ERN eUROGEN Special Session at EAU22

Jen Tidman ERN eUROGEN Business Support Manager Nijmegen (NL)

jen.tidman@ radboudumc.nl

ERN eUROGEN, the European Reference Network (ERN) for rare urogenital diseases and complex conditions requiring highly specialised surgery, will once again coordinate a Special Session on rare and complex urology at the 2022 Annual European Association of Urology Congress.

Network update

Programme Manager Michelle Battye (NL), will present an “Update on ERN eUROGEN Developments” as well as co-chairing the session with Network Coordinator Prof. Wout Feitz (NL). Workstream 2 - functional urogenital conditions requiring highly specialised surgery

In this presentation, Dr. Mariangela Mancini (IT), will consider “Vesicovaginal fistula: Management strategies and keys to successful treatment.” As a large, pan-European network, ERN eUROGEN represents a new opportunity for centres of expertise to provide and share advice for the management of vesicovaginal fistulas (VVF).

As part of her update, she will note that on 1 January 2022, ERN eUROGEN has nearly doubled in size, with 29 full healthcare provider members joining following the 2019 call for applications to join existing ERNs. On 14 January 2022, the European Commission adopted the second 2022 EU4Health work programme, giving a budget of €26 million to the 24 ERNs (€1,083,333 each). This will support specialised healthcare for rare diseases, clinical practice guidelines and clinical decision support tools, education and training (including our webinar and exchange visit programmes), research, our patient registry, and virtual multi-disciplinary consultations using the Clinical Patient Management System.

Lecture by Patient Advocacy Group

Patients are at the heart of everything the ERNs do, with a mission to “Share. Care. Cure.” In a lecture on “Penile cancer – the way forward?” our European Patient Advocacy Group (ePAG) will give an overview on their new initiatives. The speakers are advocates John Osborne (GB) and Kenneth Manzie (GB), and male cancer information nurse specialist Rob Cornes (GB).

Penile cancer affects around 36,000 men globally each year. Due to its rarity, it is often difficult to provide a level of peer and psychosocial support following treatment, comparable with more common cancers. Working in conjunction with ERN eUROGEN the above ePAG advocates have provided a perspective of the patient journey and highlighted key areas of improvement.

In addition, a new global penile cancer steering group is being developed, made up of allied health care professionals and survivors from around the world. The aim of this group is to create a global network and resource for information and virtual support, for anyone who has been affected by the disease or who is working within the field of penile cancer.

ERN eUROGEN has also organised lectures for their three workstreams, each encompassing several expertise areas:

Workstream 1 - Paediatric: Rare congenital urorectogenital anomalies and their transition to adult follow-up

Dr. Giovanni Mosiello (IT) will present a lecture on “Congenital neurogenic bladder dysfunction – What the adult urologist needs to know.” He will look at the causes of neurogenic bladder dysfunction (NBD) in children and adolescents, which are different to causes in adults.

Spinal dysraphism (SD) is the most common cause, with defects such as occult SD and myelomeningocele. NBD in SD is variable and may occur at any time; in occult SD, most cases present later, in adolescence, with back pain, absence of perineal sensation, and lower urinary tract dysfunction. Other causes of NBD include sacral agenesis or caudal regression syndrome, often associated with anorectal malformation (ARM). ARM may occur as an isolated malformation or with other malformations (e.g., VATER/VACTERL association) and both bowel and bladder dysfunctions may be present. NBD is observed in cerebral palsy or Down syndrome but is often misdiagnosed or dismissed because of coexisting disabilities. NBD is reported in other genetical syndromes as Williams-Beuren and in congenital muscular dystrophies.

Due to the increased life expectancy of all these children, and considering acquired forms of paediatric onset (trauma, infection, iatrogenic), adult urologists must be aware that patients with paediatric NBD, who require lifelong supervision, will increase in the future.

The EAU and ESPU guidelines are helpful, but tailored guidelines for each pathology would be useful in these rare and complex diseases, particularly for surgery and defining specific transitional care programmes with a multidisciplinary approach, using cross-ERN activities.

Aetiology, incontinence score, fistula size, and timing of surgery are not correlated with successful VVF repair, although size is strictly associated with the length of the fistulous tract. When bladder reconstruction is necessary, the abdominal approach allows a definitive cure even in the most challenging cases and an extraperitoneal trans-vesical approach is safe and successful in most cases. Maximal results can be expected in centres of experience on the first attempt in a previously non-treated patient. When properly performed, minimally invasive techniques such as laparoscopy or robotic surgery can reduce the invasiveness of the traditional approach. The key to success is the standardisation of surgical key points based on experience and the centralisation of care in referral centres, connected in international networks of expertise such as ERN eUROGEN.

Workstream 3 - Rare urogenital tumours

Assoc. Prof. Hans Langenhuijsen (NL) will present a lecture on “Expansion of the network with tremendous opportunities for rare urogenital tumours.” He will show that oncological treatment is optimised by the cross-border sharing of clinical knowledge, specialist education involving both experts and patient representatives, and research activities on large patient populations.

These cancers have an annual incidence of < 5:100.000 and present a challenge to clinical management and research. At present, ERN eUROGEN covers four rare cancer expertise areas: penile cancer, testicular cancer, adrenal tumours, and abdominopelvic sarcoma.

In 2021, ERN eUROGEN included 29 full-member and 16 affiliated partner healthcare providers across 19 EU Member States (MS). Ten of the healthcare providers, one patient organisation and two supporting partners (EAU and ESPU) were actively involved in rare urogenital tumours. The cumulative patient population was 10,000 and the annual number of new patients increased from 484 in 2013, to 1,377 in 2020. Three live educational webinars were broadcast, and eight publications appeared in peer-reviewed journals in 2019-2020. Due to the COVID-19 pandemic, the annual number of new patients flattened, and the UK’s exit from the EU resulted in the withdrawal of six members in 2019. Fortunately, the 29 new full members are now being integrated, which expands the network to 57 healthcare providers in 20 MS.

This offers tremendous opportunities for creating large long-term registries facilitating research and clinical guideline development. The ERN eUROGEN registry went live at the beginning of 2022 and the healthcare providers in the network are beginning to seek informed consent from their patients to include their data in the new registry. Furthermore, new initiatives aimed at improving patient care, such as cross-ERN collaborations, will be explored.

COVID-19 impact

As mentioned previously, the coronavirus pandemic has impacted healthcare systems worldwide and brought elective surgical activity to a minimum. During the ERN eUROGEN Special Session, Prof. Magdalena Fossum (DK), on behalf of her co-authors across Europe, will present “The COVID-19 Pandemic: Patient impact in 10 European centres for urorectogenital care.” Her presentation will give insight into the effect of changes in health care prioritisations on paediatric urology waiting lists, and how European centres dealt with the challenge in terms of logistic and financial prioritisations.

Ten European centres participated by gathering waiting list data for predetermined procedures over a one-year period, starting March 2020. Centres were surveyed at three-month intervals about operating room capacity and funding. Retrospectively, centres reported on total surgery and outpatient activity from 2019-2021. Outcome measurements and statistical analysis were based on waiting list tendencies, in both numbers of patients and time waiting.

The authors found a decrease in surgery and outpatient activity in spring 2020. Some paediatric urology centres were able to increase their budget (15%) and staff working hours (20%) during part of the study period. However, all centres increased the total number of patients waiting (11%), and accumulated days on waiting lists (73%), yielding a total of 6,102 accumulated waiting days in the study population. These results add to the ongoing debate about the morbidity and negative socioeconomic effects on paediatric urology patients and their caregivers in future healthcare crises.

Panel discussion

To finish the Special Session, all presenters will take part in a panel discussion giving their views on “Rare Diseases in 2030.”

ERN eUROGEN will also be present in the EAU22 Exhibition Centre with a shared stand at the EAU booth. Please do come to this fascinating Special Session and if you have any questions, then come and chat with us at the stand. In the meantime, for further information about the network, please visit our website: www.eurogen-ern.eu

Update on rare and complex urology ERN eUROGEN

Date: Sunday 3 July, 15:45 - 17:15 Location: Orange Area, Room 2 Chairs: M. Battye, Nijmegen (NL) W.F.J. Feitz, Nijmegen (NL)

15:45 - 15:55 Programme manager presentation Update on ERN eUROGEN developments 15:55 - 16:10 ERN Patient Advocacy Group (ePAG) lecture Penile cancer: The way forward? 16:10 - 16:25 Workstream 1 (rare congenital uro-recto-genital anomalies) lecture Congenital neurogenic bladder dysfunction: What the adult urologist needs to know 16:25 - 16:40 Workstream 2 (functional urogenital conditions requiring highly specialised surgery) lecture Vesico-vaginal fistula: Management strategies and keys to successful treatment 16:40 - 16:55 Workstream 3 (rare urogenital tumours) lecture Expansion of the network with tremendous opportunities for rare urogenital tumours 16:55 - 17:05 The COVID-19 pandemic Patient impact in 10 European centers for uro-rectogenital care 17:05 - 17:15 Panel discussion Presenters’ views on rare diseases in 2030

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EAU Members: collect your EAU Pocket Guidelines at the EAU Booth D60

European Association of Urology Guidelines

2022 edition

European Association of Urology Guidelines

2022 edition

The distribution of the EAU Pocket Guidelines 2022 edition is sponsored by JANSSEN PHARMACEUTICA NV. EAU Members can collect a free copy during the congress in Amsterdam (this does not apply to online only members). First come, fi rst served; limited copies available. Disclaimer: No infl uence of JANSSEN PHARMACEUTICA NV was exerted on the scientifi c content of this publication.