European Cystinosis Cohort FRESH-PEF73378-en Sonia GUEGUEN European Cystinosis Cohort RaDiCo-ECYSCO FRESH-PEF73378-en 73378 FRESH-PEF73378 Aude SERVAIS INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM) Epidemiology France Portal (PEF) AGENCE NATIONALE DE LA RECHERCHE (ANR) null Aude;SERVAIS Renal Diseases Effects of treatments Rare diseases Quality of life Ophthalmology Paediatrics Nephrology Disorders of tyrosine metabolism Socio-demographic and economic determinants Biological determinants: Genetic predisposition Behavioral determinants Healthcare system determinants: Use of care Biological determinants Healthcare system determinants The primary objective of the RaDiCo-ECYSCO cohort is to understand the natural history and major long-term manifestations and outcomes of cystinosis in paediatric and adult cases. Secondary Objectives are to: • Evaluate the impact of disease and treatments on patients’ quality of life • Evaluate the effect of treatment on the complications • appraise the long-term safety of treatment and compliance Information Technology Objectives are to: • Develop and diffuse an electronic tool of data collection from various sources linked to a database integrating a system of management and follow-up of data-management allowing collection of data for cystinosis paediatric and adult patients. • Include data generated by patients and, where relevant, their parents and or carers. • Expand the cohort to cover a broader European population. • Promote the use of the RaDiCo-ECYSCO eCRF for mutualisation and harmonisation of data for cystinosis paediatric and adult patients within the expert sites. Improvement of standard care objectives are to: • Develop comprehensive evidence based guidelines for treatments as well as for follow-up of patients who will switch from paediatric to adult status, • Propose a system of audit against the guidelines ensuring overall care is of the highest standard as well as identifying areas of concern for actions. null France Belgium Italy Spain Netherlands Germany Individuals Patients population Male Female Infant (28 days to 2 years) Child, Preschool (2 to 5 years) Child (6 to 12 years) Young Adult (19 to 24 years) Adult (25 to 44 years) Middle Aged (45 to 64 years) Aged (65 to 79 years) Aged, 80 and over (80 years and more) The RaDiCo-ECYSCO Cohort inclusion criteria are the following: • Confirmed diagnosis of cystinosis (based on cystine dosage and/or presence of crystals at eye examination and/or molecular diagnosis) • Signed informed consent Patients not able to give their informed consent. No othercriteria (patients with associated disease should be enrolled) Clinical data Participant-reported health data Biological data Socio-demographic data HPO ICD10 Snomed CT Orpha Codes and ORDO Drug dictionary (DCIs) Continuous data management; Data Management Plan and Data Validation Plan. Native controls and Query system Health event/morbidity Health event/mortality Quality of life/health perception Other Through organizations (health services or institutions schools businesses etc.) < 500 individuals Converting or copying information into a structured record Medico-administrative database Observational Study Observational Study Morbidity registry 244 Unknown Restricted access Access Charter. Access requests to RaDiCo-ECYSCO data (rough / structured), or to analytic reports will be examined by the scientific committee following submission of a Specific Research Project (SRP) synopsis, as defined in the Resource Access Charter. Access on specific project only