NEW: EuRREB Core Registry & e-REC annual reports

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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CONTRIBUTE: ESE Rare Calcium Phosphate and Bone disorders (ESE Rare – CaPaB) Survey

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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NEW: EURORDIS Rare Barometer Results

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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WELCOME: NEW ePAG Marta

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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CONTRIBUTE: Committee on Public Health (SANT) launches public consultation on rare diseases

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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SUCCESS: TALENT meeting report

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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WINNER: 2025 Patient Partnership Good Practice Challenge

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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ACTIVE: ePAG Association GRANDIR

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

 

 

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NEW: Materials from the European Commission for Rare Disease Day

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

 

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NEW: Clinical Practice Recommendations for the Diagnosis and Treatment of X-linked hypophosphataemia

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 [...]

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