leiden Centre, Schipholweg 3, 2316 XB Leiden, The Netherlands
WebsiteVisit workshop website
RegistrationRegister for workshop

IFCAH Symposium

10 years CAH Research Support

IFCAH is pleased to welcome all patients, patient’s families, researchers and clinicians to share their very last findings on CAH, obtained thanks to 10 years of IFCAH support.

Symposium summary

SymposiumIFCAH Symposium
DateJune 14th, 2021
Time16:00 – 19:00 hr
WebsiteVisit symposium website
RegistrationRegistration is closed

EJP RD: ERN Workshops – Advances in diagnostic and therapeutic methods for lymph flow abnormalities. REGISTRATION DEADLINE: MAY 31st

A face-to-face workshop on Advances in Diagnostic and Therapeutic Methods for Lymph Flow Abnormalities (consisting of presentations by experts in the field of lymph flow and interactive sessions to train participants in performing and interpreting MR lymphangiography) is being organised by Dr Willemijn M. Klein on 9–10 September 2021, from 09.00 to 17.00 CET, in the auditorium of the Radboud University Medical Center, Nijmegen, the Netherlands. The workshop is open to medical specialists affiliated to an ERN Full Member or Affiliated Partner institution and who are involved in diagnosing or treating patients with lymph flow abnormalities. Registration closes on May 31st, and those selected to participate from among the applicants will be informed by June 30th of their selection.

More information: https://www.ejprarediseases.org/event/advances-in-diagnostic-and-therapeutic-methods-for-lymph-flow-abnormalities/

This entry was posted in General.

Kick-off meeting & 1st General Assembly of the European Rare Disease Research Coordination and Support Action – ERICA


On Thursday 27th May 2021 (from 10.00 – 16.45 h) & Friday 28th May 2021 (from 10.00 – 15.45 h) the kick-off meeting & 1st General Assembly of the European Rare Disease Research Coordination and Support Action (ERICA) will be held.

Funded under the EU research and innovation framework programme, the ERICA consortium, in which all 24 European Reference Networks (ERNs) take part, aims at building on the strength of the individual ERNs and create a platform that integrates all ERNs’ research and innovation capacity. Its overall aim is to create new intra- and inter-ERN rare disease competitive networks and establish effective data collection strategies. It will also explore ways to improve patient involvement and enhance the quality and impact of clinical trials.

The Endo-ERN will be represented in the ERICA Consortium by Alberto Pereira (also the coordinator of the project) and by at least one Endo-ERN representative, nominated for the each specific Expert Working Group.

Endo-ERN webinar: Clinical trials with new drugs in PWS

On Tuesday June 15th at 17:00 – 18:00 CET an Endo-ERN webinar about “Clinical trials with new drugs in PWS” will be given by prof. Maithé Tauber from CHU Toulouse, France.

Prader-Willi syndrome is a rare genetic neurodevelopmental disorder that results from the loss of gene expression of paternally inherited maternally imprinted genes of chromosome 15 at positions q11- q13. It is now admitted that the phenotype is explained by the impaired hypothalamic development and function which drives the developmental trajectory including nutritional, behavioural, endocrine and metabolic aspects. The nutritional trajectory is very specific with a paradoxical sequence that starts with poor feeding with failure to thrive and anorexia, and further switches to unexplained excessive weight gain followed by hyperphagia leading to early severe obesity. In 2000, GH has been approved by the European Medicines Agency (EMA) for treatment of children with PWS and is the only treatment approved in PWS. To date, there is no marketed treatment targeting feeding and behaviour problems that represent the major unmet clinical needs. Several clinical trials with various drugs targeting hyperphagia and obesity have been implemented in PWS recently. The webinar will focus on the clinical trials and discuss the outcome of the studies and safety.

Webinar summary

WebinarClinical trials with new drugs in PWS
DateJune 15th, 2021
Time17:00 – 18:00 hr
SpeakerMaithe Tauber
RegistrationRegistration is closed

Endo-ERN webinar: Clinical and genetic aspects of pheochromocytoma

On Monday June 14th at 15:00 – 16:00 CET an Endo-ERN webinar about “Clinical and genetic aspects of pheochromocytoma” will be given by Peter Igaz from Semmelweis University, Hungary.

Pheochromocytomas are rare, chromaffin cell-derived neuroendocrine tumors that show the highest heritability among all human tumors. Most pheochromocytomas (80 %) arise in the adrenal, but a significant proportion is located at extraadrenal sites (paraganglioma). Approximately 40 % of pheochromocytomas are associated with germ-line mutations in various susceptibility genes. Due to the hypersecretion of catecholamines, pheochromocytomas can result in severe cardiovascular complications and are associated with significant morbidity and mortality. Histological analysis of pheochromocytoma cannot establish its malignant behaviour and malignancy can only be diagnosed based on clinical criteria i.e. the presence of metastases. This Webinar focuses on the clinical management and genetic background of pheochromocytoma via the demonstration of different cases.

Webinar summary

WebinarClinical and genetic aspects of pheochromocytoma
DateJune 14th, 2021
Time15:00 – 16:00 hr
SpeakerPeter Igaz
RegistrationRegistration is closed