More than 1400 inherited metabolic diseases (IMDs) have been identified so far. Each IMD is a rare condition, but IMDs are collectively affecting at least one in 500 newborns. Clinical presentation of IMDs is wide-ranging from the involvement of single organ systems to multi-systemic disease, confronting patients with significant and often severe health problems resulting in high morbidity, reduced life expectancy, and low quality of life. Despite progressive awareness of metabolic diseases due to the offer of innovative therapies and the possibility of early diagnosis, natural histories are scarce for most IMDs.
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 to create the Unified Registry for Inherited Metabolic Disorders (U-IMD) has been approved by the EU.
The primary objective of this project is to establish the first unified European registry that encompasses all inherited metabolic disorders (IMDs) as listed by Orphanet. This project aims to promote health for children, adolescents, and adults affected by rare IMDs and reduce variation between countries. Furthermore, to enable and empower patients, wherever they live, to access the necessary expertise and services and promote research on IMDs and develop safe and efficacious new treatments. The U-IMD will systematically collect data of affected individuals with an IMD of an unidentified molecular origin and group them according to their clinical and biochemical phenotype. This will help identify and systematically treat and follow these patients once the aetiology of their disease has been clarified. This will also allow us to understand the epidemiology of many IMDs better.