European Cystinosis Cohort
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 400
- 试验地点
- 1
- 主要终点
- Change in the number of renal replacement therapy (RRT)
研究概览
简要总结
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.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Other
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Confirmed diagnosis of cystinosis (based on cystine dosage, presence of crystals at eye examination or molecular diagnosis)
- •Signed informed consent
排除标准
- •Patients not able to give their informed consent. No other criteria (patients with associated disease should be enrolled).
结局指标
主要结局
Change in the number of renal replacement therapy (RRT)
时间窗: Through study completion, at 1 year, 2 year, 3 year
Change in Estimated Glomerular Filtration Rate (eGRF)
时间窗: Through study completion, at 1 year, 2 year, 3 year
次要结局
- Endocrine manifestations(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)
- Treatment compliance(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)
- Genetics(At inclusion)