| NCT ID | NCT05901077 |
| Status | Recruiting |
| Phase | — |
| Sponsor | Institut National de la Santé Et de la Recherche Médicale, France |
| Condition | Cystinosis |
| Study Type | OBSERVATIONAL |
| Enrollment | 400 participants |
| Start Date | 2017-04-20 |
| Primary Completion | 2026-04 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 400 participants in total. It began in 2017-04-20 with a primary completion date of 2026-04.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief Summary
Cystinosis is a generalized lysosomal storage disease with a reported incidence of about 1:180,000 live births. There are estimated 110-140 cases in France (approximately 500 in Western Europe). The disease is caused by mutations in the CTNS gene coding for cystinosin, a lysosomal carrier protein. The lysosomal cystine accumulation leads to cellular dysfunction in many organs. The first symptoms start at about 6 months of age. In the absence of specific therapy, end stage renal disease occurs between 6 and 12 years of age. Survival beyond this age is associated with the development of extra-renal complications. Renal transplantation and the availability of cystine-depleting medical therapy, cysteamine (EU/1/97/039/001, EU/1/97/039/003), have radically altered the natural history of cystinosis. Cystinosis is a good example of a "paediatric" disease where patients now survive into adolescence and adulthood. These individuals have complex, multisystem problems that require on-going care. Despite some progress in recent years there are still significant limitations in the knowledge of diagnostic and therapeutic procedures. A first European registry was launched in 2011, using the CEMARA application developed by the Banque Nationale de Données Maladies Rares (BNDMR, CNIL authorisation number: 1187326), allowing the collection of data from France, Belgium and Italy. The objective of the current study is to translate this database into a cohort study that will allow and facilitate the collection of a wider range of data including clinical, and personal data such as quality of life data, from an increased number of European countries, improve the monitoring, data-management and analysis of the data, offer the possibility for patients to actively participate to and benefit from the study by developing a module in which patients will enter their own data on quality of life with a direct feed-back on the general results. This project is a unique opportunity for building a consensual European academic cohort not based on company driven, "drug-oriented" objectives. The cohort will collect clinical details to analyse patient outcomes thus providing audit of patient care \& clinical effectiveness. It will be possible, through the cohort, to indicate where improvements need to be made and ultimately improve care to the highest standards.
Eligibility 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).
Contact & Investigator
Aude Servais, PHD
PRINCIPAL INVESTIGATOR
INSERM U933
Frequently Asked Questions
Who can join the NCT05901077 clinical trial?
This trial is open to participants of all sexes, studying Cystinosis. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT05901077 currently recruiting?
Yes, NCT05901077 is actively recruiting participants. Contact the research team at aude.servais@aphp.fr for enrollment information.
Where is the NCT05901077 trial being conducted?
This trial is being conducted at Paris, France.
Who is sponsoring the NCT05901077 clinical trial?
NCT05901077 is sponsored by Institut National de la Santé Et de la Recherche Médicale, France. The principal investigator is Aude Servais, PHD at INSERM U933. The trial plans to enroll 400 participants.