RaDiCo-EURBIO-Alport - Study of the natural history of Alport Syndrome by establishment of an International database
Head :
Heidet Laurence
Knebelmann Bertrand, U1151
Knebelmann Bertrand, U1151
Last update : 03/21/2024 | Version : 1 | ID : 74150
| General | |
| Identification | |
| Detailed name | Study of the natural history of Alport Syndrome by establishment of an International database |
| Sign or acronym | RaDiCo-EURBIO-Alport |
| CNIL registration number, number and date of CPP agreement, AFSSAPS (French Health Products Safety Agency) authorisation | N° CCTIRS 16-087 / N° CPP 14130 ND / N° CNIL 916204 / N° MESR DC-2015-2564 |
| General Aspects | |
| Medical area |
Cardiology Ophthalmology Otolaryngology or ENT Pediatrics Rare diseases Urology, andrology and nephrology |
| Study in connection with Covid-19 |
No |
| Pathology (details) | Alport Syndrome (AS) is an inherited disease characterized by the association of a glomerular nephropathy, a sensorineural deafness, and retinal or corneal defects. Its frequency is about 1/5000. It is associated with mutations in one of the three genes encoding the alpha 3, 4, and 5 chains of type IV collagen, which form a distinct network in the glomerular basement membrane essential for the long-term stability of the glomerular filtration barrier. The disease can be inherited as a dominant X-linked, autosomal recessive, or autosomal dominant trait. Patients initially present with hematuria, followed by proteinuria and progressive renal failure. The median age at end-stage renal failure is about 20, but there is a large inter- and intra-familial variability. The progression of the disease can be divided into 4 stages: isolated hematuria, microalbuminuria, macroproteinuria, and progressive renal failure. Ear and ocular defects also exhibit progressive evolution. |
| Scientific investigator(s) (Contact) | |
| Name of the director | Heidet |
| Surname | Laurence |
| Address |
Hôpital Necker-Enfants Malades 149 rue de Sèvres 75743 Paris Cedex 15 |
| Phone | 0033 (0) 1 44 49 43 82 |
| laurence.heidet@aphp.fr | |
| Name of the director | Knebelmann |
| Surname | Bertrand |
| Address |
Hôpital Necker| 149 rue de Sevres/ Bat Hamburger, porte H2, 3 eme ètage 75015 Paris | FRANCE |
| Phone | 0033 (0) 1 44495241 |
| bertrand.knebelmann@aphp.fr | |
| Unit | U1151 |
| Organization | French National Institute for Health and Medical Research (Inserm) |
| Collaborations | |
| Participation in projects, networks and consortia |
Yes |
| Details | Rare Disease Healthcare Pathway (Orkid) / French national reference center for hereditary kidney diseases in children and adults (MARHEA)/ European Reference Network ERK-NET |
| Funding | |
| Funding status |
Public |
| Details | The RaDiCRaDiCo-EURBIO cohort initially received funding from the state managed by the National Research Agency (ANR) as part of the "Investissements d'Avenir" cohorts program. |
| 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. Data management and continuous quality control of data. |
| 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 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. Investigators will inform patients meeting the inclusion criteria about the RaDiCo-EURBIO-Alport cohort and invite them to participate during regular care follow-up visit for prevalent patient and during their first regular care visit (postdiagnosis) for incident patient.
|
| Database objective | |
| Main objective |
The main objective is to study the natural history of the Alport Syndrome.
|
| Inclusion criteria |
The inclusion criteria are :
- Diagnosis of AS based on (i) electron microscopic examination of the renal biopsy and/or (ii) molecular studies and/or (iii) abnormal expression of type IV collagen chains on skin and/or glomerular basement membranes. - Signed informed consent There are no exclusion criteria. |
| Population type | |
| Age |
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 | Q64 - Other congenital malformations of urinary system |
| Gender |
Male Woman |
| Geography area |
International |
| Data collection | |
| Dates | |
| Date of first collection (YYYY or MM/YYYY) | 2017 |
| Date of last collection (YYYY or MM/YYYY) | 2025 |
| Size of the database | |
| Size of the database (number of individuals) |
[500-1000[ individuals |
| Details of the number of individuals | 642 |
| Data | |
| Database activity |
Current data collection |
| Type of data collected |
Clinical data Declarative data Paraclinical data Biological data |
| Details of collected clinical data | The main variables collected, in addition to the CEMARA data already imported, are: demographics, family history, ocular symptoms, data on deafness and audiogram, treatments, molecular diagnosis, biochemical and renal parameters (ESRD, dialysis...), clinical examinations, as well as self-questionnaires on quality of life. |
| Declarative data (detail) |
Paper self-questionnaire Internet self-questionnaire Face to face interview |
| Details of collected declarative data | SF-36 (adults) / SF-10 (children) |
| Biological data (detail) | Biochemical, hematological, and renal parameters (ESRD, dialysis...) |
| Presence of a biobank |
Yes |
| Contents of biobank |
Fluids (saliva, urine, amniotic fluid, …) |
| Details of biobank content | urine |
| Health parameters studied |
Health event/morbidity Health event/mortality Quality of life/health perception |
| Procedures | |
| Data collection method | eCRF in secure web access, secure cloud and HADS hosting |
| Quality procedure(s) used | Data Management Plan and Data Validation Plan. Continuous data management (automatic control rules and "queries" system). |
| Participant monitoring |
Yes |
| Monitoring procedures |
Monitoring by convocation of the participant Monitoring by contact with the referring doctor |
| 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) | Requests for access to RaDiCo-EURBIO data (aggregated or individual) will be reviewed by the scientific committee following the submission of a synopsis of a Specific Research Project (PRS), as defined in the Access to Resources Charter. Requests should be sent to eurbio@radico.fr. |
| Access to aggregated data |
Access on specific project only |
| Access to individual data |
Access on specific project only |
