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This study gathers information on people with cystinosis, a rare inherited disease, by following them in a cohort. People of any age with a confirmed cystinosis diagnosis (through cystine measurement, crystals on eye examination, or molecular testing) may take part. It is a non-phase observational study and is currently enrolling participants.
The summary above is a plain-language rendering of the official record. The original English title is shown for reference.
Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.
Inclusion Criteria: * Confirmed diagnosis of cystinosis (based on cystine dosage, presence of crystals at eye examination or molecular diagnosis) * Signed informed consent Exclusion Criteria: * Patients not able to give their informed consent. No other criteria (patients with associated disease should be enrolled).