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One of the aims of the Directive is to support patients and healthcare-providers when it comes to diagnosing and treating rare diseases. Within the European Union a disease is regarded as being rare if it does not affect more than 5 out of 10,000 people. Rare diseases are frequently chronic and genetic. Because they are rare, it frequently takes years before the correct diagnosis is made and suitable treatment can be provided.
The reference portal Orphanet provides extensive information on rare diseases and allows you to specifically look in a variety of languages for facilities (expert centres) which specialise in caring for this disease in 40 partner countries.
Please enter the name of your disease in the search field on the welcome page in order to carry out a search for a facility that specialises in your disease. You can already use the auto-complete function whilst entering the name of the disease, or you can have a list of possible hits displayed corresponding to your search term. You can also enter abbreviated terms. In both cases, you should then select the specific disease name by clicking on it. Please ensure that you have selected the correct language (top edge of the picture). You can only search for German terms in the DE version, and French terminology will only be found in the FR version, etc.
Once you have clicked on the correct term, a page then opens with information on the selected disease, including a summary, information on the frequency of the disease (prevalences) and much more besides. On the right-hand side of the page, you will find further links under the title “Other information” leading to the available resources for this specific disease. This includes the link to “Expert centres”.
Once you have clicked on this link, all the relevant expert centres from the 40 partner countries involved are shown in a list. A specific facility can be selected by clicking once more, and further details (contact person/contact data) are shown. The list can also be sorted in advance, so that for instance only facilities of a specific country are shown, or you can filter by treated age classes.
The European Commission launched an online Platform on Rare Disease Registration in February 2019. It is intended to merge the data that are divided among approximately 600 individual registers. The establishment of common standards for the collection of data will improve their evaluation. In this way, research is to be promoted and the diagnosis, treatment and quality of life of the patients concerned improved.
The platform is currently still under construction. As a patient, you will soon be able to obtain a great deal of information about your illness via the platform.
The Patients’ Rights Directive is intended to promote cooperation between the Member States with regard to rare diseases and the provision of highly specialised healthcare by establishing “European Reference Networks”. All healthcare providers treating patients with rare diseases are to be informed of the results obtained. It is hoped that this will lead to better, earlier diagnoses for the rare diseases and to more efficient treatment of the patients affected.
The Networks are still in their establishment phase at present. Amongst other things, the European Commission handed down a decision on 10 March 2014 specifying both the criteria which networks need to meet in order to become a European Reference Network, and those which healthcare providers must satisfy if they wish to join such a Network.
The European Reference Networks ultimately constitute a considerable benefit for you as a patient. As soon as the establishment phase of the European Reference Networks has been completed, we will be able to provide you with an overview of them that will enable you to find out whether your healthcare provider is a member of this Reference Network. If he/she is not a member of a Reference Network that is applicable to your symptoms, it would make sense to ask your healthcare provider to what degree he/she cooperates with the Network in question.
We have listed below networks and healthcare providers for the field of rare diseases which are not yet European Networks as such, but which already maintain contacts all over Europe.
The register records children and juveniles with tumours which occur very rarely or which are only very seldom observed among children and juveniles and are not covered by other clinical studies and paediatric oncology registers. STEP is also taking part in the ExPO-r-Net pilot project, which aims to establish a European paediatric oncology Reference Network within three years.
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