Cystinosis
Conditions
Keywords
Quality of life, Effects of treatments, European Study
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.
Interventions
None listed
Sponsors
Institut National de la Santé Et de la Recherche Médicale, France
Study design
Observational model
COHORT
Time perspective
OTHER
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
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).
Design outcomes
Primary
| Measure | 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
| Measure | Time frame | Description |
|---|---|---|
| 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) |
Countries
France
Contacts
CONTACTAude Servais, PHD
CONTACTPatrick Niaudet, PHD
PRINCIPAL_INVESTIGATORAude Servais, PHD
INSERM U933
Outcome results
None listed