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Initiatives that advocate for the rare

Nationale Alliance for people with rare diseases (NAMSE)

NAMSE is a coordination and communication body that was founded in 2010 by the Federal Ministry of Health (BMG) together with the Federal Ministry of Education and Research (BMBF) and the Alliance for Chronic Rare Diseases (ACHSE e. V.) in order to improve care for patients with rare diseases. In 2013, the 28 alliance partners presented a “National Action Plan” consisting of a total of 52 individual measures, which provides for the establishment of a nationwide networked structure of Centers for Rare Diseases (ZSE) as a priority element. Reference centers (“type A centers”) are to be established at university hospitals as central points of contact for patients with unclear and rare diagnoses, to which further, smaller “type B centers” will be attached.

Centers for rare diseases (“type A centers”) have now been set up at around 30 university hospitals. However, the implementation of the entire package of measures has repeatedly come to a standstill in the past, as the alliance partners have had lengthy debates about the funding and quality assurance of the ZSEs.

National Actions Plan PDF (DE)

Dachverbände der Selbsthilfe

  • ACHSE e. V.

    The Alliance of Chronic Rare Diseases – ACHSE for short – was founded in 2004. It is the umbrella organization of and for people with chronic rare diseases and their relatives in Germany. With more than 120 patient organizations, ACHSE pools expertise and knowledge in the field of rare diseases and represents the interests of all those affected in politics, society, medicine, science and research. Eva Luise Köhler has been the patron of ACHSE e. V. since 2005.



    EURORDIS is a non-governmental patient-driven alliance of patient organizations representing 961 patient organizations from 73 countries. It gives a voice to 30 million rare disease patients across Europe.

    EURORDIS’ goal is to build a strong pan-European community of patient organizations and people living with rare diseases to give them a common voice at European level.


Health services research and networks


When caring for patients with rare diseases, specialists must work together across location and department boundaries due to the often small number of cases. As part of the TRANSLATE-NAMSE project funded by the Innovation Fund, a consortium of university hospitals tested the networking of its centers for rare diseases from 2017 to 2021 by implementing the measures provided for in the National Action Plan. The scientific evaluation accompanying the project shows that cross-site cooperation has significantly shortened diagnostic pathways in particular. TRANSLATE-NAMSE could thus pave the way for the adoption of urgently needed high-throughput diagnostics and case conferences in standard care. Patients with previously uncertain diagnoses can thus hope for the first time for genetic evidence of the causes of disease and more precise treatment options.

The successful collaboration between consortium partners in the TRANSLATE-NAMSE project, who are particularly strong in research in pediatrics, has become the starting point for the development of the Alliance4Rare integrated care and research network.



Patients who present to a Center for Rare Diseases (ZSE) due to a suspected rare disease often suffer from complex symptoms. The symptoms are often accompanied or even caused by psychiatric-psychosomatic illnesses. This makes diagnosis even more difficult.

With the ZSE-DUO project, the participating ZSEs, led by the Center for Rare Diseases Würzburg, want to find out whether the situation can be improved with a new form of care. As part of the project, a dual pilot structure is being introduced in eleven ZSEs throughout Germany. This means that in addition to a specialist for physical complaints, a specialist for psychiatric-psychosomatic illnesses will accompany the clarification of the complaints from the outset and on an ongoing basis.

The introduction of the new pilot system is intended to ensure that the correct diagnoses are made more frequently and more quickly in centers for rare diseases, so that more people can receive appropriate treatment sooner. This benefits patients and saves costs.


Projects in the area of digitalization

Use Case CORD-MI

The systematic use of digital health data can contribute to a better understanding and more targeted treatment of diseases that have been insufficiently researched to date. For this reason, the Medical Informatics Initiative (MII) has been working since 2016 on digitally networking patient data generated during a hospital stay across Germany. The aim is to create a learning, digitally networked healthcare system in which the right person always has the right information at the right time.

The “Collaboration on Rare Diseases” (CORD-MI) use case is a joint project comprising the four consortia of the Medical Informatics Initiative, in which numerous German university hospitals and partner institutions are involved. The aim is to improve care and research in the field of rare diseases. It builds on the Innovation Fund projects TRANSLATE-NAMSE and ZSE-DUO as well as the national DIMDI project “Coding of Rare Diseases” and uses the development status of the Medical Informatics Initiative across all consortia.


OSSE – Open source registry system for rare diseases

The OSSE (Open-Source-Registersystem für Seltene Erkrankungen / Open Source Registry System for Rare Diseases) project, funded by the German Federal Ministry of Health, provides a customizable software solution for SE-specific patient registries.

OSSE enables patient associations, clinicians, researchers and other stakeholders to set up patient registries with the help of open source software. This leads to a strengthening of the national registry landscape and follows the European principles with regard to the establishment of minimum data sets, compliance with data quality standards, etc. (summarized in the EUCERD recommendations on registries).



In order to routinely code rare diseases specifically, the Orphanet identification number system would have to be used in addition to the mandatory ICD-10-GM coding in outpatient and inpatient care. Two systems would therefore have to be used.
Improving the coding of rare diseases and, in particular, simplifying this “double” coding was the aim of the DIMDI project “Coding of Rare Diseases”, an initiative within the framework of the National Action Plan for People with Rare Diseases of the National Action Alliance for People with Rare Diseases (NAMSE). It started in July 2013, was initially set up for 3 years and was extended until October 2019 under the project name “Coding of Rare Diseases II”. It is funded by the Federal Ministry of Health (BMG).


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