The workshop, hosted by Istituto Superiore di Sanita, in Rome, Italy, will focus on the question: How can ERNs generate, appraise and utilise clinical practice guidelines, to enhance the impact and deployment of consensus guidelines. The AIMS of the workshop will be: To agree a list of terminology pertaining to Guidelines, to be used between […]
The European Commission (DG SANTE), on November 20th 2017, launched the First Clinical Patient Management System. It’s a web-based application aimed at supporting ERNs in improving the diagnosis and treatment of rare or low prevalence complex diseases across national borders of Member States in Europe. By providing tools for collaboration and virtual consultations CPMS enables […]
The 20th anniversary edition of the EHFG took place 4-6 October 2017 in Bad Hofgastein, Austria, gathering over 500 participants. The EHFG is the most important health-related event in the European Union and a meeting point for experts from different fields within the health system. Different knowledge and different experiences are brought together to the […]
We are currently recruiting PMM2-CDG patients of all ages for an observational clinical study (GLY-000). This is the first time PMM2-CDG patients will be studied in a multi-center, multi-national group. To be clear: none of the patients in this study will receive an investigational drug. This is only an observational study, but the results are […]
We wish to announce the Recordati Rare Diseases foundation Focus Course on SYNAPTIC METABOLISM AND BRAIN CIRCUITRIES IN IEM: EXPLORING OLD AND NEW DISORDERs held 16 – 18 November in Barcelona, Spain. The course will focus on the synapse as a highly specialized structure with specific chemical composition and metabolic functions necessary for an appropriate […]
On behalf of our Priority Setting Partnership, I would like to share our questionnaire to set research priorities for liver GSD: http://tiny.cc/IGSD-English Let us know where you think research should be directed in the future. It will take just 5 minutes to complete and is open to anyone with a personal or professional connection to […]
The third international meeting of the Scandinavian Association for Glycogen Storage Disease focused on hepatic glycogen storage disease and was organized for health-care professionals, patient representatives, and representatives from the industry. This report highlights dilemmas in dietary management, differences in monitoring strategies, and challenges with rare disease care, research, and patient participation. http://journals.sagepub.com/eprint/mvxdh5nWD52b7Fg65N8w/full
Organized by the Italian Ministry of Health, the ERN Info Day’ was held in Rome (Italy) on October 16th, 2017. This meeting was aimed to create collaboration among the Italian HCPs involved in the European Reference Networks (ERN), that as highlighted by Andrzej Jan Rys (Director HelathSystems, Medical Products and Innovation, DG Sante’) are virtual […]
Following the call for applications for Rare diseases (3rd Public Health Programme) in support of the setup of new registries we are proud to announce that proposal for the creation the Unified Registry for Inherited Metabolic Disorders (U-IMD) has been approved by the EU. The major objective of this project is to establish the first unified […]
The 3rd World Conference on CDG for families and professionals in July 2017 gathered 51 families from 20 worldwide countries and united 73 professionals from 14 different countries. Half of the professionals were associated to MetabERN. Many cultures and backgrounds, but definitely one single goal: United to shape the future of CDG. Two full days […]