ITMO public health
Last update : 08/17/2016 | Version : 1 | ID : 32159
| General | |
| Identification | |
| Detailed name | Cohort of Patients with Alport Syndrome |
| General Aspects | |
| Medical area |
Rare diseases |
| Health determinants |
Genetic |
| Keywords | Alport syndrome, hereditary disease, rare disease |
| Scientific investigator(s) (Contact) | |
| Name of the director | Heidet |
| Surname | Laurence |
| Address | 149 rue de Sèvres 75015 PARIS |
| laurence.heidet@nck.aphp.fr | |
| Organization | Necker Hospital for Children |
| Collaborations | |
| Participation in projects, networks and consortia |
Yes |
| Details | Under the RADICO (Rare Disease Cohorts) programme, the RaDiCo-EURBIO-Alport will be implemented to expand the Alport syndrome database across Europe. |
| Funding | |
| Funding status |
Private |
| Details | Association for Information and Research on Renal Genetic Diseases |
| Governance of the database | |
| Sponsor(s) or organisation(s) responsible | Centre de référence Maladies Rénales Héréditaires de l'Enfant et de l'Adulte - Société française de néphrologie |
| Organisation status |
Private |
| Additional contact | |
| Main features | |
| Type of database | |
| Type of database |
Study databases |
| 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. | From several adult and paediatric nephrology centres. |
| Database objective | |
| Main objective |
Knowledge of the natural history of the disease.
Understanding the disease mechanisms for developing kidney failure. |
| Inclusion criteria | Patients with Alport syndrome. |
| Population type | |
| Age |
Newborns (birth to 28 days) 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 |
| Gender |
Male Woman |
| Geography area |
National |
| Detail of the geography area | France |
| Data collection | |
| Dates | |
| Size of the database | |
| Size of the database (number of individuals) |
< 500 individuals |
| Details of the number of individuals | 440 |
| Data | |
| Database activity |
Current data collection |
| Type of data collected |
Clinical data Biological data |
| Clinical data (detail) |
Direct physical measures |
| Details of collected clinical data | Family history (consanguinity, blood in urine, hearing loss, ocular abnormalities, anomalies in collagen expression); transmission method; molecular studies; extrarenal signs; kidney biopsy; immunofluorescence studies. |
| Biological data (detail) | Microalbuminuria and proteinuria; renal function; renin-angiotensin system inhibitors |
| Presence of a biobank |
No |
| Health parameters studied |
Health event/morbidity |
| Procedures | |
| Participant monitoring |
Yes |
| Links to administrative sources |
No |
| Promotion and access | |
| Promotion | |
| Access | |
| Terms of data access (charter for data provision, format of data, availability delay) | Contact the scientist in charge. |
| Access to aggregated data |
Access on specific project only |
| Access to individual data |
Access on specific project only |
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