Cohort study on cystinosis in Europe
Official title: European Cystinosis Cohort
Run by Institut National de la Santé Et de la Recherche Médicale, France · NCT05901077 · Data updated 2026-11-12
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 type | Observational |
|---|---|
| Sex | All |
| Enrollment | 400 (estimated) |
| Sponsor | Institut National de la Santé Et de la Recherche Médicale, France Government |
| Locations | 1 site (Paris, Île-de-France Region) |
| Status | Recruiting |
| Started | April 20, 2017 |
| Main results expected | April 2027 |
| Study ends | April 2027 |
| Registry record updated | July 7, 2026 |
| Trial ID | NCT05901077 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates for this study are individuals with a confirmed diagnosis of cystinosis who can provide informed consent.
✕Probably not a fit
Patients who are unable to give informed consent or those with associated diseases may not benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
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.
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 gone: While there have been studies on cystinosis, this cohort approach focusing on quality of life and treatment effects is relatively novel.
Who can join: the full rules
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 it's running
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RaDiCo-ECYSCO
Paris, Île-de-France Region, France Recruiting
Study contacts
- Principal investigator: Aude Servais, PHD — Inserm U933
- Study coordinator: Aude Servais, PHD
- Email: aude.servais@aphp.fr
- Phone: 0033 1 44 38 15 15
Similar studies
Other studies for the same condition or treatment. Recruiting studies are listed first.
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Cystinosis and Mitochondrial Metabolism study
This study tests a treatment approach targeting mitochondrial metabolism in people with nephropathic cystinosis to see if it improves kidney-related outcomes.
-
National Registry for Rare Kidney Diseases
This study is collecting health information from people with rare kidney diseases to help improve treatments and create better care guidelines.
-
Transplanting stem cells and kidneys from the same donor to prevent rejection
This study is testing if giving patients stem cells and a kidney from the same donor can help prevent kidney rejection without needing lifelong medication to suppress their immune system.
-
Registry for patients with rare diseases
This study is creating a central registry for people with rare diseases to help connect them with researchers and improve treatments.
-
Using cysteamine to treat cystinosis
This study is testing how well the medication cysteamine works for people with cystinosis and what long-term effects it has on their health.
How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.