Frequently Asked Questions

All about ERN RARE-LIVER

Our mission is to improve the care of rare liver disease patients throughout Europe.

The European Reference Network for Rare Liver Diseases (ERN RARE-LIVER) is a network of expert medical centres, which was founded by the European Commission in 2017. It is one of 24 ERNs that focus on different groups of rare diseases in Europe.

The aim of ERN RARE-LIVER is to bring together liver specialists of various expertise as well as other healthcare practitioners and patient representatives. Thus, we compile the knowledge and experience of liver specialists across Europe and aim to make expert treatment available to every patient. Presently, more than 50 university hospitals from 15 EU countries are full members of the network, and an additional 30 centres from 13 other countries are associated with the network through partnerships. All of them work closely together.

ERN RARE-LIVER in all its activities tries to integrate the patients` perspective and involves patient organisations and their representatives at all levels. More than 40 different patient organisations are affiliated with the network. All working groups include patient representatives, as does the governing management board of ERN RARE-LIVER. 

For people with rare diseases, it may be very difficult to receive a timely and correct diagnosis and to gain access to the necessary, often very individual treatment options. In the European Union, a disease is considered rare if it affects no more than 5 in 10,000 people. This corresponds to a disease frequency of less than 0.05 percent of inhabitants of a country, which means that even the average specialist probably has never seen the corresponding clinical picture before and may have no personal experience in diagnosing and managing the condition. Therefore, sufficient expertise regarding rare diseases can often be found at few specialised centres. ERN RARE-LIVER aims to give every patient with a rare liver disease access to such specialised knowledge, in order to improve the diagnosis and therapy of these rare diseases.

Primarily, ERN RARE-LIVER helps to improve care by developing training, education and guidance for doctors both within the member centres of the network as well as the general medical public, therefore improving the knowledge base for expert care. In addition, experts within ERN RARE-LIVER offer individual consultation for difficult cases in a secure online platform. Furthermore, ERN RARE-LIVER provides information directly to the patients. Disease specific information on our website, information leaflets in many European languages, as well as patient directed videos and webinars deliver knowledge to affected people and their families.

An important service that the network offers is specialist advice to physicians regarding difficult and complex cases. This is carried out via interdisciplinary case discussions using a data-secured online tool, called CPMS (Clinical Patient Management System). For this purpose, the treating doctor should contact one of the member centres, which can then initiate the consultation with some of the best specialists across Europe for the respective problem. To date, more than 500 patients with particularly complex problems in rare liver diseases have already been helped using this service.

The most common disease types currently covered by the network include:

  • Autoimmune liver diseases 
  • Metabolic diseases, Biliary Atresia and related diseases 
  • Structural and vascular liver diseases 
  • Rare liver diseases in pregnancy

See the complete list of rare liver diseases that ERN RARE-LIVER focuses on.

  • Improving timely diagnosis of people living with rare liver diseases
  • Developing evidence-based clinical guidelines
  • Recording patient outcomes in disease-specific prospective registries
  • Determining knowledge gaps and unmet clinical needs that require further research
  • Defining healthcare pathways to facilitate access to specialist clinical knowledge for patients and their families living throughout the EU
  • Training of young clinicians in aspects of rare liver diseases
  • Empowering the patient community to engage with their clinical care and voice their needs

          Improving Clinical Knowledge: ERN RARE-LIVER aims to enhance the understanding of rare liver diseases among healthcare professionals by developing and disseminating best practice guidelines, facilitating knowledge sharing and by encouraging clinical research.

•         Enhancing Patient Care: By promoting standardised approaches to diagnosis and treatment and by introducing quality control measures, the network strives to elevate the quality of care provided to patients with rare liver diseases.

•         Collaboration and Innovation: ERN RARE-LIVER fosters collaborations among clinical centres, research centres, physicians and patient organisations, leveraging innovative IT solutions to facilitate communication and access to expertise across Europe.

The training of our junior doctors and the development, coordination, and implementation of clinical guidelines are the most important tools for ensuring Europe-wide standardisation of care for patients with rare liver diseases.

Beyond this, ERN RARE-LIVER provides patients with relevant and high-quality information about rare liver diseases on the website and through the development of training videos, flyers and posters, empowering them to better understand their condition and participate in their care.

ERN is addressing all types of rare liver disease.

The most common disease types currently covered by ERN RARE-LIVER include:

  • Autoimmune Liver Diseases (AILD)In these conditions, the immune system mistakenly attacks the liver and bile ducts.
  • Metabolic, Biliary Atresia, and Related Diseases: This category includes disorders affecting liver metabolism, as well as congenital conditions like biliary atresia, where bile ducts are absent or blocked.
  • Structural Liver Diseases: These encompass a range of abnormalities affecting the structure of the liver such as cysts, tumours, and vascular malformations.
  • Rare Liver Diseases in Pregnancy: Female patients with rare liver diseases who become pregnant require specialised management due to the unique physiological changes occurring during this time. Furthermore, few other rare liver diseases occur only during pregnancy. 

See the complete list of rare liver diseases that ERN RARE-LIVER focuses on.

Structure & Governance

The present coordinator of ERN RARE-LIVER is Professor Ansgar W. Lohse, University Medical Centre Hamburg-Eppendorf, Hamburg, Germany. The central administration office is based in Hamburg, and is available to all members and partners to support with advice, assistance and services.

The backbone of the network currently consists of a number of disease working groups focused on individual rare liver diseases, and cross-sectional working groups, covering comprehensive topics such as quality of life or transitional care from paediatric to adult health services. The working groups more or less include a number of both paediatric and adult specialists, patient representatives as well as young fellows.

Current topics, enquiries and developments within and outside the network are discussed during regular management board meetings. This board oversees all activities of the network and ensures effective coordination and management of resources.

The highest-level decision body of the ERNs is the Network Board, which consists of one representative of each member centre, and thus serves like a parliament of the ERN. The Network Board in particular votes on the inclusion of new members and possible exclusion of current members. The Network Board, together with further representatives of the member centres, patient groups and the working groups, meet once a year at the annual on-site meeting, and about 2 – 3 times per year in online-meetings. 

Each working group has a leadership team usually consisting of an adult and paediatric specialist, two patient representatives and one junior fellow. Working group leads are elected by the working group members and appointed by the coordinator usually for three years with the option of a second term in office.

 

In addition, there are other overarching structures such as the CPMS (Clinical Patient Management System) platform, in which doctors from various member centres across Europe can participate in discussing particularly complex cases of rare liver diseases and share their expertise.

Another overarching structure of ERN RARE-LIVER is the prospective registry R-LIVER. It started by including patients with autoimmune liver diseases such as autoimmune hepatitis (AIH), primary biliary cholangitis (PBC) and primary sclerosing cholangitis (PSC), but also structural liver diseases such as polycystic liver disease, vascular liver diseases and biliary atresia. The registry is constantly expanding and further rare liver diseases will be included in the future.

ERN RARE-LIVER is funded by grants from the European Commission. 
Comprehensive financial support for all 24 ERNs has been secured through agreements between the Member States, the European Parliament and the European Commission. The Health and Digital Executive Agency (HaDEA) currently oversees the management of ERN grants and supervises the correct use of the grant money and the fulfilment of the deliverables agreed upon in the grant agreement. 

The grant is solely dedicated for coordination of the network and network activities, but does not fund the networks medical experts, patient representatives or other contributors to the network. The member centres have to fund their services in the field of rare liver diseases from their institutional funding, as healthcare in Europe is under the auspices of national or even regional governments, including financial responsibility.

Patients

There are three levels of specialist services offered by ERN RARE-LIVER: 

  • We provide general information on many rare liver diseases on our website as well as some explanatory videos both on the website and on YouTube;
  • On our website all member centres, affiliated partners and collaborative partners are listed. These hospitals offer specialist services for many rare liver diseases;
  • For highly complex or difficult cases, ERN RARE-LIVER can provide expert advice on the basis of a multidisciplinary international case discussion in the secure Clinical Patient Management System (CPMS). 

ERN RARE-LIVER focuses on rare liver diseases only. However, all member centres of the ERN have specialist hepatology departments that also have major expertise in common liver diseases.

ERN RARE-LIVER welcomes patient participation in its activities. To ensure that the patient’s voice is heard in the decision-making process, ERN RARE-LIVER includes patients and patient advocates in its working groups and activities. Active participation is best based on some basic training as a patient representative, as the role is to try to speak on behalf of all affected patients. EURORDIS (The European Organisation for Rare Diseases) acts as the overarching patient organisation in Europe, coordinates training and coaching for patient advocates and has founded the European Patient Advocacy Group (ePAG).

If you are interested in joining the European Patient Advocacy Group (ePAG) of ERN RARE-LIVER as a patient representative, our ePAGs can help you. Your patient organisation should fulfil certain criteria listed on our website.

Click here to find a patient organisation in your country.

In February 2022, an ERN RARE-LIVER Youth Panel was founded as results of a workshop addressing the needs of young patients transitioning from paediatric to adult care. The Youth Panel aims to improve the care for adolescents and young adults, and to strengthen services for this vulnerable patient group. Together with the ERN RARE-LIVER Transition Working Group, the Youth Panel hopes to lobby for better services for young liver disease patients and more research to address the needs of young liver disease patients.

Clinical practice guidelines (CPGs) are systematically developed statements which guide healthcare professionals in clinical management of a specific clinical circumstance. They usually address one particular disease or a closely related disease group. CPGs are typically based on a thorough review and evaluation of the available evidence, which is condensed into recommendations regarding the most effective and appropriate approaches to diagnosis, treatment, and management of various medical conditions. Recommendations of CPGs are discussed between experts until a consensus is reached, which marks a new standard of care.

CPGs often include recommendations on diagnostic criteria, treatment options, drug dosages, therapeutic monitoring, and other aspects of patient care. They are designed to standardize and improve the quality of care by offering evidence-based guidance that reflects the current state of medical knowledge and best practices.

Clinical Patient Management System (CPMS) is a secure web-based application to support ERNs in the diagnosis and treatment of rare diseases or conditions, across national European borders.
CPMS is a secure Software as a Service (SaaS) that enables healthcare professionals to enrol and discuss patients using comprehensive data models. Healthcare professionals can use CPMS to collaborate actively by virtual consultations within and across ERNs.

CPMS is not directly accessible to individual patients. If you are a patient or parent of a patient and would like to have more information on CPMS or a virtual consultation, click here.

The R-LIVER registry is a secure database that collects and stores information about individuals with rare liver diseases. The diseases that are currently represented in the R-LIVER are autoimmune liver diseases, vascular and metabolic liver diseases and biliary atresia. 

The purpose of the data collected is to help researchers and healthcare providers understand disease patterns, treatment response and prognosis of rare liver diseases. In the long-term, this data will help to allow quality control of patient management, will improve treatment approaches and enhance patient care. The data is stored in a pseudonymised fashion respecting strict European data protection standards. R-Liver registry data will be regularly undergo careful scientific evaluation and the results will be published, therefore contributing to knowledge and allowing to improve the care of patients with rare liver diseases, both within the EU and beyond. 

You can find further information such as project leaflets, ethical protocols, user guide, as well as a video explaining how to use the registry on our website.

The liver has an enormous number of different functions within the body. It is the key organ for energy metabolism. Like a factory, the liver is the central organ to produce proteins including essential enzymes. As the central metabolic organ, it transforms our nutrition into building blocks for our body. It has essential tasks in detoxifying the body, storing energy reserves and vitamins, and producing blood proteins, bile, defence substances and starting products for hormone production. Important components of the immune system are also located in the liver. These are primarily cells that serve to fight off germs such as bacteria or viruses, but they are also important for the balance of the immune system throughout the body. A well-functioning liver is therefore essential for the health of every human being.

Health Care Professionals

The European Reference Network for Rare Liver Diseases (ERN RARE-LIVER) is a network of expert medical centres for the diagnosis and treatment of affected individuals, both children and adults, which was founded by the European Commission in 2017. 

If you would like to participate in ERN RARE-LIVER as a healthcare professional, and your medical centre is a member of ERN RARE-LIVER, you can ask the ERN representative at your medical centre how to join. 

A good option would be to participate in a working group in which hepatologists, paediatricians, and patient representatives work together to improve the care of patients. Working groups address both straight-forward patient needs such as developing information leaflets or creating patient or physician videos. Working groups also have ambitious aims in fostering clinical research and setting standards by the development of well-founded position statements and clinical practice guidelines.

As a hospital, you can only participate if you are a designated member centre of ERN RARE-LIVER. Click here to find the list of our designated member centres. At the present time there is no opening for new member centres. At some time in the future there may be a new call for member centres by the European Commission. Like in the past, appointment will then be on the basis of strict criteria. Appointment can only be considered if the national (and regional in some countries) health ministry formally supports the application.

For selected specialist centres that are presently not members or partners of ERN RARE-LIVER, there is the possibility to become a collaborative partner by appointment through the ERN management board and approval by the ERN Network assembly. These appointments are limited, as the network has already grown to a considerable size. Further information on collaborative membership can be found here.

Doctors can access information and resources on rare liver diseases via the network's dedicated website. 

The website is structured into a section for patients and another for doctors. Here, doctors will find disease-specific information about rare liver diseases and leaflets that can be downloaded. Videos on rare liver disease are also provided on the website. In particular, recordings of training webinars offer updated information on the diagnosis and treatment of particular rare liver diseases.

Further resources on our website include clinical guidelines, diagnostic algorithms, treatment protocols, and opportunities to enhance medical education and professional development.

In addition, the website contains information how to access the clinical consultation tool CPMS (Clinical Patient Management System). 

We have set up the ERN RARE-LIVER ACADEMY to expand and deepen the education of medical fellows with an interest in rare liver disease. The Academy is an annual event by application only. The number of participants is limited to about 20-30 per Academy. The topics of the Academy alternate between more paediatric and more adult centred issues of rare liver diseases every second year. The Academy is organised by the faculty of one of our member centres with contributions by other ERN specialists. There will be a yearly call for applications. For further information click here.

Clinical Patient Management System (CPMS) is a secure web-based application to support European Reference Networks in the diagnosis and treatment of diseases or conditions across national borders.
The network uses this digital platform to aid clinicians with remote access to expert knowledge, and to promote collaborations and consultations between healthcare professionals, regardless of their geographical location with the EU.

Clinicians within the network can upload information and data of individual cases to CPMS (such as laboratory values, imaging files, etc.) which they would like to discuss with other experts. For technical support you can contact the CPMS helpdesk of ERN RARE-LVIER. Clinicians outside the ERN with a special request should either contact their regional ERN member centre, or can otherwise send a request for possible guest access to the CPMS helpdesk.

By updating and disseminating clinical guidelines, ERN RARE-LIVER promotes standardised approaches to the diagnosis, management, and follow-up of rare liver diseases, and encourages consensus building conversations between experts. Standardisation of care helps ensure consistency and quality across different healthcare settings and geographical regions, improving outcomes for patients with rare liver diseases.

The standard of health care is not yet equal throughout Europe. Clinical practice guidelines may be issued by national societies or international organisations. Inconsistencies between national and international guidelines may occur, i.e. international guidelines may not be compatible with local procedures and amenities. ERN RARE-LIVER combines multiple perspectives and the practical experience of many different nations in its network and can leverage these to adapt or harmonise guidelines to ensure the best possible care throughout Europe.

Patient Organisations

Improving patient care is at the heart of ERN RARE-LIVER, and patient involvement is integral to the management of the network. We have patient representation within our governance structure and we aim to involve as many patient organisations and representatives as possible in our Patient’s Forum. The Patient’s Forum is a virtual place for interaction and information exchange specifically designed to enable patients and patient organisations to interact with the work of the network. 

In addition to ensuring that the patient’s voice is heard, one of the major aims of ERN RARE-LIVER is to develop patient information leaflets building on best practices of healthcare for rare liver diseases across Europe. The content, style, and language will be targeted to the specific needs of patients within the countries covered by the expert centres within ERN RARE-LIVER. 

We welcome patient representatives to join our working groups on behalf of their organisation.

A list of patient organisations can be found on our website.

If you would like to be included in this list, please contact the ERN RARE-LIVER office at ERN.RareLiver@uke.de