title: Networking Across Borders for Individuals with Organic Acidurias and Urea Cycle Disorders: The E-IMD Consortium.
abstract: BACKGROUND
  Patients with organic acidurias (OAD) and urea cycle disorders (UCD) are at increased risk of disability, impaired quality of life and reduced life expectancy. Clinical care in any one centre is constrained by small patient numbers; and furthermore diagnostic and treatment strategies vary between metabolic centres and countries, resulting in significant inequalities and disparity in patient outcome.
  
  
  OBJECTIVE
  The overall objective of the EU-funded activity 'European registry and network for intoxication type metabolic diseases' (E-IMD) is to collect systematic data to improve the knowledge of these diseases, to develop consensus care guidelines and to provide detailed information materials for families and professionals.
  
  
  RESULTS
  Within three years E-IMD has (1) established a network of 87 partners in 25 countries (2) set up a patient registry of more than 1,000 individuals with OAD and UCD, (3) launched a website ( www.e-imd.org ) including detailed information materials in 11 languages, (4) developed guidelines for OAD and UCD, (5) organised two teaching courses and various scientific meetings, (6) extended the IT platform clustering with other inherited metabolic diseases (IMD) and (7) strengthened the collaboration with other international scientific consortia.
  
  
  CONCLUSIONS
  E-IMD has made important steps towards improving and sharing knowledge on OAD and UCD and harmonisation of diagnostic and therapeutic strategies. Through the establishment of a modular patient registry, clustering with other IMD and stepwise extension of the network, E-IMD has implemented the core components of a European Reference Network for rare diseases.
authors.affiliation: Division of Inherited Metabolic Diseases, Department of General Pediatrics, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany, Stefan.Koelker@med.uni-heidelberg.de.
authors.forename: Stefan
authors.initials: S
authors.lastname: Kölker
authors.forename: Dries
authors.initials: D
authors.lastname: Dobbelaere
authors.forename: Johannes
authors.initials: J
authors.lastname: Häberle
authors.forename: Peter
authors.initials: P
authors.lastname: Burgard
authors.forename: Florian
authors.initials: F
authors.lastname: Gleich
authors.forename: Marshall L
authors.initials: ML
authors.lastname: Summar
authors.forename: Steven
authors.initials: S
authors.lastname: Hannigan
authors.forename: Samantha
authors.initials: S
authors.lastname: Parker
authors.forename: Anupam
authors.initials: A
authors.lastname: Chakrapani
authors.forename: Matthias R
authors.initials: MR
authors.lastname: Baumgartner