The EUHA Rare Diseases & European Reference Networks (RD & ERNs) Network met in Paris on the 15th and 16th of November. The network discussed the minimum set of requirements to ensure a proper transition from paediatric to adult healthcare for rare disease patients, explored the possibilities for implementing exchanges and emphasised the role of the network to support transversal work on rare diseases in our hospitals, collaboration with ERNs, exploring potential synergies and avoiding parallel work. AP-HP was very happy to host this very insightful meeting.
Providing high-quality and cost-effective care is especially challenging for rare diseases with low prevalence. EUHA’s RD & ERNs colleagues are working together towards the identification and implementation of collaborative healthcare pathways for rare disease patients and to make sure university hospitals are well equipped to provide high-quality specialised care for complex diseases across Europe. For this reason, the RD & ERNs network met in Paris on the 15th and 16th of November, to discuss the progress of their current projects. The meeting brought together significant strategic expertise from a wide range of stakeholders including ERNs coordinators, paediatric to adult healthcare transition experts, project managers, representatives of major Rare Diseases Platforms and rare disease experts coming from EUHA hospitals and France.
Paediatric to adult healthcare transition
Transition experts from AP-HP shared experiences and presented ideas about the tools needed in the transition of rare diseases from paediatric to adult healthcare. For instance, the network discussed the role of advanced nurse practitioners in improving patient experience and the importance of including adult physicians in transition matters.
In addition, EUHA colleagues presented their achievements concerning transition and restated their commitment to measuring its impact on patient wellbeing and to working toward a unified set of recommendations to guide the transition at a European level.
AP-HP Rare Diseases Platforms
Different representatives from the Rare Diseases Platforms at AP-HP and national French Networks (filières) joined in a roundtable and shared with EUHA colleagues best practices and challenges related to the management of Rare Diseases at a national level. For instance, experts clarified the organisation of Rare Diseases Platforms and centres in France and presented their national plans, tools, and registries that ensure that quality studies in the context of rare diseases can be accomplished to monitor patient wellbeing.
Coding and Classification of Rare Diseases
The EUHA network, together with rare disease experts from AP-HP, also highlighted the unmet need for harmonisation of rare diseases classification and coding both on patient journal systems and registries. Anne-Sophie Lapointe, from the French Ministry of Health, presented her initial thoughts on the action plan to improve data sharing across the EU, France being the co-leader of the work package on data management in the Joint Action on the integration of ERNs in the national health system. EUHA was invited to play an active part in this work.
Finally, the network discussed the most pressing issues and challenges on rare diseases in order to prioritise tasks and projects for the upcoming future. The RD & ERNs network plans to meet regularly in the upcoming months to define and act upon the action plans derived from the fruitful meeting in Paris.