Rare inherited metabolic diseases (IMDs), of which there are more than 700, are individually rare but collectively frequent. Many metabolic diseases have severe, sometimes life-threatening, implications for patients. These conditions include disorders of all organs, can affect people of any age, and require multidisciplinary collaboration between a range of professionals.
Early diagnosis can improve outcomes but only 5 % of known IMDs are currently included in newborn screening programmes in Europe and there is a need for harmonisation of national programmes. For many of these conditions, knowledge about their natural history, the efficacy and safety of therapies, and longterm follow-up is incomplete.
MetabERN seeks to improve the lives of people affected by this highly heterogenous group of diseases by dividing them into seven main categories. It is the first pan-European and pan-metabolic network of its kind.
The network is setting up an inventory of metabolic diseases, developing patient information and training sessions, advancing collaborative diagnosis of new diseases, and establishing a long-term referral point bringing expertise to patients.
MetabERN will develop a real-time consultation platform for clinical decision-making processes and foster translational research programmes across IMDs. It will share knowledge within the network and beyond by expanding to additional regions and countries.