ERN-ITHACA is a patient-centred network that meets the needs for highly specialized, multidisciplinary healthcare for patients with rare (multiple) malformation syndromes and rare intellectual and other neurodevelopmental disorders of genetic, genomic/chromosomal or environmental origin, both diagnosed and undiagnosed.
ITHACA stands for Intellectual disability, TeleHealth, Autism and Congenital Anomalies. The name ITHACA also refers to the Odyssey that for many families the diagnostic journey of a child with a rare developmental disease represents.
Led by Prof. Alain VERLOES at APHP-Robert DEBRE University Hospital since March 2019, the network today consists in 70 full Member HCPs from 25 Member States. Through sharing expertise, experience and resources, ERN-ITHACA aims to further patient care, research and access to information about rare congenital malformations and intellectual disability.
Foundation of ERNs
European Reference Networks (ERNs) for rare diseases and complex conditions have been established in 2017 following the European Directive on the application of patients’ rights in cross-border healthcare.
Their establishment has been deemed by the rare disease global and European stakeholders as an unprecedented move in improving the healthcare management of patients suffering from rare diseases.
Within the European Union, a disease is considered rare when it affects less than 5 per 10 000 persons in all Members States. The aim of ERNs is to collect and share knowledge about rare diseases which is by definition scarce and fragmented because of the low prevalence of these conditions. The resulting pool of expertise is expected to help developing best practices in the coordination of patient care pathways, reducing negative outcomes for patients suffering from rare diseases, like diagnostic wandering, while improving the general quality of care and diminishing the cumulative cost to society.
There are currently 24 established and active virtual networks, each focusing on a specific medical domain of rare diseases or complex conditions. To learn more about ERNs in general, have a look at their dedicated page on our website: ERN-ITHACA | European Reference Networks.
The ERN ITHACA was established by Pr. Jill Clayton-Smith and the Manchester University NHS Foundation Trust in 2017. After a successful development of the network by Pr. Clayton-Smith and her team, its coordination had to be transferred to another Member State because of Brexit. French Assistance Publique-Hôpitaux de Paris (APHP) was chosen to host the network coordination and Pr. Verloes was elected by the ITHACA Board as the new Coordinator in the autumn of 2018.
In 2017, the ERN ITHACA networks 36 Full Members and one Affiliated National Centre, with a functioning governance, financial and coordination structure. Following Brexit, 3 UK Members could no longer remain part of the organisation. Two years later, in 2021, the network welcomed a total of 70 Members from 25 different Members states, plus one rare disease Center from Norway as a partner country that participates in the ERN system.