European Cystinosis Cohort 2

This European observational cohort follows patients with cystinosis, a rare lysosomal storage disease caused by CTNS mutations leading to cystine accumulation and multisystem involvement. It aims to describe the long-term clinical course under current treatments, focusing on renal and extra-renal complications, survival, and quality of life. It also evaluates treatment effects and explores biomarkers, including inflammatory markers, with biobanking for future research.

Inclusion Criteria: * Confirmed diagnosis of cystinosis based on leukocyte cystine measurement, presence of corneal cystine crystals, and/or molecular genetic diagnosis * Signed informed consent obtained from the patient or legal representative Exclusion Criteria: * Patients unable to provide informed consent or without a legal representative when required * No other specific exclusion criteria; patients with associated diseases may be included