RaDiCo-ECYSCO: European Cystinosis Cohort
Study Details
Study Description
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.
| Condition or Disease | Intervention/Treatment | Phase |
|---|---|---|
|
|
Study Design
Outcome Measures
Primary Outcome Measures
- 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
- Endocrine manifestations [Through study completion, at 1 year, 2 year, 3 year]
Tanner scale for pubertal and genital state, Age of Menarche, Presence of hypothyroidism, Diabetes mellitus and impaired glucose tolerance
- 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 [Through study completion, at 1 year, 2 year, 3 year]
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.
- Genetics [At inclusion]
Description of mutations encountered within population in particular in CTNS gene (57Kb deletion and others mutations)
Eligibility Criteria
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).
Contacts and Locations
Locations
| Site | City | State | Country | Postal Code | |
|---|---|---|---|---|---|
| 1 | RaDiCo-ECYSCO | Paris | Île-de-France | France | 75012 |
Sponsors and Collaborators
- Institut National de la Santé Et de la Recherche Médicale, France
Investigators
- Principal Investigator: Aude Servais, PHD, INSERM U933
Study Documents (Full-Text)
None provided.More Information
Publications
None provided.- C15-49