Thus far 11 members of MetabERN and one HCP which is not part of MetabERN have joined the project and more than 500 patient records have been added to the registry (see directly on the homepage of the registry: https://www.u-imd-registry.org/). While this is a great success, U-IMD is still in need of wider participation of the ERN to reach all of its aims.
Rare Disease Day 2020 takes place on the last day of February. This year is the 13th edition of the international day of rare disease awareness, and highlights that 'Rare is many, rare is strong and rare is proud'. The main objective of Rare Disease Day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients' lives.
A team of MetabERN members has written a publication in the Orphanet Journal of Rare Diseases (OJRD) titled “Availability, accessibility and delivery to patients of the 28 orphan medicines approved by the European Medicines Agency (EMA) for hereditary metabolic diseases in the MetabERN network”. The European Medicine Agency granted marketing approval to 164 orphan medicinal […]
Since the end of 2019, MetabERN has 9 new Healthcare Providers from 5 different countries that are Affiliated Partners (APs) to our network. They are bringing the total number of HCPs that are involved in MetabERN to 78 from 23 EU members states. The names and contact details of these HCPs can be found on this page of this website
Patient Journeys “I will not be ashamed to say ‘I don’t know’, nor will I fail to call in my colleagues…” But what if there are no other healthcare...
On-time diagnosis is crucial for access to treatment and clinical trials, disease management, and to access the proper care services at the earliest of the disease possible.
This joint event will continue the RE(ACT) Congress series (6th edition) and IRDiRC Conference series (4th edition). It aims to bring together scientific leaders and experts and young scientists from a variety of breakthrough scientific fields to present cutting-edge research, exchange ideas, and discuss policies related to rare diseases research. Patients and patient organizations, who are committed to research, will also be in attendance to share their experiences and perspectives.
European Working Group on Gaucher Disease Webinar | Laboratory Diagnostics of Gaucher Disease - 11 Dec 2019 from 17:00-18:00 CET
Patients and specialists of Anderson-Fabry disease will meet in Florence on March 28th-29th, for the Annual Italian Meeting organized by AIAF Onlus.