In the current issue of the "BPI Themendienst" about Rare Diseases, Prof. Dr. Annette Grüters-Kieslich, Chairwoman of the Board of the Eva Luise and Horst Köhler Foundation, describes problems and challenges faced by people with rare diseases and points out starting points for important improvements. At the same time, she emphasizes: "Based on rare diseases, we learn a lot for the treatment of common disease patterns, and everyone benefits from that!"
Rare diseases: still the "poor cousins" of medicine
"Unfortunately, rare diseases are still to a large extent the poor cousins of medicine. There is a lack of structured care pathways, specialists, and investments in the research structure," said Prof. Grüters-Kieslich. Targeted treatments are often not possible because causal therapies and specific drugs are available for only about 160 of the more than 8,000 rare diseases. In most cases, it takes many years until a diagnosis is made, and critical time windows for timely intervention are sometimes missed, "with then, of course, particularly tragic consequences for those affected."
TRANSLATE-NAMSE: a compelling blueprint for improving care for patients with rare diseases
The TRANSLATE-NAMSE project, funded by the Innovation Fund of the Federal Joint Committee, has shown how things can be done differently. In this project, nine centers for rare diseases (ZSE) and four human genetics institutes have tested approaches for structured care in a supraregional multiprofessional network. "In particular, the interdisciplinary case conferences have proven very helpful in moving forward with complex cases. Many patients who previously spent years wandering through the health care system mistreated have received a precise diagnosis within six months as part of the project," explains Prof. Grüters-Kieslich. "This is a great success!"
Newborn screening: early diagnosis is essential
The experienced pediatrician points out that most rare diseases manifest itselves in childhood: "Many affected children will never be able to lead an independent life; at least 1,000 die each year in Germany alone". Early diagnosis, for example in the context of screening examinations for newborns, is essential in her opinion: "Screening allows us to detect severe disorders at an early stage and enable us to treat affected children immediately. In many cases, this is crucial for children to survive and develop normally." Such screening is now available for 17 diseases, including inborn errors of metabolism and hormone disorders. Thanks to many new therapeutic approaches, more and more diseases are becoming eligible for screening. However, Prof. Grüters-Kieslich also emphasizes, "Basically, newborn screening only makes sense if it also results in a treatment option that significantly improves the child's prognosis." Most recently, screening examinations for sickle cell disease and spinal muscular atrophy were introduced.
Financing: High investment costs are offset by enormous benefits - individually and generally
Among other things, the gene therapy Zolgensma is now available for the treatment of spinal muscular atrophy, which made headlines in 2020 as the "most expensive drug in the world". For Annette Grüters-Kieslich, however, the high costs are offset by enormous benefits both for patients and for medicine as a whole: "It is a great advance that spinal muscular atrophy can be treated with an injection. Children who previously lived only a few years and were significantly limited are surviving and suddenly learning to walk and ride a bike." If the therapeutic benefit is that obvious, the public debate should not focus on the cost side, but on the benefit for patients, Grüters-Kieslich said. Of course, innovations such as high-precision gene therapy methods are initially very expensive, but the investments are offset not only by individual patient benefits, but also by a general gain in knowledge. Research into rare diseases is driving what is known as personalized medicine. Prof. Grüters-Kieslich is convinced: "In the end, everyone benefits from this!"
You can read the entire article here (german): BPI Themendienst - Seltene Erkrankungen