[Rare diseases, digitization, and the National Action League for People with Rare Diseases (NAMSE)]. / Seltene Erkrankungen und Digitalisierung im Kontext des Nationalen Aktionsbündnisses für Menschen mit Seltenen Erkrankungen (NAMSE).

People with rare diseases face specific challenges within the healthcare system. Due to the rarity of the individual diseases, both medical care and research are made difficult for structural, medical, and economic reasons. In 2010, the National Action League for People with Rare Diseases (NAMSE) was founded by the German Federal Ministry of Health, the German Federal Ministry of Education and Research, the Alliance for Chronic Rare Diseases, as well as 25 other partners. Since then, NAMSE has been the central coordination and communications platform for people with rare diseases in Germany and aims to improve the health and quality of life of those affected.As part of the consensus process, NAMSE has formulated requirements regarding digitization in the German healthcare system. These requirements aim towards connecting healthcare institutions, generating knowledge for research purposes, and improving the flow of information. The main objective is a collective and secure health data space with interoperable clinic information systems and uniform semantic standards. The precise coding of rare diseases is of particular importance.In the coming years, important processes that have already been initiated must be designed and supported in the interest of people with rare diseases. These include the German genome initiative genomDE, the implementation of the electronic patient record, and activities towards a European Health Data Space. In order for the diverse initiatives and projects to mesh, clear objectives are required as part of an overall digital concept to which NAMSE makes important contributions.

[Patient registries for rare diseases in Germany: concept paper of the NAMSE strategy group]. / Patientenregister für Seltene Erkrankungen in Deutschland: Konzeptpapier der Strategiegruppe "Register" des Nationalen Aktionsbündnisses für Menschen mit Seltenen Erkrankungen (NAMSE).

The National Action Plan for People with Rare Diseases contains 52 concrete actions, including in the fields of care, research, diagnosis, and information management. With the aim of improving the quality and interoperability of national registries in the long term, action 28 proposed the establishment of a "Rare Diseases Registry" strategy group. The strategy group began its work in 2016. In this report, the group takes into account developments at the national and international level in order to develop recommendations for national initiatives.In addition to this, the group reports on consent and implementation as well as on the adaptation of a minimal dataset for use in rare disease registries and mapping the used data elements and schemata in a metadata repository. This position paper was created by the strategy group together with additional authors. The paper reached a consensus within the strategy group and can be seen as a concept paper of the Rare Diseases Registry strategy group.

Rare diseases in Germany - Developments in the status of medical care.

Background: Rare diseases are a heterogeneous group of complex clinical patterns, which more often than not run a chronic course. The fact that they are rare complicates the provision of medical care for the specific diseases. Results: In the field of action titled 'Care, Centres, Networks' of its National Action Plan, the National Action League for People with Rare Diseases recommends the formation of a three-level, interconnected centre model. This form of care was investigated in two large research projects. It was shown that the time to diagnosis was markedly reduced. Commissioned by the Federal Ministry of Health, the expert report on the health status of people with rare diseases in Germany issued in 2023 concludes that the medical care provided to this group of people has improved markedly since the National Action Plan was introduced. The establishment of the Centres for Rare Diseases (ZSE, Zentren für Seltene Erkrankungen) is seen as the most important development. However, it is noted that there is still a lack of coordinated care provision pathways for referring patients to the appropriate facilities. Conclusion: The provision of care to people with rare diseases has improved upon the implementation of the measures from the National Action Plan. In a next step, care provision pathways must be established across sector boundaries. Challenges remain in the area of psychosocial care and the long-term securing of funding for these structures.

Developing new products in cystic fibrosis: needs and obstacles for activities of small and middle-sized companies.

Small and middle-sized enterprises (SMEs) can make important contributions to medical progress through the development of new safe and effective drugs that address the greatest unmet needs of patients. Regulatory inconsistencies across agencies in various countries, however, remain major challenges in cystic fibrosis (CF) drug development. Clear and consistent treatment guidelines, well educated clinical trial sites, a patient registry and grant funding for early development programs are important success-factors for an efficient development process. SMEs developing products for CF need partners in the CF community to assist with disease education and awareness for ongoing clinical trials. SMEs should collaborate and communicate with the CF community in a legally compliant way to take a patient-centric approach to drug design, development and administration. Furthermore, they can help to develop educational tools and fund medical education activities to increase the understanding of the underlying defects and mechanisms of CF disease.

Medical needs of cystic fibrosis patients and policies for fair co-operation between small and middle-sized companies and patient organizations.

BACKGROUND AND METHODS: Workpackage 4 of EuroCareCF brought together a group of small and middle-size companies (SMEs) with strong interest in drug development for cystic fibrosis (CF). The common interest of SMEs and patient organizations (PO) in mutually beneficial cooperation was assessed. This was achieved by identifying critical unmet medical needs of CF patients and by analyzing fields of cooperation between SMEs and POs. RESULTS: Over and above all, finding a cure for the disease is considered the most important unmet medical need by POs. However, preventing or slowing down any further deterioration of health and the alleviation of symptoms are also considered valuable objectives. Areas of co-operation with SMEs include the preparation and conduct of clinical trials and co-operation in the post-marketing authorization period. CONCLUSIONS: If a policy of transparency and respect for the independence of POs is applied, SMEs and POs can develop mutually beneficial and sustainable co-operation.