European Cystinosis Cohort

Study Overview
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Brief Summary
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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.

Official Title
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European Cystinosis Cohort

Conditions
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Cystinosis

Participation Criteria
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Eligibility Criteria
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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).
Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Change in the number of renal replacement therapy (RRT) |  | Through study completion, at 1 year, 2 year, 3 year | 
| Change in Estimated Glomerular Filtration Rate (eGRF) |  | Through study completion, at 1 year, 2 year, 3 year | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Endocrine manifestations | Tanner scale for pubertal and genital state, Age of Menarche, Presence of hypothyroidism, Diabetes mellitus and impaired glucose tolerance | Through study completion, at 1 year, 2 year, 3 year | 
| Memory loss, cognitive defect, speech disorder with a Questionnaires |  | Through study completion, at 1 year, 2 year, 3 year | 
| Seizure, stroke, motor defect, extrapyramidal movement disorder reported from patients files |  | Through study completion, at 1 year, 2 year, 3 year | 
| Sensory neuropathy, neuroradiological signs, somnolence, collected by the physicians during the visits |  | Through study completion, at 1 year, 2 year, 3 year | 
| Treatment compliance | Records of adverse events for the long-term safety of treatment (side effects of eye drops -presence of redness, blurring, irritation, itching, pain, or of skeletal, haematological, biochemical, etc. manifestations), treatment duration and interuption and treatment compliance records. | Through study completion, at 1 year, 2 year, 3 year | 
| Genetics | Description of mutations encountered within population in particular in CTNS gene (57Kb deletion and others mutations) | At inclusion | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Quality of life, Effects of treatments, European Study