Außerklinische Intensivpflege: Umsetzungsprobleme geben Anlass zur Sorge

PCH-Familie e.V und 19 weitere Verbände fordern Nachbesserungen am Intensivpflegegesetz

Am 9. Juni 2023 wurden Dr. Axel Lankenau und Dr. Julia Mattileinen vom Selbsthilfe-Verein PCH-Familie e.V. gemeinsam mit der Tübinger Molekularbiologin Dr. Simone Mayer für einen Therapieansatz für die seltene neurologische Erbkrankheit PCH2a mit dem 15. Eva Luise Köhler Research Award ausgezeichnet.

Mann sitzt in der Mitte eines Strandkorbs, rechts und links sind seine schwerstbehinderten 16 und 18jährigen Söhne

Im Rahmen der Preisverleihung schilderte Axel Lankenau eindrücklich und berührend das Leben mit seinen beiden von PCH2a betroffenen Söhnen Felix und Jonas. Er beschrieb auch die großen Sorgen, die neue Regelungen im Rahmen des Intensivpflege- und Rehabilitationsstärkungsgesetzes (GKV-IPReG) in seiner und vielen anderen pflegenden Familien auslösen. Zahlreiche Rückmeldungen von Betroffenen zeigen, dass Änderungen der Außerklinischen Intensivpflege-Richtlinie zu Rechtsunklarheit, Leistungsverschiebungen und Versorgungsproblemen führen.

Gemeinsam mit 19 weiteren Verbänden macht sich der Verein PCH-Familie für umgehende Nachbesserungen am Gesetz stark, um die Versorgung von Menschen mit Bedarf an Außerklinischer Intensivpflege sicherzustellen.

Das gemeinsame Positionspapier, in dem auf die besorgniserregende Situation aufmerksam gemacht und die gesetzgeberischen Handlungsbedarfe aufgezeigt werden, findet sich hier:

Krankenhausreform: Seltene Erkrankungen nicht vergessen!

Reform als Grundlage für eine nachhaltige Finanzierung der Zentren für Seltene Erkrankungen nutzen

Am 10. Juli 2023 haben sich Bund und Länder auf Eckpunkte für die anstehende Krankenhausreform geeinigt. Mit großem Interesse verfolgt die Eva Luise und Horst Köhler Stiftung diesen Prozess in der Hoffnung, dass die geplante Reform mit einer stärkeren Koordinierung und Konzentrierung der spezialisierten Versorgung zu einer Qualitätsverbesserung insbesondere auch für Menschen mit Seltenen Erkrankungen führt.

Eckpunktepapier: Seltene Erkrankungen finden keine Erwähnung

Im Eckpunktepapier vom 10. Juli 2023 finden die Seltenen Erkrankungen jedoch leider keine Erwähnung. Dabei ist die angedachte Reform mit einer koordinierenden Funktion der Universitätsmedizin und der Finanzierung der notwendigen Vorhaltekosten unabhängig von Fallzahlen hochgradig für das Gebiet der Seltenen Erkrankungen geeignet. Die Struktur einer integrierten Versorgung von Menschen mit Seltenen Erkrankungen ist im vom Innovationsfonds des Gemeinsamen Bundesausschusses finanzierten Projekt TRANSLATE NAMSE von 2017 bis 2020 unter Konsortialführung der Charité – Universitätsmedizin Berlin erprobt worden. Sie wurde nach Evaluation vom Innovationsausschuss zur Umsetzung in der Regelversorgung empfohlen.

Umsetzung der TRANSLATE NAMSE-Strukturen muss endlich erfolgen

Allerdings ist bislang noch keine Umsetzung erfolgt, obwohl ein Konsens des GKV-Spitzenverbands und der Universitätsmedizin als Leistungserbringerin besteht, die Zentren für Seltene Erkrankungen sowohl durch Zentrumspauschalen für die Vorhaltekosten von spezialisierten ärztlichen und nicht ärztlichen Mitarbeiterinnen und Mitarbeitern als auch durch spezielle Hochschulambulanzpauschalen für die notwendige interdisziplinäre und multiprofessionelle Versorgung zu finanzieren. Die Eckpunkte der notwendigen Finanzierung für Fallkonferenzen und Diagnostik wurden im Projekt TRANSLATE NAMSE kalkuliert, und es wurde sogar bereits im Jahr 2020 von Vertretern der Kostenträger formuliert, dass die hier erprobte Versorgung eine „Blaupause“ für das Gesundheitssystem sein könnte.

Grundlage für Finanzierung der Zentren sollte genutzt werden

Die somit lang fällige Finanzierung der Zentren für Seltene Erkrankungen erhält durch die publizierten Eckpunkte der anstehenden Reform in Absatz 2.6 erstmals eine Grundlage:

Durch die Übernahme von überregionalen Koordinierungs- und Vernetzungsaufgaben werden insbesondere Universitätskliniken, aber auch andere geeignete Versorger zusätzliche Aufgaben von besonderer Bedeutung erfüllen. Die Finanzierung dieser koordinierenden und vernetzenden Aufgaben wird nicht aus den ausgegliederten Erlösvolumina der anderen Versorgungskrankenhäuser stammen. Es werden hierfür seitens der GKV zusätzliche Mittel zur Verfügung gestellt“. 

Im Absatz 2.2 und 2.6. werden Bereiche genannt, die von der Deckelung durch das bisherige Erlösvolumen ausgenommen werden (Pädiatrie, Geburtshilfe, Notfallversorgung, Stroke Unit, Intensivmedizin, Spezielle Traumatologie) und es werden hierfür zusätzliche Mittel der GKV in Aussicht gestellt. Wir bedauern sehr, dass hier die Zentren für Seltene Erkrankungen nicht aufgeführt werden, da sie doch ein Alleinstellungsmerkmal der Universitätsmedizin sind und die Kosten für die integrierte hochspezialisierte Versorgung bislang im Erlösvolumen nicht abgebildet sind.

Menschen mit Seltenen Erkrankungen berücksichtigen

Wir appellieren an die politisch Verantwortlichen, die Menschen mit Seltenen Erkrankungen bei der Reform nicht erneut zu vergessen und die integrierte Versorgung in den Zentren als Koordinierungs- und Vernetzungsaufgabe der Universitätsmedizin aufzunehmen und die Vergütung in den Vorhaltepauschalen und Hochschulambulanzpauschalen abzubilden.

Current Call for Proposals: Junior Clinician Scientist for Rare Program (JCS4Rare)

Alliance4Rare and Berliner Sparkassenstiftung Medizin to fund four positions in pediatrics and human genetics, each with 25% research time, at the Charité Universitätsmedizin site as of January 1, 2024.

Rare diseases affect children and adolescents in eight out of ten cases. Their participation in medical progress depends crucially on committed physicians who are dedicated to the balancing act between bedside and laboratory. To prepare researching physicians for the demanding tasks in the field of rare diseases and to provide them with the necessary freedom for scientific work at a high level, the research network Alliance4Rare, initiated by the Eva Luise and Horst Köhler Foundation, also relies on structured Clinician Scientist Programs (CS4RARE). The funding allows participants protected research periods in which they can advance scientific projects on rare diseases, released from clinical tasks.

Junior Clinician Scientists for Rare - young physicians in clinical and research settings

In collaboration with the Berliner Sparkassenstiftung Medizin and the BIH Biomedical Innovation Academy, the Alliance4Rare, a research initiative of the Eva Luise and Horst Köhler Foundation, calls for applications for four positions with 25% research time each for JUNIOR Clinician Scientists for Rare (JCS4Rare) at the Charité Universitätsmedizin site as of January 1, 2024. The call is addressed to applicants who have started their medical training in the fields of pediatrics or human genetics less than three years ago. Further requirements for employment are a completed doctorate and a scientifically sound project outline in the field of rare diseases.   

Curricula with additional training on rare diseases

Participants will be accepted into the BIH Charité ((Digital) Junior) Clinician Scientist program and will additionally receive further training and networking opportunities tailored to the needs of rare disease research. The aim is to familiarize young scientists in the field of rare diseases at an early stage with topics and methods whose relevance will become stronger in the future and thus to promote the interlinking with other medical and natural science fields in the long term.

Based on developments in research and health care, the content of the curricula focuses on these topics:

Often, symptoms that do not lead to a diagnosis or diseases that have been assigned to a diagnosis but have unexpected courses conceal rare, previously undescribed and unexplored new diseases. New methods of genome analysis (Next Generation Sequencing, NGS) contribute significantly to accelerating the identification of the cause of diseases and thus enable completely new approaches to the identification of mutations in genetic diseases. These are complemented by procedures of other high-throughput methods such as transcriptome or proteome analysis. By analyzing identified gene variants in pluripotent stem cells.  (iPSC) oder durch Einzelzellsequenzierungen lassen sich daran anschließend Krankheitsmechanismen identifizieren. Diese Verfahren sind sehr aufwendig, entwickeln sich schnell und benötigen eine spezialisierte Expertise, deren Grundlage im Rahmen dieses Junior Clinician Scientist Programms gelegt werden soll. Eine Kooperation mit der Biomedical Innovation Academy (BIA) und dem Projekt Case Analysis and Decision Support (CADS) des Berlin Institute of Health (BIH) an der Charité sowie dem Berliner Institut für Medizinische Systembiologie (BIMSB) des MDC schafft hierfür in Berlin exzellente Voraussetzungen.

With rapidly increasing computing power and storage capacities, major advances in information technology today enable AI-based systems that support medicine and bioinformatics in making diagnoses. Simultaneous access to a wide range of databases can verify suspected diagnoses based on clinical symptoms, or even make them in the first place. The standardized use of these learning systems can help to significantly shorten diagnostic paths. Clinician scientists will be given the opportunity to learn about and participate in the development of new technological challenges associated with advanced computational science approaches through this Junior Clinician Scientists program. A cooperation with the Junior Digital Clinician Scientist Program of the Biomedical Innovation Academy (BIA) of the BIH and a collaboration with the TU Berlin provide access to the latest technologies.

In addition, the curricula include supervision of participants by national and international mentors with proven expertise in rare diseases in childhood as well as participation in the annual Alliance4Rare Summer School and the Rare Disease Symposia of the Eva Luise and Horst Köhler Foundation in Berlin.

Application possible until September 5, 2023

Applications can be submitted online via the BIH Application and Reporting Portal until September 5, 2023. Here you can find the access as well as further information and documents:

Contact: Sanna Börgel, boergel@elhks.de

About the Alliance4Rare

Logo Alliance4Rare

The "Alliance4Rare" is a civil society-funded research initiative for children and young people with rare diseases, launched in 2022 by the Eva Luise and Horst Köhler Foundation. Alliance4Rare builds a bridge between the growing possibilities of modern precision medicine and the extremely urgent need for therapeutic options for children who are at risk of early death or severe disability due to disease mechanisms that are as yet poorly understood.

About Berliner Sparkassenstiftung Medicine

Die Berliner Sparkassenstiftung Medizin engagiert sich seit mehr als 30 Jahren in Berlin für Forschungserfolge in der Medizin sowie der Gesundheitspflege. Sie fördert die Entwicklung neuer medizinischer Lösungen, die erkrankten Menschen und deren Angehörigen Mut, Hoffnung und Zuversicht geben sollen. Aktueller Förderschwerpunkt sind Seltene Erkrankungen.

TRANSFUSION Hackathon 2023 on #RareDiseases

When: July 7 - July 9, 2023 

Where: Capgemini, Bahnhofstr.30, 90402 Nürnberg

The TRANSFUSION Hackathon 2023 focuses on the topic of rare diseases. Together, solutions will be developed on how to make them even more visible to the public and how to master the challenges associated with them.  

The diagnosis of rare diseases is a challenge that causes great difficulties for patients and physicians alike. Due to their rarity, knowledge about many diseases is limited, information is not reliable, and experts are rare. As a result, patients often have to go through a long and arduous odyssey of doctor visits, examinations and tests before a correct diagnosis is made. 

A 2017 study published in the Orphanet Journal of Rare Diseases found that, on average, it takes nearly five years for patients with rare diseases to be correctly diagnosed. This delay has a significant impact on the quality of life of those affected and their families. And in some cases it can even be life-threatening.

Task: Shortening diagnostic paths

Innovative solutions are therefore needed to shorten the time to diagnosis and enable patients to receive more targeted and faster treatment. These are of great importance not only for those affected themselves, but also for their environment.

The hackathon approaches the challenges in the context of two tasks:

1. How do I as a patient get a faster diagnosis?

2. How can I, as a physician, ensure that I also consider rare diseases when making a diagnosis?

All people who are interested in rare diseases are welcome at the TRANSFUSION Hackathon 2023. A cordial invitation to think about it and participate!

More information and registration: transfusion-oic.com 

TRANSFUSION 2023 is supported by the Eva Luise and Horst Köhler Foundation for People with Rare Diseases and is part of the Nürnberg Digital Festival. The digital society festival for the Nuremberg Metropolitan Region takes place annually over eleven days in more than 100 locations on site and online.

Call for applications for the 16th Eva Luise Köhler Research Award for Rare Diseases

About 5 million children, adolescents and adults suffer from one of the up to 8,000 rare diseases known today in Germany alone. More than 30 million people are affected throughout the EU, and 300 million worldwide. Despite their very different diseases, they all have to contend with very similar problems: extremely long diagnostic paths and the inadequate supply of therapies, medications and information often burden those affected and their families for years.


In order to improve medical care for these "orphans of medicine", the Eva Luise and Horst Köhler Foundation in cooperation with ACHSE e. V. has been granting since 2008 The Eva Luise Köhler Research Award for Rare Diseases. The award has become one of the most important awards in this research field.

The awarded money of 50,000 euros serves as start-up funding for innovative projects in the field of basic or clinical research on rare diseases. The funded projects should have a model character. Sustainable, cross-disease and research networking projects are particularly worthy of an award. Applications may be submitted multiple times, even in two consecutive years. Applications from research groups in Germany and abroad are eligible, as long as they are submitted from university or non-university institutes or clinics with a non-profit orientation.

Application documents can be submitted in German or English.

The deadline for applications for the 16th Research Award, which will be presented in Berlin in May 2024, is September 17, 2023.

Contact: Dr. Insa Gülzow, forschungspreis@achse-online.de

"A truly strong team" - Eva Luise Köhler honors Tübingen brain researcher and parents' initiative

Ceremony with Federal Minister of Health Lauterbach at the Berlin-Brandenburg Academy of Sciences and Humanities - Therapy development for hereditary disease PCH2a

Preisträger:innen Eva Luise Köhler Forschungspreis 2023
Prof. Dr. Horst and Eva Luise Köhler, the award laureates Dr. Axel Lankenau and Dr. Simone Mayer, Geske Wehr (ACHSE e.V.) and Prof. Dr. Annette Grüters-Kieslich, Chairwoman of the Eva Luise and Horst Köhler Foundation (from left to right)

"Behind every rare disease there is a person, a family, there are worries and hope. In dealing well with their needs, a just society proves itself," with these words, Federal Minister of Health Prof. Dr. Karl Lauterbach expressed his solidarity with people with rare diseases during the award ceremony of the 15th Eva Luise Köhler Research Prize for Rare Diseases on June 9, 2023 in Berlin. He assured: "The German government will do everything in our power to support the important research on rare diseases!"

Ceremony at the Berlin-Brandenburg Academy of Sciences and Humanities

Together with around 200 invited guests, the Federal Minister accepted the invitation of the Eva Luise and Horst Köhler Foundation to the Berlin Brandenburg Academy of Sciences. Dr. Simone Mayer from the Hertie Institute for Clinical Brain Research and the University of Tübingen received the award, which was presented in cooperation with the Alliance of Chronic Rare Diseases ACHSE e.V., for her research project on the development of a therapy for the neurological hereditary disease pontocerebellar hypoplasia type 2 (PCH2). Together with her, Dr. Axel Lankenau and Dr. Julia Matilainen from the self-help association PCH-Familiy were honored.

PCH2 is a very severe neurodevelopmental disorder in children. It is caused by a single swapped DNA building block. The tiny gene alteration, which occurs in only about one in a million people, causes a disruption in the development of certain brain areas, leading to significant limitations in psychomotor development. Most affected children die before they reach adolescence.

Organoid research raises hope for PCH2a and other diseases

Dr. Simone Mayer will use the awarded money of 50,000 euros to review promising drug candidates for the treatment of PCH2a, the most common form of PCH2. In a lecture, the scientist impressively explained how she and her research group at the Hertie Institute for Clinical Brain Research in Tübingen use brain organoids generated from donated skin cells of children affected by PCH2a. These tissue structures can grow three-dimensionally outside the human body and mimic the cellular architecture and certain functional aspects of brain areas. Brain organoids thus provide researchers with insights into early brain development and the genesis of neurological and psychiatric diseases. They also enable the study of the effects of drugs, toxins, germs or viruses as well as genetic variability on human brain cells and brain development. 

Medical progress is opening a historic window of opportunity

In her laudatory speech, Prof. Dr. Annette Grüters-Kieslich, Chairwoman of the Eva Luise and Horst Köhler Foundation, explained why the innovative research project was so convincing: "The work with stem cell-based brain organoids demonstrates the enormous scientific and technological advances that are providing researchers and us as a society with a historic window of opportunity," she emphasized, and was impressed by the close collaboration between the researcher and the affected families: "They are a truly strong team. We can see here what is possible in the field of rare diseases when everyone is working together and acting with the same conviction: Successful research can only be done WITH the people affected, not about them."

This belief is also shared by award winner Axel Lankenau, who has high hopes for the research. "There have never been so many highly motivated people under such good conditions involved in the subject as right now!" he emphasized in a keynote speech in which he gave impressive insights into life with his two sons Felix and Jonas, who are affected by PCH2. Lankenau talked about how he enables his sons to have a better quality of life and creates moments of happiness. This is only feasible with the help of a 15-member care team, underlined the chairman of the self-help association PCH-Family.. He appealed to the political decision-makers to implement this urgently needed care also in the implementation of the planned Out-of-Hospital Intensive Care Directive.

Rare need strong alliances - a lot remains to be done

The importance of cooperation and alliances was emphasized by Eva Luise Köhler, also patron of the Alliance of Chronic Rare Diseases ACHSE e. V., in her welcoming address, too: "From the bottom of my heart, I invite everyone to join us in our mission - whether as researching or supporting partners. Together, we want to do our utmost to make medical progress possible. Specifically where it is urgently needed but not yet sufficiently secured." Looking back on 17 years of the foundation's work for people with rare diseases, she noted, "Much has been achieved, yet a lot remains to be done, and we must strive to make what has been achieved future-proof." As examples, she mentioned sufficient funding for the centers for rare diseases, the continuation of the National Action Alliance NAMSE and the expansion of the Registry for Rare Diseases NARSE initiated by the Eva Luise and Horst Köhler Foundation.  

Additionally, framework conditions must be created that enable excellent research in this country, especially in the field of rare diseases. After all, it has been repeatedly shown that "those who recognize the pathological patterns behind a rare disease can often deduce the causes of more common diseases.

Also this year there was a happy surprise at the end of the event: Wera Röttgering, the 1st chairwoman of the association Herzenswünsche from Münster, presented a symbolic donation check for 30,000 euros to support the Alliance4Rare research initiative initiated by the Eva Luise and Horst Köhler Foundation.