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 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.

The 8th International Disorders/Differences of Sex Development Symposium will be held as a webinar on Thursday 8th July – Friday 9th July 2021.

The programme is available on the I-DSD website.

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.