Updated June 17
Our colleagues from the European Registries for Rare Endocrine and Bone Conditions (EuRREB) will host a webinar on Friday, 27 June at 1600-1700.
Topics are:
Update on the registries’ activity and latest developments – Ana Priego, EuRREB quality manager, LUMC, Leiden, the Netherlands.
Rare disease research and EuRREB – Loren van der Hoeven, PhD candidate at Amsterdam UMC, Amsterdam, the Netherlands and Savi Shishkov, adult endocrinologist at UMHAT “St. Marina”, Varna, Bulgaria.
The 7th edition of the TALENT (Transition Adolescence and young aduLts – Endocrine diseases managemenT) conference took place on February 11-12, 2025, at the “Roma Eventi” congress center in Rome, Piazza della Pilotta 5. The event, officially endorsed by Endo-ERN, welcomed approximately 200 participants, including leading international experts in rare endocrine diseases.
A unique and longstanding feature of TALENT, present since its first edition, is its strong editorial activity, with dedicated working groups composed of both young and senior experts. These groups convene before the start of each conference to develop high-quality scientific papers focused on the key challenges [...]
Congratulations to Johan de Graaf and Petra Bruegmann for their recent win of the Eurordis 2025 Patient Partnership Good Practice Challenge! The aim of this initiative is to recogise outstanding examples of collaboration between patient representative and healthcare professionals within European Reference Networks (ERNs). This initiative has spotlighted innovative practices that enhance patient engagement and foster valuable partnerships between patients and healthcare professionals across the Networks, improving healthcare for people living with a rare or complex condition.
Johan and Petra are leading an initiative that aims to provide some light by mapping inequities in endocrine drug provision across Europe. The [...]
Endo-ERN ePAG, Nathalie Ferard represents Association GRANDIR and has kindly provided an update newsletter on the many activities and resources available from the organisation.
Activities/resources include:
participation at national and international medical meetings family videoconference meetings to discuss growth hormone issues podcast on injection ritual to help reduce potential anxiety (French) supporting Miss Small Beauty competition
To mark Rare Disease Day, the European Commission published several resources celebrating the dedication and expertise of the European Reference Networks that make a tangible difference to the lives of patients with rare diseases and their families. Check them out below!
EU delivering on rare diseases for patients and families
How the European Commission works for Rare Diseases and the European Reference Networks (ERNs)
European Reference Networks: A success story for patients living with rare disease
New evidence-based guidelines were recently published. Topics covered include:
Diagnosis of XLH Initial evaluation of the presence and severity of complications of |X-linked hypophosphaeaemia Definitions of responses to therapy in patients with X-linked hypophosphataemia Recommendations for follow-up of patients with X-linked hypophosphataemia Treatment of children and adult with X-linked hypophosphataemia Recommendations for management of burosumab in children Recommendations for management of oral phosphate and active vitamin D in children Recommendations for the prevention and managment of hyperparathyroidism Recommendations for recombinant human growth hormone Recommendations for musculoskeletal treatment Recommendations for managment of pregnant or lactating patients Recommendations for [...]
Endo-ERN is delighted to be a partner of The World Orphan Drug Congress Europe. This event is the largest and most established orphan drug & rare disease event worldwide. Meet over 2000 attendees, hear from 250 leading speakers, and connect with 130 exhibitors as we bring together experts from the start-to-finish of orphan drugs. From regulation and policy, to global pricing and gene therapy.
With this partnership we are delighted to inform you that Endo-ERN members are eligible for a free VIP pass. You can apply now.
The agenda is now available for download [...]
Another #raredisease webinar from Endo-ERN! Planned for Tuesday, 3, June 16:00-18:00. Register now and if you are unable to attend live you will receive a recording.
Congenital Adrenal Hyperplasia (CAH): Current guidelines and monitoring
Erica van den Akker and Sjoerd van den Berg (Rotterdam, The Netherlands)
Leukocyte Telomere Length in Children with Congenital Adrenal Hyperplasia
Ozair Abawi (Rotterdam, The Netherlands)
Predicting Treatment Outcome in CAH Using Urine Steroidomics and AI
Christa Flueck (Bern, Switzerland)
The effect of oral contraceptives in female adolescents with 21-hydroxylase deficiency: A prospective observational study
Claudia Boettcher (Bern, Switzerland)
