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Clinical Trial 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.


Clinical Trial Description

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Study Design


Related Conditions & MeSH terms


NCT number NCT05901077
Study type Observational
Source Institut National de la Santé Et de la Recherche Médicale, France
Contact Aude Servais, PHD
Phone 0033 1 44 38 15 15
Email aude.servais@aphp.fr
Status Recruiting
Phase
Start date April 20, 2017
Completion date April 2026

See also
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Completed NCT01614431 - N Acetyl Cysteine for Cystinosis Patients Phase 4
Recruiting NCT05843851 - Genetic Newborn Screening for Cystinosis and Primary Hyperoxaluria N/A
Completed NCT01000961 - Phase 3 Study of Cysteamine Bitartrate Delayed-release (RP103) Compared to Cystagon® in Patients With Cystinosis Phase 3
Active, not recruiting NCT03897361 - Stem Cell Gene Therapy for Cystinosis Phase 1/Phase 2