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eUROGEN: Improving lives for patients with rare diseases

The European Reference Network (ERN) eUROGEN is already the most proactive of the 24 ERNs approved and funded by the European Commission (EC), announced Mrs. Michelle Battye (GB) in a specialty session today.

The ERN unites 29 European healthcare providers in 11 EU member states in order to improve diagnoses and create more equitable access to high-quality treatment and care for patients with rare uro-recto-genital diseases as well as complex conditions needing highly specialised surgery. “This is a completely innovative step change in healthcare. It is not a project; it’s a new form of collaboration that will continue,” said Battye.

Thirty million Europeans are affected by 6,000-8,000 rare diseases (‘rare’ being defined as fewer than 1:2,000 people) with many requiring surgical correction, some during the neonatal period or in childhood. Rare disease patients may need transitional or even life-long care provided by expert multidisciplinary teams (MDTs) in areas such as surgery, physiotherapy and psychotherapy.

When these patients cannot be adequately treated in their own country their case can be referred to an ERN to be dealt with using a new IT platform, the Clinical Patient Management System (CPMS). This allows virtual multi-disciplinary team meetings, so that the expertise travels across borders rather than the patient. The platform launched in November 2017 and eUROGEN already leads as its top user.

Patients have had a huge part in making ERNs a reality and are involved in eUROGEN at every level, advising on strategy, disease specific areas, pathways, guidelines, and patient information. Speaking at the session, Mrs. Serena Bartezzati (IT) from eUROGEN’s European Patients Advisory Group (ePAG) said, “I am a professional patient; I didn’t decide to be one, I am one.” She emphasized the role for patient groups in ERNs: “If you involve us we can really make the difference, as we can advise you what a disease means for patients.”

There is currently a lack of guidelines on rare urogenital diseases and eUROGEN aims to establish these even in areas where there is little or no evidence.  At the session, Dr. Axel Bex (NL) from the EAU Guidelines Office (GO) explained that a new EAU initiative could help with this process. The Consensus Finding Development Committee (CONFIDENCE) receives requests for consensus meetings and assesses whether the areas are clinically relevant and/or highly controversial and whether the level of available evidence is low. If this is the case, steering committees are compiled, stakeholders selected, and consensus-finding questions are set and posed using a three-round Delphi survey, followed by a formal consensus group meeting with the stakeholders. As a result consensus statements on rare diseases and conditions can be published.

eUROGEN will also collect currently lacking data on diagnosis, treatment, follow-up options, and long-term outcomes for the first time for rare disease patients at European level. In addition, the network will facilitate evidence-based research on new treatments and surgical techniques, as well as focusing on training and education through case report collection, live surgical masterclasses and support for visiting clinicians.

Each eUROGEN workstream was represented in the session: Dr. Fred Van der Toorn (NL) spoke on Hypospadias registries and clinical implications (WS1: Rare congenital uro-recto-genital anomalies); Dr. John Heesakkers (NL) spoke on Complex functional urology; research, knowledge, gaps and solutions (WS2: Functional urogenital conditions requiring highly specialized surgery); and Prof. Maarten Albersen (BE) spoke on Clinical aspects and ERN impact on penile tumour care improvement (WS3: Rare urogenital tumours).

With nearly 50 years of experience as the leading authority in urological practice, research and education, the EAU has already developed a tremendous infrastructure of partners, clinical guidelines, educational resources and communication channels. eUROGEN will build on this existing platform, enhancing standards, improving education and driving innovation in urological care.

The eUROGEN members’ annual meeting will be held this year from 11-12 June in Noordwijk (preceding the EAU National Societies meeting) and a further update will be presented at next year’s EAU annual congress in Barcelona.

By Jen Tidman