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
Sex
ALL
Min age
—
Max age
—
Healthy volunteers
No
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
Primary outcome measure(s)
Long-term clinical disease progression in cystinosis — Through study completion, an average of 6 years Evaluation of long-term disease progression in patients with cystinosis, including renal function (eGFR, renal replacement therapy), ocular involvement, endocrine manifestations, neurological abnormalities, muscular and gastrointestinal complications, and survival. Additional data include current treatments and CTNS genotyping.
Trial sites (1)
Facility
City
Region
Status
AP-HP_ Hôpital Charles Foix
Ivry-sur-Seine
Île-de-France Region
More Institut National de la Santé Et de la Recherche Médicale, France trials in France
This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.
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