LITERACY – Training program for people with cystinosis The LITERACY project is a digital educational program for people with cystinosis and their families. It provides clearly prepared information about the disease and helps make everyday life safer and easier to manage.
A combination of podcasts, explainer videos, and interactive Q&A sessions enables both independent learning and direct exchange with experts. The program content covers a wide range of topics and is based on a comprehensive needs assessment conducted among affected individuals and their families.
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QUALIFY – Development of disease-specific quality of life questionnaires for patients of different age groups and caregivers To assess the quality of life, a range of generic, validated questionnaires is available. However, to more precisely measure the quality of life of individuals affected by cystinosis and their caregivers, we are developing new age-specific and disease-specific assessment instruments in collaboration with psychologists at the University Medical Center Hamburg-Eppendorf. To this end, a set of categories potentially influencing the quality of life was first identified and then prioritized together with affected individuals from different cultural backgrounds. The questionnaires developed on this basis were subsequently validated in multiple languages. A publication resulting from this project is currently in preparation.
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Guideline project: SELECT – S3 Guideline for Cystinosis After our project application for the development of an evidence-based S3 guideline for the treatment of cystinosis was approved by the Innovation Fund, the project officially started on October 1, 2022. Following two years of intensive work, the project was successfully completed on September 30, 2024. The goal of the guideline was to improve and standardize diagnostics, therapy, and prevention in cystinosis, as well as to provide evidence-based recommendations for all age groups in both outpatient and inpatient settings. At the beginning of the project, relevant medical societies in Germany and internationally, as well as more than 80 experts were…
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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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