ITMO Santé Publique
ITMO Santé Publique
Date de modification : 03/01/2017 | Version : 1 | ID : 73378
| Général | |
| Identification | |
| Nom détaillé | European Cystinosis Cohort |
| Sigle ou acronyme | RaDiCo-ECYSCO |
| Numéro d'enregistrement (ID-RCB ou EUDRACT, CNIL, CPP, etc.) | CCTIRS n°15.954 / CNIL Decision n° DR-2016-383 |
| Thématiques générales | |
| Domaine médical |
Disability/handicap Ophthalmology Rare diseases Urology, andrology and nephrology |
| Pathologie, précisions | Cystinosis: 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 with anorexia, polyuria, and failure to thrive, secondary to a Fanconi proximal renal tubulopathy. 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 in eyes, thyroid, gonads, endocrine pancreas, muscle and central nervous system |
| Déterminants de santé |
Genetic Lifestyle and behavior Medicine Social and psychosocial factors |
| Mots-clés | Renal Diseases, Effects of treatments, Rare diseases, Quality of life |
| Responsable(s) scientifique(s) | |
| Nom du responsable | SERVAIS |
| Prénom | Aude |
| Adresse |
Hôpital Necker, 149 rue de Sèvres, 75015 Paris FRANCE |
| Téléphone | +33 (0)1 44 49 54 13 |
| aude.servais@nck.aphp.fr | |
| Laboratoire | Inserm U983 |
| Organisme | Institut National de la Santé et de la Recherche Médicale / French National Institute for Health and Medical Research (Inserm) |
| Nom du responsable | Niaudet |
| Prénom | Patrick |
| Adresse |
Hôpital Necker, 149 rue de Sèvres, 75015 Paris FRANCE |
| Collaborations | |
| Participation à des projets, des réseaux, des consortiums |
Yes |
| Précisions | Filière de Santé Maladie Rare Orchid / European Reference Network ERK-NET |
| Financements | |
| Financements |
Public |
| Précisions | Funded by the French « Investissements d’Avenir » cohorts programme, Grant « ANR » 10-COHO-0003. |
| Gouvernance de la base de données | |
| Organisation(s) responsable(s) ou promoteur | Institut National de la Santé et de la Recherche Médicale / French National Institute for Health and Medical Research (Inserm) |
| Statut de l’organisation |
Secteur Public |
| Existence de comités scientifique ou de pilotage |
Yes |
| Labellisations et évaluations de la base de données | Security audit certification of the database |
| Contact(s) supplémentaire(s) | |
| Caractéristiques | |
| Type de base de données | |
| Type de base de données |
Morbidity registers |
| Informations complémentaires concernant la constitution de l'échantillon |
Paediatric and adult patients will be mainly recruited through the network of reference, competence and recognised expert centres of rare kidney diseases. For some prevalent adult patients, recruitment will be through sites identified as in charge of regular care of cystinosis patients. During regular care follow-up visit for prevalent patient and during their first regular care visit (post-diagnosis) for incident patient, investigator will inform patients meeting the inclusion criteria about the RaDiCo-ECYSCO cohort and invite them to participate.
All patients meeting criteria for inclusion and non-inclusion and willing to participate will be informed of the terms of the study during their consultation. Informed consent form and patient information sheet will be provided and explained by the investigator. Patients will be given as much time as necessary to evaluate their participation to the study. Participation in another study is not an exclusion criterion for this study as this is a follow-up of cohort type study. Also, participation in this study do not prevent participation in another study. |
| Objectif de la base de données | |
| Objectif principal |
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. |
| Critères d'inclusion |
The RaDiCo-ECYSCO Cohort inclusion criteria are the following:
• Confirmed diagnosis of cystinosis (based on cystine dosage, presence of crystals at eye examination or molecular diagnosis) • Signed informed consent Non-inclusion Criteria • Patients not able to give their informed consent. No other non-inclusion criteria (patients with associated disease should be enrolled) |
| Type de population | |
| Age |
Childhood (6 to 13 years) Adolescence (13 to 18 years) Adulthood (19 to 24 years) Adulthood (25 to 44 years) Adulthood (45 to 64 years) Elderly (65 to 79 years) Great age (80 years and more) |
| Population concernée |
Sick population |
| Pathologie | E72 - Other disorders of amino-acid metabolism |
| Sexe |
Woman |
| Champ géographique |
International |
| Détail du champ géographique | European study: France, Belgium, Italy, Spain, The Netherlands and Germany |
| Collecte | |
| Dates | |
| Année du premier recueil | 2017 |
| Année du dernier recueil | 2021 minimum |
| Taille de la base de données | |
| Taille de la base de données (en nombre d'individus) |
< 500 individuals |
| Détail du nombre d'individus | 400 |
| Données | |
| Activité de la base |
Current data collection |
| Type de données recueillies |
Clinical data Declarative data Paraclinical data Biological data Administrative data |
| Détail des données cliniques recueillies | data on medical history, clinical evaluation (renal function, eyes, endocrine, gastro-intestinal symptoms, muscle symptoms, neurological assessment and skin lesions), laboratory analyses (including cystine dosage), cysteamine and other treatments prescription, RRT, social life, and molecular analysis of patients suffering from cystinosis. It will include all retrospective data previously collected in the CEMARA database (CNIL authorisation number: 1187326 for France; regulatory requirements for Belgium and Italy were the responsibility of the participating local site) and new data from follow-up visit of prevalent patients as well as from incident patients (new inclusions). |
| Données déclaratives, précisions |
Paper self-questionnaire Internet self-questionnaire Face to face interview |
| Détail des données déclaratives recueillies | SF-36 (adults) / SF-10 (childrens) |
| Données biologiques, précisions | Laboratory analyses: Leucocyte cystine level (expressed as nanomoles of half-cystine per milligram of protein, normal <0.15) is measured before cysteamine administration, and determined and collected at least once a year. As the WBC cystine assay is complex and highly variable between laboratories, plasma cysteamine concentration will also be collected. Sites are encouraged to record all annual additional laboratory analyses, as exploratory objective. Other laboratory analyses are performed according to current care of patients (creatininemia, kaliemia, glycaemia, Thyroid Stimulating Hormone…). |
| Existence d’une biothèque |
No |
| Paramètres de santé étudiés |
Health event/morbidity Health event/mortality Quality of life/health perception |
| Qualité de vie/santé perçue, précisions | SF-36 (adults) / SF-10 (childrens) |
| Modalités | |
| Mode de recueil des données | eCRF using REDCap; Cloud based, secure by design web accessible platform. Certified Health Data Hosting resource |
| Nomenclatures employées | HPO, ICD10, Snomed CT, Orpha Codes and ORDO, Drug dictionary (DCIs) |
| Procédures qualité utilisées | Continuous data management; Data Management Plan and Data Validation Plan. Native controls and Query system |
| Suivi des participants |
Yes |
| Modalités de suivi des participants |
Monitoring by convocation of the participant Monitoring by contact with the referring doctor Monitoring by crossing with a morbidity register |
| Pathologie suivies | E72 - Other disorders of amino-acid metabolism |
| Appariement avec des sources administratives |
No |
| Valorisation et accès | |
| Valorisation et accès | |
| Accès | |
| Existence d’un document qui répertorie les variables et les modalités de codage |
Yes |
| Charte d'accès aux données (convention de mise à disposition, format de données et délais de mise à disposition) | 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. Must be sent to ecysco@radico.fr |
| Accès aux données agrégées |
Access on specific project only |
| Accès aux données individuelles |
Access on specific project only |
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