RaDiCo-ECYSCO - European Cystinosis Cohort
Head :
SERVAIS Aude, Inserm U983
Niaudet Patrick
Niaudet Patrick
Last update : 01/24/2024 | Version : 2 | ID : 73378
| General | |
| Identification | |
| Detailed name | European Cystinosis Cohort |
| Sign or acronym | RaDiCo-ECYSCO |
| CNIL registration number, number and date of CPP agreement, AFSSAPS (French Health Products Safety Agency) authorisation | CCTIRS n°15.954 / CNIL Decision n° DR-2016-383 |
| General Aspects | |
| Medical area |
Disability/handicap Ophthalmology Pediatrics Rare diseases Urology, andrology and nephrology |
| Study in connection with Covid-19 |
No |
| Pathology (details) | 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 |
| Health determinants |
Genetic Lifestyle and behavior Medicine Social and psychosocial factors |
| Keywords | Renal Diseases, Effects of treatments, Rare diseases, Quality of life |
| Scientific investigator(s) (Contact) | |
| Name of the director | SERVAIS |
| Surname | Aude |
| Address |
Hôpital Necker, 149 rue de Sèvres, 75015 Paris FRANCE |
| Phone | +33 (0)144381515 |
| aude.servais@aphp.fr | |
| Unit | Inserm U983 |
| Organization | French National Institute for Health and Medical Research (Inserm) |
| Name of the director | Niaudet |
| Surname | Patrick |
| Address |
Hôpital Necker, 149 rue de Sèvres, 75015 Paris FRANCE |
| Patrick.niaudet@aphp.fr | |
| Collaborations | |
| Participation in projects, networks and consortia |
Yes |
| Details | Healthcare Network for Rare Diseases Orkid / European Reference Network ERK-NET |
| Funding | |
| Funding status |
Public |
| Details | RaDiCo received financial support from the French government managed by the National Research Agency (ANR) under the Investments for the Future Program (PIA), with reference <<ANR" 10-COHO-0003>>. |
| Governance of the database | |
| Sponsor(s) or organisation(s) responsible | French National Institute for Health and Medical Research (Inserm) |
| Organisation status |
Public |
| Presence of scientific or steering committees |
Yes |
| Labelling and database evaluation | Security audit certification of the database |
| Additional contact | |
| Main features | |
| Type of database | |
| Type of database |
Morbidity registers |
| Study databases (details) |
Cohort study |
| Database recruitment is carried out by an intermediary |
A selection of health institutions and services |
| Database recruitment is is made on the basis of: |
Another treatment or procedure |
| Database recruitment is carried out as part of an interventional study |
No |
| Additional information regarding sample selection. |
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. |
| Database objective | |
| Main objective |
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. |
| Inclusion criteria |
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 Non-inclusion Criteria • Patients not able to give their informed consent. No other non-inclusion criteria (patients with associated disease should be enrolled) |
| Population type | |
| Age |
Infant (28 days to 2 years) Early childhood (2 to 5 years) 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 covered |
Sick population |
| Pathology | E72 - Other disorders of amino-acid metabolism |
| Gender |
Male Woman |
| Geography area |
International |
| Detail of the geography area | European study: France, Belgium, Italy, Spain, The Netherlands and Germany |
| Data collection | |
| Dates | |
| Date of first collection (YYYY or MM/YYYY) | 2017 |
| Date of last collection (YYYY or MM/YYYY) | 2028 |
| Size of the database | |
| Size of the database (number of individuals) |
< 500 individuals |
| Details of the number of individuals | 244 |
| Data | |
| Database activity |
Current data collection |
| Type of data collected |
Clinical data Declarative data Paraclinical data Biological data Administrative data |
| Clinical data (detail) |
Direct physical measures Medical registration |
| Details of collected clinical data | 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). |
| Declarative data (detail) |
Paper self-questionnaire Internet self-questionnaire Face to face interview |
| Details of collected declarative data | SF-36 (adults) / SF-10 (childrens) |
| Biological data (detail) | 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…). |
| Presence of a biobank |
No |
| Health parameters studied |
Health event/morbidity Health event/mortality Quality of life/health perception |
| Quality of life/perceived health (detail) | SF-36 (adults) / SF-10 (childrens) |
| Procedures | |
| Data collection method | eCRF using REDCap; Cloud based, secure by design web accessible platform. Certified Health Data Hosting resource |
| Classifications used | HPO, ICD10, Snomed CT, Orpha Codes and ORDO, Drug dictionary (DCIs) |
| Quality procedure(s) used | Continuous data management; Data Management Plan and Data Validation Plan. Native controls and Query system |
| Participant monitoring |
Yes |
| Monitoring procedures |
Monitoring by convocation of the participant Monitoring by contact with the referring doctor Monitoring by crossing with a morbidity register |
| Followed pathology | E72 - Other disorders of amino-acid metabolism |
| Links to administrative sources |
No |
| Promotion and access | |
| Promotion | |
| Access | |
| Presence of document that lists variables and coding procedures |
Yes |
| Terms of data access (charter for data provision, format of data, availability delay) | 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 |
| Access to aggregated data |
Access on specific project only |
| Access to individual data |
Access on specific project only |
