t

Universitäts­klinikum Heidelberg

Stefan Kölker (Coordinator)

Heidelberg

Germany

Vseobecna Fakultni Nemocnice v Praze

Viktor Kozich (Dissemination lead)

Prague

Czech Republic

Ospedale Pediatrico Bambino Gesu

Carlo Dionisi­ Vici (Evaluation lead)

Rome

Italy

Universitäts­klinikum Heidelberg

Thomas Opladen (Registry lead)

Heidelberg

Germany

Hospital Sant Joan de Deu

Angels Garcia­­Cazorla (iNTD Representative)

Barcelona

Spain

Helios Dr. Horst Schmidt Kliniken Wiesbaden

Maurizio Scarpa (MetabERN Cor­dinator)

Wiesbaden

Germany

About MetabERN MetabERN is a European non­profit network established by the EU to facilitate access to the best available care and address the needs across the border of all patients affected by any rare inherited metabolic disease (IMDs) and their families. MetabERN is driven by the principle of patient­centred care for the provision of its services aiming at improving the quality of life of patients and families. MetabERN aims to connect the most specialised centres in the area of rare IMDs to promote prevention, accelerate diagnosis and improve standards of care across Europe for patients living with IMDs.

MetabERN is entirely patient and expert­led. Through the combination of patient experience and expert knowledge from across the EU, it captures the most innovative medical advances and tailors them to patient needs.

MetabERN http://metab.ern­net.eu/

ERKNet www.erknet.org/

E­IMD www.e­imd.org/

E­HOD www.e­hod.org/

iNTD www.intd­online.org/

ePAG Belgian Patient Organisation for Meta­bolic Diseases (BOKS)

http://metab.ern­net.eu/patient­association/

Gaucher Association UK

www.gaucher.org.uk/

Landeskrankenhaus Bregenz

www.lkhb.at

Kinderspital Zürich www.kispi.uzh.ch/

User GroupU-IMD will be available for all Members of MetabERN. U­IMD is intended to be used by physicians treating patients with rare inheri­ted metabolic disorders.

Associated partners

Collaborating Stakeholders

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 with rare Inherited Metabolic Disorders (IMDs). The project has three major activities:

1. Establishing the U­IMD patient registry as a tool of the European Reference Network for Hereditary Metabolic Disorders (MetabERN).

U­IMD 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. U­IMD will be the first unified European registry that encompasses all IMDs.

2. Upgrading already existing IMD registries to the standard of U­IMD, starting with the registry of the International Working Group on Neuro­transmitter Related Disorders (iNTD).

3. Developing a standard for minimal core data sets shared by the MetabERN and the European Rare Kidney Disease Reference Network (ERKNET).

www.u-imd.org

The U­IMD registry will cover all IMD subgroups specified by MetabERN:• Amino and organic acids-related disorders (aoa)• Pyruvate metabolism, mitochondrial oxidative

PhosPhorylation disorder s, 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 (NOMS)

U­IMD will follow an open multiple stakeholder approach, explicitly seeking collaborations with national and EU level health authorities, other scientific networks and consortia, patients, parent organizations as well as industry.

Disease Spectrum Data model & AccessThe diverse nature of the heterogeneous etiological and clinical spectrum of the Metab ERN disease panel necessitates the limitation of data collection to a minimal set of common data elements and the usage of controlled and standardized vocabularies for the description of the clinical phenotype and treatment strategies.

The U­IMD registry will collect data using four modules:• module 1: common data elements of the eu

rd Platform.

• module 2: clinical PhenotyPe using the human PhenotyPe ontology and cognitive develoP ment by standardized tests.

• module 3: Patient PersPective using quality of life questionnaires.

• module 4: treatment using the Who atc classification system

U­IMD is committed to a lean data model but will consider the addition of further standardized vocabularies.

Stakeholders

U­IMD is a web­based patient registry. U­IMD will be accessible via the internet using pass­word protected user accounts and encrypted data transfer between server and client.

This leaflet is part of the project / joint action ‘777259 / U-IMD’ which has received funding from the European Union’s Health Programme (2014-2020).

The content of this leaflet represents the views of the author only and is his/her sole responsibility; it can not be considered to reflect the views of the European Commission and/or the Consumers, Health, Agriculture and Food Executive Agency or any other body of the European Union. The European Commission and the Agency do not accept any responsibility for use that may be made of the information it contains.