European Cystinosis Cohort 2
ConditionCystinosis
Trial statusNot yet recruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeNot listed
SponsorInstitut National de la Santé Et de la Recherche Médicale, France
About this trial
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.
Eligibility criteria
Qualifiers
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
Disqualifiers
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
Trial design
Treatments tested in this trial
- Not listed
Trial groups
250 Participants
are grouped into 1 trial groupSponsors and collaborators
Source ClinicalTrials.gov