National plan for rare diseases: Germany

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The first German National Plan for Rare Diseases was initiated after the founding of the National Action League for People with Rare Diseases (NAMSE) in 2010, a joint initiative of the Federal Ministry of Health (BMG), the Federal Ministry of Education and Research (BMBF), and the Alliance for Chronic Rare Diseases Germany (ACHSE) e.V., the national umbrella organisation for people living with a rare disease, along with 25 other alliance partners. NAMSE’s common goal is to improve the health and quality of life of people with rare diseases in Germany. In order to comply with this, it was first necessary to draw up a national plan that provides concrete actions to ensure long-term improvements in care for those impacted. The plan was published in August 2013 and includes 52 measures across seven fields of action: Care, Centres, Networks; Research; Diagnosis; Registry; Information Management; Patient Orientation; and Implementation.

NAMSE continues to play a central role in monitoring and advancing the implementation of the National Action Plan. It works through a coordinating board and four working groups, fostering collaboration among stakeholders in the healthcare system.

In 2023, an evaluation report commissioned by the BMG highlighted the progress made since 2009, emphasising the reduction in time to diagnosis and the improved medical care for people with rare diseases. The report also identified areas for further development, including the establishment of cross-sector care pathways and the National Registry for Rare Diseases (NARSE), which is currently being established in order to provide comprehensive data on rare diseases in Germany.

Key highlights of the German Rare Disease Strategy

Reliable information

Development of a checklist on “Criteria for Good Patient Information on Rare Diseases” and Publication of such qualified information on selected rare diseases for patients compiled by ACHSE and the Medical Centre for Quality in Medicine (äzq).

SE-ATLAS: Implementation of a web-based information platform that provides an overview of the care options for people with rare diseases in Germany.

Expert advice and national rare disease healthcare pathways

Establishment of Centres for Rare Diseases in a level structure:

Reference Centres for rare diseases: coordinate care, and provide orientation and advice across numerous rare diseases as, well as offer a contact point for undiagnosed patients;
Specific Centres of Expertise for a rare disease or group of rare diseases that provide state-of-the-art healthcare to diagnosed rare disease patients.

Registries

Disease-specific registries can be found in the Institute for Quality and Patient Safety’s registry database.

Scientific research

National research networks dedicated to both basic and clinical research on rare diseases have been supported by the BMBF since 2003. The Eva-Luise and Horst Köhler Foundation (ELHKS) on Rare Diseases provides various funding programmes scholarships for scientists, and hosts an annual research award for exceptional projects in the field.

The BMG established the Innovation Committee in 2016. It has been funding projects that test innovative approaches for statutory health insurance and aim to gain new insights into everyday healthcare. Rare diseases are addressed separately as a topic, but not in respect to a specific budget line.

The role of the German National Alliance for Rare Diseases (ACHSE e.V.)

ACHSE e.V., as a NAMSE founding member and representing people with rare diseases and their families in Germany, has been instrumental in shaping the National Action Plan and is ensuring that patient perspectives are integrated into policy and care initiatives.
https://www.namse.de/
https://www.namse.de/english

Eurordis - Rare Disease Europe

Key highlights of the German Rare Disease Strategy

The role of the German National Alliance for Rare Diseases (ACHSE e.V.)

Relevant resources:

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