NETWORK

Initiatives that stand up
for the rare

Unser Netzwerk - weitere
Initiativen die sich für
Betroffene stark machen

National Action Alliance for People with Rare Diseases (NAMSE).

NAMSE is a coordination and communication body founded in 2010 by the German Federal Ministry of Health (BMG) together with the Federal Ministry of Education and Research (BMBF) and the Alliance of Chronic Rare Diseases (ACHSE e. V.) to initiate better 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. One of its priority elements is the establishment of a nationwide network of centers for rare diseases (CRDs). As central contact points for patients with unclear and rare diagnoses, reference centers ("type A centers") are to be established at university hospitals, further small "type B centers" will be affiliated.

Centers for rare diseases ("type A centers") have now been established at around 30 university hospitals. However, the implementation of the entire package of measures has repeatedly stalled in the past, as the alliance partners had to struggle for a long time over questions of funding and quality assurance of the CSEs.

Pdf

NATIONAL ACTION PLAN

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Umbrella organisations for self-help

ACHSE e. V.

The Alliance of Chronic Rare Diseases e.V. - 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 its more than 120 patient organisations, ACHSE pools expertise and knowledge in the field of rare diseases and represents their interests in politics and society, in medicine, science and research. Eva Luise Köhler has been patron of ACHSE e. V. since 2005.

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EURORDIS

EURORDIS is a non-governmental patient-driven alliance of patient organisations, representing 961 patient organisations 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 organisations and people living with rare diseases to make their voices heard at the European level.

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Health care research and networks

TRANSLATE-NAMSE

In the care of patients with rare diseases, specialists must collaborate across locations and disciplines due to the often small number of cases. As part of the TRANSLATE-NAMSE project funded by the Innovation Fund of the G-BA, a consortium of university hospitals tested the networking of its centers for rare diseases from 2017 to 2021 by implementing several measures envisaged in the National Action Plan. The scientific evaluation accompanying the project shows that cross-site cooperation has significantly shortened diagnostic paths. 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 hope for genetic evidence of disease causes and more precise treatment options.

The successful collaboration of consortium partners, which are particularly strong in pediatric research, within the framework of TRANSLATE-NAMSE has become the starting point for the development of the integrated care and research network Alliance4Rare.

Final Report T-NAMSE

ZSE-DUO

Patients who present to a Center for Rare Diseases (ZSE) because of a suspected rare disease often suffer from complex symptoms. Quite often the symptoms are accompanied or even caused by psychiatric-psychosomatic diseases. This further complicates the diagnosis.

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 by a new form of care. As part of the project, a dual pilot structure is being introduced in eleven ZSEs throughout Germany. Therefore a specialist for psychiatric-psychosomatic diseases accompanies the clarification of the complaints from the beginning and on a permanent basis in addition to specialists for physical complaints.

The introduction of the new pilot system is intended to enable the correct diagnoses to be made more frequently and more quickly in centers for rare diseases, so that more people can receive suitable therapy earlier. This benefits patients and saves costs.

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Projects in the area of digitization

Use Case CORD-MI

The systematic use of digital health data can help to better understand diseases that have been insufficiently researched so far and to treat them in a more specific manner in the future. For this reason, the Medical Informatics Initiative (MII) has been working since 2016 to digitally connect patient data generated during a hospital stay throughout 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 use case "Collaboration on Rare Diseases" (CORD-MI) is a joint project encompassing the four consortia of the Medical Informatics Initiative, in which numerous German university hospitals and partner institutions are involved. The goal is to improve care and research in the field of rare diseases. It is based 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 consortia.

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OSSE - Open Source Registry System for Rare Diseases

The OSSE (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 organisations, clinicians, researchers and other stakeholders to build patient registries using open source software. This leads to a strengthening of the national registry landscape and follows European principles regarding the establishment of minimum data sets, compliance with data quality standards, etc. (summarized in the EUCERD recommendations on registries).

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DIMDI-SE

In order to routinely code rare diseases specifically, the system of Orphanet codes would have to be used in addition to the ICD-10-GM coding, which is mandatory in outpatient and inpatient settings. Thus, two systems would 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 designed for 3 years, and was extended until October 2019 under the project name "Coding of Rare Diseases II". Funding is provided by the German Federal Ministry of Health (BMG).

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