In the European Union, a rare disease is defined as one affecting fewer than 5 out of 10,000 members of the general population. Approximately 80% of rare diseases are genetic in nature.
Patients affected or believed to be affected by a rare disease have the right to access medical in another European Union or European Economic Area (Iceland, Liechtenstein, and Norway) member State and to be reimbursed pursuant to (CE) regulations N° 883/04 and 987/09, even if the diagnosis and/or the treatment received is not available in the patient's State of insurance. However, this type of care in another member State is subject to prior authorization from the patient's home State (S2 form required).
The website www.orpha.net is the online portal for rare diseases and orphan drugs. Its aim is to help promote awareness of rare diseases among patients, their organizations, health professionals, researchers, and the general public. The information available pertains to European Union countries and, more generally, to the countries belonging to the international consortium Orphanet.
Orpha.net provides a number of free services, all of which are fully open-access:
"Maladies Rares Info Services" (www.maladiesraresinfo.org ; 01 56 53 81 36) is an information-providing and support service that specializes in rare diseases. It responds individually and in a non-identifying manner to the questions it receives (by telephone, email, postal mail or live chat) and provides information on:
Article 12 of Directive No. 2011/24 incites the EU member States to create "European Reference Networks" (ENR) that join together existing healthcare providers and expert centers.
On 1 March 2017 the newly established European Reference Networks (ERNs) started their work.
ERNs are unique and innovative cross-border cooperation platforms between specialists for the diagnosis and treatment of rare or low prevalence complex diseases.
24 thematic ERNs, gathering over 900 highly specialized healthcare units from 26 countries, are working together on a wide range of diseases. Joining up of EU's best expertise on this scale should benefit to patients with diseases requiring a particular concentration of highly specialized healthcare in medical domains where the expertise is rare.
620 new approved members joined the existing European Reference Networks (ERNs) in January 2022. A total of 1,500 care units will participate in ERNs in 27 Member States and Norway.
European Reference Networks (ERNs) are virtual networks bringing together healthcare providers across Europe to tackle complex or rare medical conditions that require highly specialized treatment and a concentration of knowledge and resources. They are being set up under the EU Directive on Patients' Rights in Healthcare (2011/24/EU), which also makes it easier for patients to access information on healthcare and thus increase their treatment options.
In practice, ERNs will develop new innovative care models, eHealth tools, medical solutions and devices. They will boost research through large clinical studies and contribute to the development of new pharmaceuticals, and they will lead to economies of scale and ensure a more efficient use of costly resources, which will have a positive impact on the sustainability of national healthcare systems, and on patients in the EU suffering from rare and/or complex diseases and conditions.
The ERNs are supported by European cross-border telemedicine tools, and can benefit from a range of EU funding mechanisms.
ERNs are not directly accessible to individual patients. However, with the patients' consent, and in accordance with the rules of their national health system, a patient's case can be referred to the relevant ERN member in their country by their healthcare provider.
For France, access to ERNs is through the general practitioner for a person outside the rare disease network of expertise or through the doctor in the expert network, who is in charge of the patient. This doctor will refer the patient to a specialised healthcare provider who may seek advice and expertise from the relevant European Reference Network. The ERN will try to provide the best possible information and recommendations to the Health Care Provider so that the latter can actually assist the patient.
The European Platform on Rare Diseases Registration was launched at the occasion of Rare Disease Day on February 28, 2019.
In the EU about 30 million citizens are affected by more than 6,000 different rare diseases. The information about these patients is spread between hundreds of registries across Europe, at national, regional and local levels. The EU Rare Disease Platform aims to collect this information and provide researchers, healthcare providers, patients and policy-makers with a consistent instrument to improve knowledge, diagnosis and treatment of rare diseases. It will make registries' data searchable at EU level and will standardise data collection and data exchange; which will increase the value of each registry and its registration.
This platform will support the work of the European Reference Networks, which were founded on the principle that knowledge should travel, not the patients.
Orphanet (Inserm), Maladies Rares Info Services, Eurordis and Alliance Maladies Rares work with the Fondation maladies rares and AFM-Téléthon to form the Rare Disease platform ("Plateforme Maladies Rares"), located at Broussais Hospital in Paris.