The 62nd Annual European Society for Paediatric Endocrinology (ESPE) will take place 16-18 November in Liverpool, England.
The Endo-ERN project office will attend and host a booth and a symposium. If your institution is a member and you are attending ESPE please complete this survey.
Endo-ERN symposium Sunday, 17 November 1430-1600
Location: Hall 3
Chaired by Olaf Hiort, Universitätsklinikum Schleswig-Holstein, Lubeck, Germany
Future of Registers for Rare Disease: the example e-REC, Erica van den Akker, Erasmus MC Children’s Hospital, Rotterdam, the Netherlands
Genetic testing in DSD or rare forms of adrenal insufficiency– what is the relevance [...]
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The Joint Action on Integration of ERNs into National Healthcare Systems (JARDIN) project has put out their first Bullet Point Newsletter. JARDIN is a huge and complex project that is met with very high expectations from EC and members. Check it out!
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The Cross-Border Access to Paediatric Clinical Trials Working Group (WG) created by the European Network of Paediatric Research at the European Medicines Agency (Enpr-EMA) is collecting data. The aim of this WG is to facilitate the inclusion of children and young people in clinical trials across Europe avoiding any language barriers. Recently we have identified that some patients could not take part in a clinical trial because they do not speak the official language of the country where the trial is performed or English.
Enpr-EMA is currently collecting data from Clinical Research Units and, also from parents of children living [...]
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EURORDIS recently published the results of their full Rare Barometer survey which can be found here. The key findings are available in multiple languages.
Key findings include:
4.7 years for a confirmed diagnosis 40% have NOT been referred to a Centre of Expertise 25% had 8 consultations or more with healthcare professionals before their diagnosis was confirmed
EURORDIS also provided a breakdown of the responses related to rare endocrine conditions.
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Just published Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations .
Four European Reference Networks (ERN-EYE, ERKNet, Endo-ERN, ERN-ITHACA) have teamed up to establish a consensus statement and recommendations for Bardet-Biedl syndrome (BBS) providing guidance for the relevant experts.
“This consensus statement also emphasizes on initial diagnosis, monitoring and lifelong follow-up, and symptomatic care that can be provided to patients and family members according to the involved care professionals.”
The guideline is relevant for Endo-ERN MTGs 3, 5, 6.
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Register now for this upcoming Endo-ERN webinar.
Genetic obesity is associated with difficulties in the regulation of appetite and satiety, often resulting in behavioural difficulties around food and consequent severe obesity. GLP-1 agonists affect appetite and satiety and may benefit these patients. In this webinar, the role of GLP-1 agonists in genetic obesity conditions such as Bardet Biedl, Alström and Prader-Willi syndromes will be discussed, and the impact of behaviour on the patient and carers will be explored.
Chaired by MTG5 Chairs Charlotte Höybye, Adult chair, Karolinska University Hospital, Sweden & Susan O’Connell, Paediatric chair, Children’s Health [...]
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Register now for this upcoming webinar organised by Endo-ERN’s MTG3.
Wednesday 9 October at 16:00-17:00 CEST
SWEET: the role of a worldwide registry to investigate rare diabetes
Chaired by: Felix Reschke, Hannoversche Kinderheilanstalt, Diabetes Center for Children and Adolescents, Hannover, Germany
Speaker:
Thomas Danne, Nova Medical School, Lisboa, Portugal & Breakthrough T1D, New York
After attending the webinar attendees will have a greater understanding of the SWEET registry and specialist network and the work that they do. This is a valuable resource for clinicians managing paediatric rare diabetes cases.
Accreditation statement
The SWEET- the role [...]
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Endo-ERN ePAG Bernd Rosenbichler shared a recent event organised by a local representative that featured his talented son Ben.
“Erich Irlstorfer, member of the German Bundestag, took up the topic of rare diseases almost 1.5 years ago – as a non-partisan initiative. He organized over 60 events with several thousand participants on the topic of Rare in Bavaria. He is in talks with European politicians to give the topic even more space. Other German states are following and also taking action. He brings his experiences and demands to the German Bundestag and to the political committees.
On July 13, he [...]
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The Joint Action on Integration of ERNs into National Healthcare Systems (JARDIN) project has put out their first Bullet Point Newsletter. JARDIN is a huge and complex project that is met with very high expectations from the EC and member states. Check it out!
Continue reading →
The Endo-ERN covers under its umbrella a broad range of endocrine disorders, and a significant number of these entities are caused by genetic variants. The underlying disorders are commonly rare and research, diagnostic testing and treatment are fragmented. Clinically, the disorders covered by Endo-ERN are heterogeneous, as are their genetic basis.
However, the genetic mechanisms behind the disorders as well as the genetic testing strategies are very similar. The last years have seen considerable improvement of genetic testing and – as a consequence – of the development and implementation of personalized treatment strategies.
The need to implement and run [...]
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