Endo-ERN is focused on 8 main thematic groups (MTGs) which cover rare and/or complex endocrine conditions
Endo-ERN is a network of 100+ Reference Centres (RCs) in 27 EU member states+Norway that offers access to clinical experts for patients with rare endocrine conditions.
Endo-ERN is the network for rare endocrine conditions providing healthcare professionals with access to a variety of resources to support patient care.
If you work at a member institution this page will help with your Endo-ERN contributions.
Access to rare disease expertise without the need to travel is a core ERN objective. Our ePAGs contribute to all Endo-ERN activities.
Genetic testing can be provided free of charge through Blueprint Genetics, a provider of genetic testing and diagnostics services. This initiative has been facilitated by BridgeBio, which offers financial support.
A practical workflow has been outlined to support centers across the Endo-ERN network in navigating this process.
First contact – Please reach out to the Corinna Grasemann, MTG2 paediatric chair for patients under 18 years, or to the Eva Kassi, MTG2 adult chair for patients over 18 years. Through us, you can initiate the CPMS discussion.
CPMS case discussion – Enter the case into CPMS after discussing it with the MTG2 Chairs and completing the Checklist for Genetic Testing Eligibility. Connect with the CPMS Helpdesk if you need any assistance.
Follow-up after CPMS advice – If the CPMS panel supports genetic testing, the center should prepare to send the sample for genetic testing. A Checklist for Genetic Testing Eligibility in Idiopathic Hypoparathyroidism was developed by MTG2 chairs, Endo-ERN Genomic Testing Working Group and with Maria Yavropoulou, the ESE HypoPara Guideline Committee representative. After the CPMS discussion, we will provide you with all the necessary documents to arrange the testing with the company offering it.
Reporting of results- Once testing is completed, the HCP is expected to report the results in CPMS and discuss the outcomes with the patient. We also encourage you to obtain informed consent to include the case in the EuRREB HypoPara module. For more information about the HypoPara module, please contact Maria Yavropoulou. You can contact the European Registries for Rare Endocrine and Bone Conditions European Registries (EuRREB) for additional information.