Guideline project: SELECT – S3 Guideline for Cystinosis Our application for a guideline has received approval from the innovation fund. The project starts on October 1, 2022 and lasts two years (until September 30, 2024). As part of this, an S3 guideline for cystinosis is to be drawn up for the first time. The goal of this guideline is to improve and standardize diagnostics, therapy and prevention for cystinosis patients through evidence-based recommendations for all age groups in outpatient and inpatient settings. So far consensus recommendations are only available in English, but no evidence-based guidelines. Due to the multi-organ involvement and the rarity of the disease, in addition…
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Newborn screening The earlier the disease is recognized and treated, the less severe the progress is – as shown by data from the regular cystinosis clinic. Unfortunately, the symptoms of cystinosis begin so slowly that the correct diagnosis is often not made until the age of two. At this point, however, organs such as the kidneys are already damaged irreversibly. As part of a pilot project, genetic screening for cystinosis has therefore been offered in selected regions in Germany since January 2018 in addition to regular newborn screening, which is usually carried out on the third day of life. The project is…
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SAVE The goal of the “SAVE” project is to establish an electronic case file in order to improve communication between the physicians and therapists as well as to collect and evaluate long-term data for future therapy adjustments in a standardized form. The need for such a case file arose from the fact that until now, the data on these patients could not be collected in a structured and evaluable form across the patient’s doctors. Cystinosis is a multi-organ disease that requires interdisciplinary care for the patient. For this purpose, the interdisciplinary cystinosis clinic hour was introduced in 2012: Approximately 90 patients…
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IMPACT The condition of the muscles of patients with cystinosis is important for the course of this disease. Regular exercise builds up muscles and can have a positive impact on life expectancy and quality of life. IMPACT is intended to show whether regular training with vibration plates can increase the muscle strength of cystinosis patients. This is to prevent serious medical interventions in the long term and improve the quality of life. In the course of cystinosis it is common that the muscles decrease. This also affects the muscles responsible for swallowing and breathing. There is evidence that exercise can…
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