European Reference Networks
How will European Reference Networks help patients?
An unfortunate feature of rare diseases and complex conditions is the scarcity and fragmentation of specialist knowledge, which is often not available in the patient’s region or country. Many patients therefore do not find a satisfactory explanation for their symptoms or the necessary knowledge on treatment options.
ERNs are not directly accessible to individual patients. However, with the patients’ consent and in accordance with the rules of their national health system, patient cases can be referred to the relevant ERN member in their country by their healthcare provider.
European Reference networks and UMC Utrecht
European Reference Networks on craniofacial anomalies and ENT disordersCongenital craniofacial anomalies include children born with underdeveloped or maldeveloped parts of their brain, skull and/or face that result in significant functional problems and psychosocial challenges. Patients require follow-up and treatment from birth into adulthood. Clinical and public knowledge of many of these presentations is low, and diagnosis can be extremely challenging.
This ERN addresses several gaps in care by significantly improving familiarity of primary caregivers with craniofacial anomalies. The network is developing instructional courses on numerous conditions to be made available through an open access website.
By collecting data on long-term outcomes of the various conditions, the network will aid in counselling patients and parents and can direct the focus of treatment to areas that have received too little attention. The network will support the detection of new causative genes by increasing the numbers of participants in research studies.
For more information about this ERN: https://www.ern-cranio.eu/
European Reference Network on epilepsiesEpilepsy affects at least 6 million people in Europe. Traditional antiepileptic therapies help between 60 % and 70 % of those affected to remain seizure free. For patients suffering from refractory epilepsy, the clinical outlook is poor.
The network aims:
- to deliver full access and utilisation of pre-surgical evaluation and epilepsy surgery;
- to increase diagnosis of rare causes of the epilepsies;
- to enhance identification of patients with treatable rare causes of the epilepsies;
- to increase access to specialised care for rare causes;
- to foster research on innovative causal treatments in rare and complex epilepsies.
More information about the network: https://www.epi-care.eu/
European Reference Network on kidney diseasesRare and complex kidney diseases comprise a wide range of congenital, hereditary and acquired disorders. It is estimated that at least 2 million Europeans are affected by rare kidney diseases.
This ERN will seek to improve standards of diagnosis and treatment across Europe. The network will establish a consensus on rational diagnostic algorithms for patients presenting with signs and symptoms of renal disease, including standard criteria for genetic testing in cases of suspected hereditary kidney disease.
Online consultation services will improve management of new and complex cases. Access to a virtual consultation board will be complemented by administrative measures to facilitate patient travel to specialised centres where necessary.
More information about this network: https://www.erknet.org/
European Reference Network on inherited and congenital abnormalitiesThis network addresses congenital malformations and diseases that appear early in life and require multidisciplinary care and long-term follow-up, and examines the transition to adulthood.
For some of these rare diseases, mortality rates can be as high as 50 %. This network aims to improve the quality of care that patients receive and to reduce the long-term impact of these rare diseases in infants. The network will facilitate research collaborations with the power to develop evidence-based clinical guidelines.
For more information about this network: https://www.ern-ernica.eu/
European Reference Network on respiratory diseasesComplex lung diseases require multidisciplinary care along with psycho-social support. This complexity can be due to the underlying genetic mechanism of the disease, the secondary changes and damage done to other organ systems. Early diagnosis and access to specialist care can improve
outcomes for many of these conditions.
The network seeks to improve expertise across Europe to advance standards of care, quality of life and prognosis across the spectrum of rare pulmonary diseases.
ERN-LUNG provides patients with access to the interdisciplinary teams, providing online second opinions on complex cases without requiring patients to travel.
For more information about this ERN: https://www.ern-lung.eu/
European Reference Network on haematological diseasesHaematological diseases involve abnormalities of blood and bone marrow cells, lymphoid organs and coagulation factors, and almost all of them are rare.
Diagnosis of rare haematological diseases (RHDs) requires considerable clinical expertise and access
to a broad range of laboratory services and imaging technologies. These tests allow precise disease classification according to WHO criteria using international scoring systems and, where possible, biomarkers. Given these requirements and the fact that some RHDs are very rare, diagnosis is requently overlooked or delayed, especially in elderly patients. Treatment is also often difficult due to the specialised infrastructures and teams required and the difficulty accessing specific treatments such as allogenic stem cell transplantation or coagulation factors. Preventive programmes are in place in some countries for certain conditions, but there is an urgent need for harmonisation in the field of screening.
This ERN will seek:
- to improve access to healthcare for RHD patients;
- to promote guidelines and best practice; to improve training and knowledge- sharing;
- to offer clinical advice where national expertise is scarce;
- and to increase the number of clinical trials in the field.
For more information: https://www.eurobloodnet.eu/
European Reference Network on neuromuscular diseasesNeuromuscular diseases (NMDs) occur from early childhood to late adulthood and are characterised by muscle weakness and wasting, but may be associated with other symptoms. Most NMDs are progressive and debilitating, with reduced lifespan and quality of life.
There are significant gaps and disparities in access to diagnostics and treatment across Europe. Major challenges in improving outcomes include the delay in referral from primary care to a specialist centre, and managing the transition from paediatric to adult services.
ERN EURO-NMD unites Europe’s leading experts to provide patients with access to specialist care through virtual and in-person consultations. The network aims to reduce time to diagnosis by 40 % in its first 5 years, to improve diagnostic yield by 15 % and to increase access to appropriate care pathways.
More information about the network: https://www.euro-nmd.eu/
European Reference Network on hereditary metabolic disordersRare inherited metabolic diseases (IMDs), of which there are more than 700, are individually rare but collectively frequent. Many metabolic diseases have severe, sometimes life-threatening, implications for patients.
Early diagnosis can improve outcomes but only 5 % of known IMDs are currently included in newborn screening programmes in Europe and there is a need for harmonisation of national programmes. For many of these conditions, knowledge about their natural history, the efficacy and safety of therapies, and longterm follow-up is incomplete.
The network is setting up an inventory of metabolic diseases, developing patient information and training sessions, advancing collaborative diagnosis of new diseases, and establishing a long-term referral point bringing expertise to patients.
It will share knowledge within the network and beyond by expanding to additional regions and countries.
For more information: https://metab.ern-net.eu/
European Reference Network on connective tissue and musculoskeletal diseasesRare connective tissue and musculoskeletal diseases (rCTDs) comprise a large number of diseases and syndromes, with a tremendous impact on patient well-being. These include hereditary conditions, and systemic autoimmune diseases. Delayed diagnosis, particularly for rare or complex presentations, is a common problem.
ReCONNET aims to improve early diagnosis, patient management, care delivery and virtual discussion of clinical cases within the network and with affiliated centres. The use of information technologies (IT) will facilitate interaction between centres. The network will improve scientific knowledge of rCTDs and facilitate the creation of large databases to identify new clinical or biological markers to aid diagnosis.
For more information: https://reconnet.ern-net.eu/
European Reference Network on mmunodeficiency, autoinflammatory and autoimmune diseasesRITA brings together the leading European centres with expertise in diagnosis and treatment of rare immunological disorders. These constitute potentially life-threatening conditions requiring multidisciplinary care using complex diagnostic evaluation and highly specialised therapies.
This network is working to reduce inequalities faced by patients seeking to access diagnostic testing and innovative treatments such as biologic therapies, immunoglobulin replacement, stem cell transplantation and gene therapy.
For more information: https://rita.ern-net.eu/
European Reference Network on transplantation in childrenPaediatric transplantation (PT), both solid organ (SOT) and haematopoietic stem cell transplantation (HSCT), is the only curative procedure for several rare diseases.
Optimal post-transplant care requires the concerted efforts of a multidisciplinary team. After transplantation, patients face chronic immunosuppression to avoid rejection. This requires monitoring for post-transplant complications to extend lifespans and improve quality of life. This network brings together experts in PT and post-transplantation care to improve outcomes for children and their families.
The network aims to reduce hospitalisation time and the use of complex and long-lasting treatments. It is working to improve psychological support services as children transition to adulthood.
This network seeks to reduce the costs associated with transplantation — such as re-transplantation and pharmacological treatments — and is harmonising the PT care to minimise the risks of post-transplantation complications. Together, Europe’s leading PT experts are working to reduce mortality and morbidity related to transplantation in children.
More information: https://www.transplantchild.eu/