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.

NCT Number	NCT07680751
Lead Sponsor	Institut National de la Santé Et de la Recherche Médicale, France
Conditions	Cystinosis
Enrollment	250 participants
Start Date	2026-07-01
Primary Completion	2028-03-01 (estimated)
Study Completion	2028-03-01 (estimated)
Updated on ClinicalTrials.gov	2026-07-02