Cohort study on cystinosis in Europe

European Cystinosis Cohort

Observational Institut National de la Santé Et de la Recherche Médicale, France · NCT05901077

This study looks at how cystinosis affects the lives of patients in Europe and how different treatments impact their health and well-being.

Quick facts

Study typeObservational
Enrollment400 (estimated)
SexAll
SponsorInstitut National de la Santé Et de la Recherche Médicale, France Government
Locations1 site (Paris, Île-de-France Region)
Trial IDNCT05901077 on ClinicalTrials.gov

What this trial studies

This observational study focuses on cystinosis, a rare lysosomal storage disease affecting multiple organs due to cystine accumulation. It aims to assess the quality of life and the effects of treatments in patients diagnosed with cystinosis across Europe. The study will involve patients with confirmed diagnoses, who will provide informed consent to participate. By gathering data on the experiences and health outcomes of these patients, the study seeks to enhance understanding of the disease and improve care strategies.

Who should consider this trial

Good fit: Ideal candidates for this study are individuals with a confirmed diagnosis of cystinosis who can provide informed consent.

Not a fit: Patients who are unable to give informed consent or those with associated diseases may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could lead to improved management and treatment strategies for patients with cystinosis, enhancing their quality of life.

How similar studies have performed: While there have been studies on cystinosis, this cohort approach focusing on quality of life and treatment effects is relatively novel.

Eligibility criteria

Show full inclusion / exclusion criteria
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).

Where this trial is running

Paris, Île-de-France Region

Study contacts

How to participate

  1. Review the eligibility criteria above with your treating physician.
  2. Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
  3. Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions CystinosisQuality of lifeEffects of treatmentsEuropean Study
Last reviewed 2026-06-15 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.