Study Status: RECRUITING
Recruit Status: RECRUITING
Study Type: OBSERVATIONAL
Official Title: European Cystinosis Cohort
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 Donn�es 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.