European Cystinosis Cohort

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 that affects many organs. Symptoms typically begin around 6 months of age, and without treatment, kidney failure usually occurs between 6 and 12 years. Advances like kidney transplantation and cysteamine therapy have improved survival, allowing patients to live into adolescence and adulthood, but they face complex health issues requiring ongoing care. The study aims to expand an existing European database into a cohort study to collect comprehensive clinical and quality of life data from more countries, enhancing patient monitoring and care standards. This observational cohort study will gather detailed clinical information, personal data including quality of life, and genetic information at inclusion. Patients will have the opportunity to contribute their own quality of life data and receive feedback on general results. The study does not involve experimental treatments but focuses on data collection to better understand patient outcomes and care effectiveness across Europe. Participants will be followed over time with assessments including kidney function tests, recording the need for renal replacement therapy, and monitoring neurological, endocrine, and treatment compliance outcomes. Data will be collected through patient files, physician visits, and questionnaires at yearly intervals up to three years and throughout study completion. This long-term follow-up aims to identify care improvements and support high standards of management for cystinosis patients.

European Cystinosis Cohort