European Study on Cystinosis Patient Outcomes and Quality of Life Across Multiple Countries

What this Trial Is About

Cystinosis is a rare lysosomal storage disease caused by mutations in the CTNS gene, leading to cystine buildup in cells and resulting in multi-organ dysfunction. Symptoms typically begin around six months of age, and without treatment, kidney failure occurs between 6 and 12 years. Advances including kidney transplantation and cysteamine therapy have improved outcomes, allowing patients to live into adolescence and adulthood, although they face complex health challenges requiring ongoing care. This research is an observational cohort study that builds on a previous European registry. It aims to collect extensive clinical and personal data, including quality of life information, from a larger number of European countries. Patients can actively participate by entering their own quality of life data and receive feedback on overall study results. This project is an academic effort not driven by pharmaceutical companies. Participants will be followed over time with data collected on kidney replacement therapy use, kidney function eGFR, and various secondary health outcomes such as endocrine issues, cognitive function, neurological symptoms, treatment compliance, and genetics. Data will be collected at inclusion and annually for up to three years. The study will help evaluate patient outcomes and guide improvements in care standards.

European Cystinosis Cohort