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
This trial does not accept healthy volunteersQualifiers
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 population
Patients with a confirmed diagnosis of cystinosis followed in European expert reference centers are included in this multicenter observational cohort. The study population includes both prevalent patients already under follow-up and incident patients identified during the recruitment period. Included patients are European patients receiving standard of care and followed in France, Belgium, Italy, Germany, Spain, and the Netherlands. Both pediatric and adult patients are eligible. No intervention is assigned as part of the study. Approximately 250 patients are expected to be enrolled and followed longitudinally.
Trial design
Design model
Cohort
Time perspective
Other
Treatments tested in this trial
Not listed
Trial groups
250 Participants
are grouped into 1 trial groupGroup A: European cystinosis observational cohort
Trial outcomes
Primary outcomes
1
Long-term clinical disease progression in cystinosis
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.
Time frame
Through study completion, an average of 6 yearsSecondary outcomes
1
Quality of life in patients with cystinosis (adults)
Quality of life assessed using the SF-36 questionnaire (adults)
Time frame
Through study completion, an average of 6 years2
Quality of life in patients with cystinosis (children)
Quality of life assessed using the SF-10 questionnaire (children)
Time frame
Through study completion, an average of 6 years3
Treatment adherence in patients with cystinosis
Treatment adherence assessed using a treatment adherence questionnaire
Time frame
Through study completion, an average of 6 years4
Renal function assessment in patients with cystinosis
Evaluation of longitudinal changes in renal function based on clinical parameters, including estimated glomerular filtration rate (eGFR) and other renal laboratory assessments.
Time frame
Through study completion, an average of 6 yearsSponsors and contacts
Click on the lead sponsor to view all of their trials.
Source ClinicalTrials.gov
This trial is not recruiting at the moment. You can still explore other options: