How can we help patients with a rare disease in the best possible way? On Tuesday, February 18, the European strategy on rare diseases was discussed during the Rare Disease Day Policy Event with members of the European Parliament in Brussels. The Leiden University Medical Center (LUMC) was represented by. LUMC professor prof. Alberto Pereira as invited speaker, and as coordinator of the European reference network on rare endocrine conditions (Endo-ERN) sharing his experiences and vision for the future.

A person is considered having a rare disease if his or her condition affects less than 1 in 2,000 people, which means that about 30 million people livewith a rare condition in the European Union. It is estimated that around 6,000 rare diseases occur in Europe. Because these diseases require specialized and often complex treatment, patients often have difficulty acquiring  the correct diagnosis and appropriate treatment and care.

To provide patients access to the best care, it is important that health care providers (HCPs) from all over Europe actively exchange the required knowledge with each other. The ERN Hospital Managers network plays an important role in facilitating these European Reference Networks (ERNs). By bringing together specialists from across Europe, patients can be helped much faster and better in the future. Willy Spaan, chairman of the Board of Directors of LUMC, is the present chairman of this active network of European directors of academic medical centers and hospitals.

Rare Disease Day Policy Event

At the Rare Disease Day Policy Event stakeholders discuss what is needed in Europe to better respond to the needs of patients with a rare disease. Various leading healthcare professionals, policy makers and patients discussed the access to (orphan) medicines, holistic and patient-oriented care, research into patient-relevant outcome measures, and the effectiveness and added value of cross-border healthcare.

The LUMC strategically focuses on value-based healthcare, with the patient’s perspective playing a major role in shaping care. Several care pathways for patients with a many rare conditions have already been developed.

At LUMC, doctors and researchers are already dealing with 125 different rare diseases in 40 centers of expertise. The knowledge and experiences are discussed in Brussels. Among other things, Pereira explained the importance of joint research funding for ERNs, a coordinated access to data and services, capacity building, and the need fora rapid translation of research and therapy development.

International collaboration 

To further improve care for patients with a rare disease, health care professionals, researchers and patient representatives at LUMC have been exchanging specialist knowledge with other colleagues in the field through participation in 8 ERNs since 2017.. The LUMC is the coordinating center in Europe of the ERN on Rare Endocrine Conditions (Endo-ERN). By using novel ICT technology developed by the European Commission, the Clinical Patient Management System (CPMS), virtual consultation by a panel of Multidisciplinary experts enables patients with rare diseases from other European countries to obtain the required expertise without having to travel to the LUMC.

The LUMC is also a member of the International Rare Diseases Research Consortium (IRDiRC). This consortium is working on one clear mission: to provide all people with rare diseases with a precise diagnosis, the best care and therapy within one year after medical assistance.

The Endo-ERN Newsletter of January is out now. Read about the upcoming organized webinar, Rare Disease Day, a new patient representative joined MTG 8 Thyroid, FAQ regarding Brexit and an overview of the upcoming events.

The newsletter can be found here.

EJP-RD has opened funding calls for training programs based on two main components: research mobility fellowship and research training workshops.

The aim of these programs is to fill the gap in the available education on rare diseases research by creating and implementing a comprehensive and cohesive program of education and empowerment for different target groups or stakeholders such as researches and young clinicians.

Submission for the fellowship is possible until 16th of March 2020. For the research training workshops, the deadline for submission is 2nd of March.

For more information, visit the website.