Read the February-March edition of the Endo-ERN newsletter now! It features a report on our third annual General Assembly, the first EndoRARE webinar, past meetings, and upcoming meetings! Continuar a ler
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.
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.
On Wednesday May 12th at 14:00 – 15:00 CET an Endo-ERN webinar about “Central congenital hypothyroidism; clinical characteristics and cognitive outcome in early detected patients” will be given by Nitash Zwaveling-Soonawala, Paul van Trotsenburg and Jolanda Naafs from Amsterdam-UMC, the Netherlands.
Central congenital hypothyroidism (CH) may occur in isolation, but in the majority of cases it is part of combined pituitary hormone deficiencies. The Netherlands has a longstanding neonatal screening program for central CH. Recently we studied the yield of 20 years of screening for central CH. In this webinar we will discuss the clinical and genetic characteristics of this large cohort of early detected central CH patients. In addition we will present the results of cognitive testing and health-related quality of life of these patients compared with healthy siblings.
|Webinar||Central congenital hypothyroidism; clinical characteristics and cognitive outcome in early detected patients|
|Data||Maio 12th, 2021|
|Time||14:00 – 15:00 hr|
|Speakers||Nitash Zwaveling-SoonawalaPaul van Trotsenburg|
Read more about the Endo-ERN General Assembly, upcoming webinars, Special supplemental issue on Rare Endocrine Conditions and much more.
On Monday April 19th at 17:00 – 18:00 CET an Endo-ERN webinar about “Development and integration of VBHC in pituitary care in an Endo-ERN reference center” is organised. The webinar will be held by Nienke Biermasz and Friso de Vries from Leiden University Medical Center, the Netherlands.
From 2016 onwards our team embraced a VBHC approach in pituitary care. In our multidisciplinary unit we enforced multidisciplinary working by combination clinics, shared specialist nurses covering perioperative care, a shared weekly clinical meeting, PDCA cycles and combined research projects and a multidisciplinary care path. Also Capital, a multidisciplinary workshop for pituitary specialists and nurses was introduced and three successful meetings with teams and a lot of sharing experiences were organized before the Covid-19 era.
Several projects were conducted: short track admissions for surgery combined with ehealth, introduction of functional imaging, a trial to compare surgery and medical treatment in prolactinoma, and advanced outcome measurements including patient reported and clinical outcome measurements. In this webinar we discuss the process of development of this unit which is of course work in progress. We are proud to be nominated for the value based health care prize 2021, as an example of VBHC in a rare and complex disease area.
|Webinar||Development and integration of VBHC in pituitary care in an Endo-ERN reference center|
|Data||Abril 19th, 2021|
|Time||17:00 – 18:00 hr|
Friso de Vries
On Wednesday May 26th at 16:00 – 17:00 CET
an Endo-ERN webinar about “Rare diabetes caused by endoplasmic reticulum stress: clinical features and novel patients’ stem cell-based models” will be given by Prof. Miriam Cnop from Cliniques universitaires de Bruxelles – Hôpital Erasme.
A dozen types of rare monogenic diabetes are caused by mutations that cause pancreatic beta cell endoplasmic reticulum stress. These forms of young-onset diabetes are often associated with microcephaly. We will review clinical features and discuss novel stem cell-based models to study these diseases. Patients’ induced pluripotent stem cell-derived beta cells provide the exciting opportunity to generate disease-in-a-dish and humanised mouse models, to study pathogenic mechanisms and test therapies.
|Webinar||Rare diabetes caused by endoplasmic reticulum stress – clinical features and novel patients’ stem cell-based models|
|Data||Maio 26th, 2021|
|Time||16:00 – 17:00 hr|
Read more about e-REC, Registry Drop-in sessions, New Members of the team, EuRR-Bone Meetings and much more.
The 8th International Disorders/Differences of Sex Development Symposium will be held as a webinar on Thursday 8th July – Friday 9th July 2021.
There will be Meet the Expert sessions, Topic-specific sessions and Project workshops that will provide a platform for discussing projects that currently use data from the Registries.
Registration is free and open to all.
|Webinar||8th International Disorders/Differences of Sex Development Symposium|
|Data||8 Julho - Julho 9th, 2021|
|Website||Visite o site webinar|
2021 will be marked by the vaccination programs against SARS-CoV-2. Currently, various Member States are setting priorities in the vaccination programs for specific groups of patients, including those with rare diseases. On the other hand, there are some rare disease patients for whom vaccination can be contraindicated.
As European Reference Networks (ERNs) are formed by experts in rare diseases, we asked all ERNs to provide their opinion on the priorities and contraindications for patients with a rare disease within their network. The results are summarized in this document and were discussed during the internal ERN-Coordinator group meeting of January 27th, 2021.
First of all, we advise that the general recommendations of the EMA regarding new medicines need to be followed. Unfortunately, the recommendations below will not be complete, and only apply to the adult population. Moreover, these recommendations are based on the expert opinion as evidence is lacking for the majority of rare diseases. When evidence is available this is mentioned in the statement.It is very important that evidence is gathered regarding rare disease patients in the vaccination program, even better will be to set up clinical trials.
This expert opinion-based document with recommendations for adults only, can be no more than a start with the ultimate goal to have a complete overview of recommendations within the years to come, and therefore will need very regular updates. Up to date positions will be available on the websites of many ERNs.
Read more about, Special supplemental issue on Rare Endocrine Conditions, ERN recommendations on COVID-19 vaccination for patients with rare diseases, upcoming/recorded webinars and much more.