Collaborations

As per its name, the Joint Action on Integrating ERNs into National Health Systems (JARDIN) aims to improve accessibility to the European Reference Networks (ERNs) by integrating them into national systems. The vision is to put people living with rare diseases or complex conditions at the centre of care and make the care pathway clear and easily accessible.

JARDIN’s activities will include the identification and exchange of best practices, the development of concrete recommendations, guidelines and patient pathways, and toolboxes suited for the needs of all Member States (taking into account the different preconditions, such as size and population, economy, and structure of the respective healthcare system), as well as supporting capacity-building and performing pilot implementation steps on different levels in the Member States in the proposed fields of action.

JARDIN will develop strategies for systematic dissemination of information on the ERNs, with a specific emphasis on people living with rare diseases (PLWRD) as well as the healthcare professionals community.

ERN eUROGEN will work with JARDIN to produce two patient care pathways – one on anorectal malformations and the second in collaboration with Endo-ERN on differences in sex development (DSD)/congenital adrenal hyperplasia (CAH).

Read more:

• JARDIN website
• EURORDIS JARDIN Explainer: “JARDIN 101: The Purpose. The Plan. The Potential”

The members of ERN eUROGEN currently collaborate with the following other European Reference Networks:

ERN ERNICA: The European Reference Network for rare Inherited and Congenital (digestive and gastrointestinal) Anomalies (ERN ERNICA) covers malformations of the digestive system (with working groups for oesophagal diseases, intestinal diseases, intestinal failure and gastroenterological diseases) and malformations of the diaphragm and abdominal wall (with working groups for malformations of the diaphragm and abdominal wall defects).  These disorders have an early manifestation in life and need multidisciplinary care and long-term follow-up.

ERN ERKNet: The European Reference Network for Rare Kidney Diseases (ERN ERKNet) is a consortium of 38 expert pediatric and adult nephrology centres in 12 European countries providing healthcare to more than 40,000 patients with rare disorders of the kidneys.

Endo-ERN: The European Reference Network on Rare Endocrine Conditions (Endo-ERN) aims to improve access to high-quality healthcare for patients with hormonal disorders. Endocrine conditions are often complex and require a long period of care due to chronic disease without being life-threatening. Therefore, endocrine care requires equal distribution of paediatric and adult care.

ERN ITHACA: The European Reference Network for Intellectual Disability, Telehealth, Autism and Congenital Anomalies (ERN ITHACA) meets the needs for highly specialized, multidisciplinary healthcare for patients with rare (multiple) malformation syndromes and rare intellectual and other neurodevelopmental disorders of genetic, genomic/chromosomal or environmental origin, both diagnosed and undiagnosed.

ERN TransplantChild: The European Reference Network for Paediatric Transplantation (ERN TransplantChild) focuses on both Solid Organ Transplantation (SOT) and Hematopoietic Stem Cell Transplantation (HSCT) which are low-prevalence and complex conditions that require highly specialized expertise and resources.  The network helps patients and family members who are going through or have gone through the complicated process of paediatric transplantation and works to improve the care of patients with this condition.

ERN EURACAN: The European Reference Network for Rare Adult Solid Cancers (ERN EURACAN) aims to tackle these complex and rare cancers that require highly specialised treatment and concentrated knowledge and resources.  The management of rare cancers poses significant diagnostic challenges, sometimes with major consequences for patients’ quality of life and outcome. Inappropriate management of these patients may also result in an increased risk of relapse, and risk of death.

ERN eUROGEN’s research strategy aims to harness the collective research potential of all ERN eUROGEN’s healthcare providers and patients. Knowledge sharing will foster innovation and allow new treatments or surgical techniques to be tested and made available to patients where there are gaps in current effective diagnoses or treatments.

ERN eUROGEN’s research activity focuses on its patient registry, but the network also collaborates with other initiatives, as outlined below.

ERICA

The aim of the European Rare Disease Research Coordination and Support Action consortium (ERICA), in which all 24 European Reference Networks (ERNs) participate, is to build on the strengths of the individual ERNs and create a platform that integrates all ERNs’ research and innovation capacity.

Through knowledge sharing, engagement with stakeholders in the rare disease domain and assembly of transdisciplinary research groups working across the global health spectrum, ERICA strives to reach the following goals:

• new intra- and inter-ERN rare disease competitive networks
• effective data collection strategies
• better patient involvement
• enhanced quality and impact of clinical trials
• increased awareness of ERNs innovation potential.

ERICA will strengthen research and innovation capacity by integrating ERN research activities and outreach to European research infrastructures to synergistically increase impact and innovation. This will result in efficient access and safe therapies for patients suffering from rare diseases and complex conditions.

ERN eUROGEN regularly participates in ERICA activities, such as its General Assembly and working group meetings relating to its Work Packages.

EJP RD

The European Joint Programme on Rare Diseases (EJP RD) programme aims to create an effective rare disease research ecosystem for progress and innovation and for the benefit of everyone with a rare disease. They support rare disease stakeholders by funding research, bringing together data resources & tools, providing dedicated training courses, and translating high-quality research into effective treatments.

EJP RD brings together over 130 institutions (including all 24 ERNs) from 35 countries to create a sustainable ecosystem that allows a virtuous circle between research, care and medical innovation.

EJP RD provides funding opportunities, a guide for patients in research, a research translation support office, a clinical studies support office, ethics and regulatory advice, a resource map showing coordinated access to data and services, and a free MOOC (Massive Open Online Course), “Introduction to Translational Research for Rare Diseases”.

ERN eUROGEN has been involved in several successful applications for EJP RD funding, including:

• Two ERN Research Training Workshops on innovative diagnostics and interdisciplinary treatment for spina bifida and other dysraphisms, in March 2022 and June 2023.
• A Research Mobility Fellowship on Urogenital Tumours in 2022.
• An ERN Research Training Workshop on Psychology in Rare Diseases (RARE TOGETHER), from 8-9 May 2023.

ERDERA

The European Rare Diseases Research Alliance (ERDERA) aims to enhance the health and well-being of the 30 million people in Europe affected by rare diseases, positioning Europe as a global leader in rare disease research and innovation.

ERDERA’s ambition is aligned with the UN’s Sustainable Development Goals and the EU’s political priorities, focusing on improving the prevention, diagnosis, and treatment of rare diseases. Its vision is to create a comprehensive multi-stakeholder ecosystem that supports patient-centred research, develops new treatments, and utilizes health data and digital transformation.

ERDERA’s mission involves consolidating research knowledge and resources across Europe, ensuring patient enrollment in clinical studies, and boosting investment to foster innovation, job creation, and competitiveness in the rare disease research sector.

Rare 2030

Rare 2030 was a two-year foresight study funded by the European Commission that gathered the input of over 250 experts from across the rare disease community (patients, practitioners, and key opinion leaders) to propose policy recommendations leading to improved policy and a better future for people living with a rare disease in Europe.

The study resulted in eight overarching recommendations to ensure that the future of the 30 million people living with a rare disease is not left to luck or chance. The eight final recommendations cover diagnosis, treatment, care, research, data, and European and national infrastructures and set out the roadmap for the next decade of rare disease policies.

ERN eUROGEN had three members in the expert group. They attended several virtual meetings of the Rare 2030 “Panel of Experts”, along with many other stakeholders, to validate the trends and drivers that were identified, ranked, and prioritised throughout the year to define possible future trends important for rare diseases. They also contributed comments ensuring that highly specialised surgery was included in the recommendations, along with other important treatment options for patients with rare diseases and complex conditions.

Over the last few years, it has become clear that international organisations are becoming increasingly interested in the innovative ERN model of using secure digital technologies to connect clinical and patient experts on rare diseases and complex conditions with healthcare professionals and patients seeking advice or information.

This is one of the strengths of the ERN model, and the transparent funding from the European Commission means that the products developed by the ERNs (e.g., clinical practice guidelines and clinical decision support tools, publications, and protocols and documents related to registry development, such as Joint Research Centre (JRC) core datasets, informed consent, and data sharing agreements between healthcare providers, etc.) can be shared with other organisations as examples of good practice during collaborative exchanges.  We believe that some “quick wins” are possible through collaborations around the development of the ERN eUROGEN registry.

On 30 November 2022, the European Commission launched the EU Global Health Strategy to improve global health security and deliver better health for all in a changing world, as an external dimension of the European Health Union. The ERNs are waiting to see what this means for them, but one of the aims of the strategy is to expand the EU’s international partnerships on health, which ERN eUROGEN has already been doing through its global collaborative partnerships.

Some examples of these global collaborative partnerships are listed below. Our full Global Collaboration Strategy can be downloaded here. 

CureforU

Since March 2022, a Memorandum of Understanding (MoU) has been signed and in place between ERN eUROGEN and CureforU,  The aims of collaboration are:

• To facilitate healthcare professionals from developed and developing countries to connect, collaborate and learn from each other through CureforU’s digital collaboration portal and share knowledge of best practices gained from using the ERN Clinical Patient Management System (CPMS).
• To deliver faster specialist evaluation and more equitable access to high-quality diagnoses, treatment, and care for patients with rare urogenital diseases and complex conditions who need highly specialised assessment and surgery.
• To cover a wide geographical area of European developed countries and developing countries (e.g., Pakistan, Afghanistan, Ethiopia, Turkey, etc.) and help those lacking technology or expertise by providing high-quality, highly specialised services through knowledge exchange.
• To disseminate relevant knowledge and information and promote each other when appropriate.
• To stimulate and contribute to research activities (where possible).
• To develop, exchange, and disseminate clinical practice guidelines and clinical decision support tools and link and/or add data to patient registries when interoperable and feasible.
• To train and educate urologists and surgeons, including through the CureforU mentorship programme and training courses, through the ERN Academy and ERN eUROGEN videos of highly specialised surgeries, and through the mobility of expertise (where possible).

In June 2024, CureforU celebrated three years of facilitating better cures for rare or complex diseases, specifically anorectal malformations and Hirschsprung’s Disease. Read their three-year journey here.

Confederación Americana de Urología (CAU)

Since May 2023, a Memorandum of Understanding (MoU) has been signed and in place between ERN eUROGEN and the Confederación Americana de Urología (CAU) to collaborate on penile cancer. The aims of the collaboration are to:

• To set up a new penile cancer registry for South America (higher incidence rate than the EU).
• To share registry-related protocols to ensure new registries are interoperable at a technical level because the same core data points are used.
• To exchange knowledge on specific data sets for inclusion related to penile cancer.
• To increase research potential – more patients and comparability between regions.

Murdoch Children’s Research Institute

Since April 2022, a Memorandum of Understanding (MoU) has been signed and in place between ERN eUROGEN and the Murdoch Children’s Research Institute in Melbourne, AU, to form a uro-recto-genital collaborative working group on anorectal malformation (ARM) innovations. The aims of this group are to:

• To set up a new registry for ARMs for Australia and New Zealand. Isabel Hageman, ERN eUROGEN Registry Assistant, is a PhD candidate being supervised jointly by Prof Ivo de Blaauw (Radboudumc, NL), Sebastian King and Misel Trajanocska (MCRI, AU) and this is the aim of her research and thesis.
• To share registry-related protocols to ensure new registries are interoperable at a technical level because the same core data points are used.
• To exchange knowledge on specific data sets for inclusion related to ARMs.
• To increase research potential – more patients and comparability between regions.

RDI & WHO Collaborative Global Network

In December 2019, Rare Diseases International (RDI) signed a Memorandum of Understanding with the World Health Organisation (WHO).

In 2021, the Collaborative Global Network (CGN) Panel of Experts was set up and Michelle Battye, ERN eUROGEN Programme Manager, was invited to contribute to this work. The panel aims to shape international policy on rare diseases, strengthen health systems to address rare diseases, advance Universal Health Coverage (UHC), and create global networks for patients with rare diseases and link them to existing structures in Europe, such as the ERNs.

Now in its third year, the collaboration focuses on developing a common Operational Description for Rare Diseases and laying the groundwork for the CGN and centres of excellence for rare diseases.