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2015 ; 22
(ä): 29-38
Nephropedia Template TP
gab.com Text
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English Wikipedia
Networking Across Borders for Individuals with Organic Acidurias and Urea Cycle
Disorders: The E-IMD Consortium
#MMPMID25701269
Kölker S
; Dobbelaere D
; Häberle J
; Burgard P
; Gleich F
; Summar ML
; Hannigan S
; Parker S
; Chakrapani A
; Baumgartner MR
JIMD Rep
2015[]; 22
(ä): 29-38
PMID25701269
show ga
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. AIMS/METHODS: 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.