NEW ePAG: Laura Maag from Surrénales

We are pleased to welcome Laura Maag as a new patient representative for the French association Surrénales. A dedicated member of the organization for over 16 years, Laura brings a wealth of experience and insight into adrenal conditions. She has actively contributed to key initiatives such as the European Emergency Card project and is deeply committed to advocating for patients’ needs. Her expertise and passion make her a valuable addition to the Endo-ERN community as we work together to improve quality of life for those living with rare endocrine conditions.

Welcome Laura!

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COMPLETE: Short survey to assess treatment of (older) adults with XLH.

Cristina Eller-Vainicher and Giovanna Mantovani at member institution Fondazione Cà Granda IRCCS Ospedale Maggiore Policlinico, Milan, Italy are currently conducting an international survey to investigate current practices, access disparaties, and regulatory differences regarding Burosumab treatment in X-linked hypophosphatemia (XLH) with particular focus on:

Challenges in the transition phase from paediatric to adult care Access and treatment continuity for patients over the age of 65

This initiative is especially relevant as, in Italy, adult access to Burosumab is limited: after the age of 18, treatment is reimbursed in the presence of an active fracture or pseudofracture only, and, after the age [...]

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NEW ePAG: ePAG Marc Büdenbender – Endo-ERN

We are pleased to welcome new ePAG Marc Büdenbender to Endo-ERN and MTG1.

Marc joined the board of Let’s Cure ACC after surviving stage IV adrenocortical carcinoma, driven by a strong desire to support others coping with this very rare and life-threatening disease. Becoming a member of the ePAG within Endo-ERN allows him to take that commitment to the next level — by working collaboratively with other patient representatives and medical experts in the field of rare adrenal disorders to improve patient care across Europe, equally and consistently, from diagnosis through [...]

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COMPLETE: ERDERA ATMP Prioritisation Survey

European Rare Disease Research Alliance (ERDERA) invite you to share your expertise to help determine which factors matter most – from unmet medical needs to psychosocial impact and research readiness. Your input will ultimately directly influence future research finding and therapeutic innovation for are diseases. Developing Prioritising Cristeria for Advanced Therapies for Rare Diseases – Guiding ATMP Development Through Structured Criteria

You can find below:

survey link A short video and PPT explaining the project and the rare disease prioritisation framework The Detailed Framework

It will take [...]

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DOWNLOAD NOW: CPMS 2.0 App now available in the Apple and Android stores

Another significant milestone in ERN history – CPMS 2.0 mobile app now available for download in the Android and Apple stores. This will increase the convenience of CPMS 2.0 use and the app is enhanced with several new features including:

advanced search audit logs enhanced meeting agendas improved user experience for assistants and admins.

If you are not yet using CPMS 2.0 for #virtual consultations now is the perfect moment to sign up and get started sharing or accessing expertise across the network.

Check out the available manuals and guides including a really [...]

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APPLY: EuRREB Participating Centre Voucher

The European Registries for Rare Endocrine and Bone Conditions (EuRREB) has launched a new initiative: the EuRREB Participating Centre Voucher. This voucher will give financial support to either new, eligible centres to become an active center in the registries (Center Start-Up Voucher), or to already active centres to be able to contribute to one of the EuRREB studies (Advanced Centre Voucher).

Centre Start-Up Voucher

For new centres, who are not active in the Core Registry €500 per centre €250 after receiving ethics approval €250 after uploading 100 cases into the Core Registry Once a year, 6 centres (3 Endo-ERN members, [...]

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NEW: EuRREB condition-specific modules

EuRREB

Our colleagues in the European Registries for Rare Endocrine and Bone Conditions (EuRREB) are excited to announce that the Langerhans Cell Histiocytosis (LCH) module is now live on the Core Registry platform.

This condition-specific module activates automatically once a patient with LCH is entered into the system- making data collection seamless and efficient.

What does the module include?

Clincial features (disease activity, biopsy results, genetic testing, organ improvement) Medical treatment (past and current) Malignancies & comorbidities Patient-reported outcomes via EQ-5D

The full data dictionary is available for download and more information [...]

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NEW: EuRREB publication

This publication from our EuRREB colleagues, Developing a Standardised Dataset for Natural History Studies in Fibrous Dysplasia/McCune-Albright Syndrome (FD/MAS), is a key milestone in improving clinical research and care for people living with FD/MAS. By establishing a harmonised dataset, we aim to support international collaboartion, enable meaningful data comparisions, and drive forward patient-centered research.

 

 

 

 

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Endo-ERN GA: Summary

Endo-ERN co-coordinators Alberto Pereira and Olaf Hiort welcomed 143 representatives from 93 reference centres, as well as 13 ePAGs in Copenhagen for the Endo-ERN General Assembly (GA). Taking place Friday, 9 May and Saturday, 10 May just before the start of the Joint Congress of ESPE and ESE. This is a short summary of the work package presentations and if you click on the presentation title you can download the full presentation. The MTG slides are available as well – click on the session title. If you have any questions please contact the Endo-ERN Project Office.

 

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LEARN: MOOC Diagnosing Rare Diseases

Now open! A facilitation window for the MOOC Diagnosing Rare Diseases: from the Clinic to Research and back is open from Monday, May 12, until Friday, July 4.
You can access the course here.

During this period, experts and mentors will be available online to answer participants’ questions and stimulate insightful discussions throughout the course.

This free online course, developed within the European Joint Programme on Rare Diseases (EJP RD), was co-created by ERN ITHACA, ERN GENTURIS, EURORDIS, and the Fondation Maladies Rares.

The MOOC explores key topics in the diagnosis of rare genetic diseases, including:

 [...]

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