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.

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.

Figures

Fig. 1

Crossing borders for patients with rare OAD and UCD. The E-IMD network so far includes 87 partners from 25 countries on four continents. Note that the coloured areas do not reflect the exact geographical coverage of E-IMD

Fig. 2

Milestones of the activation process in associated and collaborating partners. The time required for receiving ethics approval was adjusted to the date when the coordinating partner had received ethics approval and to the individual dates of signing the consortium agreement (for collaborating partners who have joined the consortium after the kick-off meeting)

Fig. 3

Timeline of recruiting and registering patients. Lines indicate cumulative frequencies of registered patients, baseline visits and regular follow-up visits during the funding period. Dotted lines indicate the cut-off date for the interim analysis (22 October 2013) and the end of the EU funding period (30 April 2014)