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U-IMD is the acronym for the Unified European Registry for Inherited Metabolic Disorders. The overall aim of this project is to promote health for children, adolescents and adults affected by rare Inherited Metabolic Disorders (IMDs). The project has three major activities:
- Establishing the U-IMD patient registry as a tool of the European Reference Network for Hereditary Metabolic Disorders (MetabERN).
U-IMD will fully implement the common data elements of the European Platform on Rare Disease Registration (EU RD Platform) and will be integrated into the European Rare Disease Registry Infrastructure (ERDRI). U-IMD will be the first unified European registry that encompasses all IMDs.
- Upgrading already existing IMD registries to the standard of U-IMD, starting with the registry of the International Working Group on Neurotransmitter Related Disorders (iNTD).
- Developing a standard for minimal core data sets shared by the MetabERN and the European Rare Kidney Disease Reference Network (ERKNet).
Diseases in U-IMD
All IMDs, with no exclusion, are of interest to MetabERN. Considering the complexity of more than 1000 known IMDs rare IMDs are structured in 7 subnetworks by MetabERN.
The U-IMD registry will cover all IMD subgroups specified by MetabERN.
- Amino and organic acids-related disorders (AOA)
- Pyruvate metabolism mitochondrial oxidative phosphorylation disorders, krebs cycle defects, disorders of thiamine transport and metabolism (PM-MD)
- Carbohydrate, fatty acid oxidation and ketone bodies disorders (C-FAO)
- Lysosomal storage disorders (LSD)
- Peroxisomal disorders (PD)
- Congenital disorders of glycosylation and disorders of intracellular trafficking (CDG)
- Disorders of neuromodulators and other small molecules including porphyrias (NOMPS)
Who can participate in U-IMD
U-IMD will be available for all Members of MetabERN as well as for voluntarily collaborating health care providers (hospitals) outside of MetabERN. U-IMD is intended to be used by physicians treating patients with rare inherited metabolic disorders.
How to join U-IMD / How to submit patient data
- Contact the Registry Coordinator with the expression of interest by email; your application will be evaluated by the U-IMD Steering Committee.
- Sign the U-IMD letter of agreement
- Using the template approved by IRB in University Hospital in Heidelberg, prepare and submit ethics application for U-IMD to your local IRB (respecting national/local standards).
- Receive personalized usernames and passwords and start data entry.