Halbach Alexandra, Schnieders Birgit, Knufmann-Happe Karin
Bundesministerium für Gesundheit, Friedrichstr. 108, 10117, Berlin, Deutschland.
Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz. 2017 May;60(5):479-486. doi: 10.1007/s00103-017-2530-0.
It is estimated that four million people in Germany are living with a rare disease; in the EU, approximately 30 million people are affected. All rare diseases are chronic, linked to invalidity and/or restricted life expectancy, and their symptoms are often already manifest in childhood. Some 80% of rare diseases are genetically determined; they can rarely be cured. Furthermore, the pathogenesis of many rare diseases is unknown.In a move to ameliorate the situation of persons with rare diseases, the National Action League for People with Rare Diseases (NAMSE) published the National Plan of Action for People with Rare Diseases containing 52 measures that aim to achieve the desired improvements. More than half of these measures have already been implemented or are currently in the process of implementation. The Federal Ministry of Health is supporting this implementation process with numerous projects.NAMSE has achieved a great deal as a result of the National Plan of Action for People with Rare Diseases, even though not all of the measures included in the National Plan of Action have been implemented. The first results of individual measures are already becoming apparent. In order to achieve long-lasting improvements in the prevention, diagnosis and therapy of rare diseases, initiatives will have to be coordinated in the future as well.The Federal Ministry of Health will be funding the NAMSE Coordinating Office until mid-2018, thus ensuring that NAMSE will remain operational until that time. All of the partners collaborating in the Action League agree on the need for NAMSE, together with its coordinating office, to remain in place. To this end, a structure that keeps the health care situation of persons with rare diseases under observation, that suggests solutions and offers a possibility for the parties involved to network, is necessary. The question of conducting a legal restructuring of NAMSE in the future that will be sustainable in the long term is currently under discussion.
据估计，德国有400万人患有罕见病；在欧盟，约有3000万人受到影响。所有罕见病都是慢性疾病，与残疾和/或预期寿命受限有关，其症状往往在儿童时期就已显现。约80%的罕见病由基因决定，很少能被治愈。此外，许多罕见病的发病机制尚不清楚。
为改善罕见病患者的状况，全国罕见病患者行动联盟（NAMSE）发布了《全国罕见病患者行动计划》，其中包含52项旨在实现预期改善的措施。这些措施中一半以上已经实施或正在实施过程中。联邦卫生部通过众多项目支持这一实施过程。
尽管《全国罕见病患者行动计划》中的并非所有措施都已实施，但NAMSE已因该计划取得了很大成果。个别措施的初步成果已经显现。为了在罕见病的预防、诊断和治疗方面实现持久改善，未来各项举措仍需协调。
联邦卫生部将在2018年年中之前为NAMSE协调办公室提供资金，从而确保NAMSE在此之前能够继续运作。行动联盟中的所有合作方都认同NAMSE及其协调办公室需要继续存在。为此，需要一个对罕见病患者的医疗状况进行监测、提出解决方案并为相关各方提供建立联系机会的架构。目前正在讨论未来对NAMSE进行长期可持续的法律重组的问题。
