Congenital combined pituitary hormone deficiency (CCPHD) is a rare and heterogeneous disease entity, usually defined as at least two pituitary hormone deficiencies with onset in childhood, without known aquired causes. Variability includes causative gene mutations, clinical onset, hormonal deficiencies, cerebral imaging, neurological impairment and syndromal manifestations. In this webinar, European centers will report on their paediatric and adult cohort data followed by an open discussion led by experts in the field. Agenda
Welcome, Nienke Biermasz, Leiden, NL
Introduction, Henrik Christesen, Odense, DK, 5 min
Genotype-phenotype correlations in CCPHD. Mehul Dattani, London. UK, 10 min
The Finnish paediatric cohort. Taneli Raivio, [...]
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Our colleagues in EuRREB have recently published their Core Registry and e-REC Annual Reports which showcase significant growth in partipation and data collection. Over the past years, the introduction of condition-specific modules has been a key driver of engagement and improving insights into rare conditions.
Core Registry highlights:
Growing participation 51 active centres are now contributing data to the Core Registry 35 centres within ERNs & 16 centers outside ERNs 3980 cases entered since October 2018 by 87 users Advancing Research and Patient Care 11 Condition-specific modules developed across 6 MTGs increasing reporting [...]
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The European Society of Endocrinology (ESE) has launced a new educational programme aimed to address the unmet needs of the calcium, phosphate and bone community – ESE Rare Calcium Phosphate and Bone disorders (ESE Rare – CaPaB). Details about the ESE Rare-CapaB programme can be found on the ESE website.
The first stage of this Educational Programme is an online survey, which has been created by an expert panel and includes five questions (one per condition) with a proposed set of clinical, diagnostic and therapeutical unmet needs.
The aim of this survey is to [...]
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The key findings from the latest EURORDIS Rare Barometer survey revealing widespread barriers faced by the 30 million people living with rare diseases in Europe in their daily lives.
There were several key insights related to rare endocrine conditions:
8/10 people with rare endocrine diseases live with disabilities 62% had difficulties with at least 2 activities – seeing, hearing, walking/climbing stairs, remember/concentrating, selfcare, communication 36% found it difficult or very difficult to obtain publicly funded support 48% experienced discrimination related to the rare disease or disability 23% of people with rare endocrine diseases are unemployed
Download key findings of [...]
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Endo-ERN would like to welcome our newest ePAG Marta Baranska.
Marta is the founder and representative of the non-profit organization The Pituitary Gland Association Poland (Szczecin, Poland), which supports patients with pituitary gland disorders and their families.
Marta is living with Cushing’s Disease but balances taking care of her health with a busy and diverse career. Marta shares more, “I have built a strong career as a lecturer at the Maritime University, a sailing ship captain, and an expert at the International Maritime Organization in London. Additionally, I am a certified Cognitive Soul, Life & Business Coach.
Beyond [...]
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A public consultation is now open seeking information from a range of #rare disease stakeholders. This information will be utilized by the Committee on Public Health (SANT) to bring a better understanding and detailed knowledge of the challenges of persons affected by rare disease and views of persons working with or involved in rare diseases.
Check out the full announcement here and complete the survey by the end of March.
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Call for abstracts is now open for the upcoming European Society for Paediatric Endocrinology (ESPE) and French rare diseases healthcare network (OSCAR) being held 18-19 September in Paris France. Late-breaking abstract submission deadline 27 April, 2025, 23:59 CET. Abstract submitters will be notified regarding acceptance/rejection oral/poster by 26 may, 2025.
Check out the full programme with topics such as:
Short Stature and Bone Growth Lessons from the Growth Plate and Tools What’s New in Vitamin D? Teeth as a Model to Study Bone Pathology Fibrous Dysplasia of Bone Round Table on Recent Guidelines and Perspectives [...]
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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.
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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 [...]
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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 [...]
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