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European Cystinosis Cohort

NCT05901077 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 400

Last updated 2026-02-12

No results posted yet for this study

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.

Conditions

  • Cystinosis

Sponsors & Collaborators

  • Institut National de la Santé Et de la Recherche Médicale, France

    lead OTHER_GOV

Principal Investigators

  • Aude Servais, PHD · INSERM U933

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2017-04-20
Primary Completion
2026-04-30
Completion
2026-04-30

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT05901077 on ClinicalTrials.gov