Rare Diseases & ERNs
European Reference Networks
European Reference Networks (ERNs) are virtual networks involving Reference Centers across Europe. They aim to tackle complex or rare diseases and conditions that require highly specialised treatment and concentrated knowledge and resources. To review a patient’s diagnosis and treatment, ERN coordinators will convene a “virtual” advisory board of medical specialists across different disciplines, using a dedicated IT platform and telemedicine tools. This way it is the medical knowledge and expertise that travel rather than the patients, who have the comfort of staying in their supportive home environments.
How do ERNs help patients?
Between 6.000 and 8.000 rare diseases affect or will affect an estimated 30 million people in the European Union. Many of these rare diseases cause chronic pain and suffering, and a number of them can be life-threatening. The negative impact on the quality of life of affected patients, many of whom are children, is significant.
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. Consequently, many patients and their families rely on the internet to search for doctors and Reference Centers with the expertise to give them the best possible chance of survival.
By consolidating knowledge and expertise scattered across countries, the ERNs will give Reference Centers access to a much larger pool of expertise. This will result in better chances for patients to receive an accurate diagnosis and advice on the best treatment for their specific condition.
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 Reference Center.
Major opportunities offered by the ERNs for patients
- Optimisation of care pathways for patients with rare disease: diagnosis, management and access to therapy.
- More effective clinical trial designs that consider the very special and unique circumstances of rare disease research.
- Creation of databases/registries/natural histories of patients in a coordinated way.
- Close interaction with family associations which may help logistical challenges associated with conducting trials for small patient population.
- Close interaction among ERNs to integrate expertise needed for clinical trials.
- Possibility of helping Companies to generate new clinical trial designs based on the right choice of the primary and secondary endpoints based on the well characterised patient population followed by the ERN.
- Possibility of generating studies also for ultra rare patients due to the availability of numbers of patients in a coordinated way.
- Protection of patients from not well designed clinical trials.
- Counselling the patients in the understanding the value of the clinical trials.
24 NETWORKS
The process and criteria for establishing an ERN and for selecting its members are set in EU legislation.
The first 24 ERNs were launched in March 2017, involving more than 900 highly-specialised healthcare units from over 300 hospitals in 26 Member States. ERNs work on a range of thematic issues including bone disorders, childhood cancer and immunodeficiency.
| ERN BOND | European Reference Network on bone disorders |
| ERN CRANIO | European Reference Network on craniofacial anomalies and ear, nose and throat (ENT) disorders |
| Endo-ERN | European Reference Network on endocrine conditions |
| ERN EpiCARE | European Reference Network on epilepsies |
| ERKNet | European Reference Network on kidney diseases |
| ERN-RND | European Reference Network on neurological diseases |
| ERNICA | European Reference Network on inherited and congenital anomalies |
| ERN LUNG | European Reference Network on respiratory diseases |
| ERN Skin | European Reference Network on skin disorders |
| ERN EURACAN | European Reference Network on adult cancers (solid tumours) |
| ERN EuroBloodNet | European Reference Network on haematological diseases |
| ERN eUROGEN | European Reference Network on urogenital diseases and conditions |
| ERN EURO-NMD | European Reference Network on neuromuscular diseases |
| ERN EYE | European Reference Network on eye diseases |
| ERN GENTURIS | European Reference Network on genetic tumour risk syndromes |
| ERN GUARD-HEART | European Reference Network on diseases of the heart |
| ERN ITHACA | European Reference Network on congenital malformations and rare intellectual disability |
| MetabERN | European Reference Network on hereditary metabolic disorders |
| ERN PaedCan | European Reference Network on paediatric cancer (haemato-oncology) |
| ERN RARE-LIVER | European Reference Network on hepatological diseases |
| ERN ReCONNET | European Reference Network on connective tissue and musculoskeletal diseases |
| ERN RITA | European Reference Network on immunodeficiency, autoinflammatory and autoimmune diseases |
| ERN TRANSPLANT-CHILD | European Reference Network on Transplantation in Children |
| VASCERN | European Reference Network on Rare Multisystemic Vascular Diseases |
LEGAL BACKGROUND
- Directive 2011/24/EU on patients’ rights in cross-border healthcare;
- Commission delegated decision (annex) listing the criteria and conditions that healthcare providers wishing to join a European Reference Network should fulfil;
- Commission implementing decision (annex) containing criteria for establishing and evaluating ERNs and their Members, and for the facilitating the exchange of information and expertise in relation to the establishment and evaluation of such Networks.
The ERN initiative receives support from several EU funding programmes, including the Health Programme, the Connecting Europe Facility and Horizon 2020.
BOARD OF MEMBER STATES
The ERN initiative is mainly driven by the EU Member States.
The Board of Member states is the formal body in charge of the approval and termination of networks and memberships as provided in the Commission’s Implementing Decision. The Board is comprised of representatives of the 28 EU Members States and the EEA countries.
