On Friday, 21 March, ERN eUROGEN hosted a dedicated Thematic Session at the annual European Association of Urology congress (EAU25) held in Madrid, spotlighting its multidisciplinary work across rare and complex urology.
Chaired by Coordinator Professor Peter Mulders and Programme Manager Michelle Battye (Radboudumc), the session brought together clinicians, researchers, and patient representatives to share progress, priorities, and the power of collaboration across Europe.
The session was structured around ERN eUROGEN’s three core workstreams: rare congenital uro-recto-genital anomalies (paediatrics), functional urogenital conditions requiring highly specialised surgery (adults), and rare urogenital tumours. Presentations also reflected the vital contribution of the European Patient Advocacy Group (ePAG), whose voice is embedded throughout the ERN’s activities.
The ERN Ecosystem and Strategic Collaborations
Wout Feitz, former ERN eUROGEN Coordinator, introduced the session with an overview of the ERN ecosystem and the unique resources available to patients and clinicians through ERN eUROGEN. These include virtual consultations via CPMS, a rare disease patient registry, clinical guidelines, and Supporting Partnerships with organisations such as ARM-Net, EAU, ESPU, ESSIC, EURORDIS, and ICS.
He also highlighted the importance of integrating ERNs into national health systems through initiatives like the JARDIN Joint Action and the potential of ERDERA (European Rare Diseases Research Alliance) for research funding.
Empowering Patients and Enhancing Awareness
John Osborne, Chair of the ERN eUROGEN ePAG, delivered a powerful presentation titled “Patient Power”, underlining the central role of patients in ERNs. He shared how patients contribute meaningfully to guidelines, care pathways, patient education, research publications, and outreach.
The ePAG’s 2025 strategy focuses on improving quality of life and raising awareness about the common challenges faced by those with rare and complex urological conditions. John also presented a penile cancer patient survey, whose early findings suggest that while patients report positive surgical experiences once referred, there remains a pressing need for earlier diagnosis and better post-operative psychological support.
Lifelong Management and Fertility Considerations
Two speakers addressed issues of fertility and long-term care in patients with rare urogenital conditions. In a presentation titled “Klinefelter Syndrome/XXY diagnosis and infertility: Qualitative insights into the experiences of those affected“, Claire Harkin, a member of the ERN eUROGEN ePAG representing the Klinefelter’s Syndrome Association, shared new qualitative insights into the experience of receiving a KS/XXY diagnosis during infertility investigations. She emphasised the need for early diagnosis and sensitive communication.
Expanding on this, Tet Yap (Guy’s and St Thomas’ NHS Foundation Trust) stressed the importance of a lifelong service model for KS/XXY and explored treatment timings for fertility preservation, suggesting a mean successful age of 29 years. He also touched on future therapeutic possibilities currently under investigation.
From Paediatric to Adult Care: Ensuring Smooth Transitions
Barbara Dobrowolska-Glazar (Uniwersytet Jagielloński Collegium Medicum), in a presentation titled “Bladder and bowel dysfunction in patients with neurogenic bladder: The need for transition“, spoke about the management of bladder and bowel dysfunction in patients with neurogenic bladder and the challenges of transitioning from paediatric to adult care. She advocated for early preparation—starting at age 12—and highlighted the need to protect renal function to maintain quality of life.
Giovanni Mosiello (Bambino Gesù Children’s Hospital), also promoted the importance of multidisciplinary collaboration in complex conditions like spina bifida and anorectal malformations (ARM) in his presentation “The role of the urologist in patients with spina bifida and anorectal malformation: Advantages of multidisciplinary team management“.
Both referenced new ERN-led guidelines on these conditions developed with key partners across the rare disease and paediatric urology fields.
Insights into Surgical Strategies and Clinical Studies
Matthieu Peycelon (Hôpital Robert-Debré) presented on “Posterior Urethral Valves: State of the Art – What can we learn from multicentric studies and collaboration through rare disease centres?” PUV is a life-threatening but rare condition affecting 1 in 7,000 births. His presentation reinforced the value of collaboration through accredited rare disease centres, such as those in ERN eUROGEN and ERN ERKNet.
Pedro López Pereira (Hospital Universitario La Paz) discussed “Penile curvature in proximal hypospadias“, comparing dorsal plication and ventral lengthening. He presented outcome data and offered insights into his centre’s treatment protocol.
Rare Urological Tumours: From Genetic Testing to Surgical Expertise
Peter Mulders (Radboudumc) returned to the podium to discuss “Hereditary kidney cancer“, including Von Hippel-Lindau, Birt-Hogg-Dubé, and HLRCC. He advocated for including genetic testing in managing renal cell carcinoma and underscored the importance of specialist networks like ERN eUROGEN and ERN GENTURIS in delivering optimal care.
Nikola Knežević (University Hospital Centre Zagreb) closed the session with a presentation on “Adrenal cancer, incidence and diagnostics“. Emphasising the role of high-volume expert centres and multidisciplinary teams, he proposed that ERNs could play a key role in pooling data to better guide treatment strategies and reduce unnecessary interventions.
Continuing to Strengthen Collaboration Across Europe:
The ERN eUROGEN Thematic Session on Rare & Complex Urology at EAU25 showcased the breadth and depth of ERN eUROGEN’s work. From guideline development and cross-border clinical collaboration to elevating the patient voice, ERN eUROGEN continues to demonstrate how European cooperation can improve outcomes for patients with rare and complex urological diseases.
