DEFI-ALPHA - Cohort of Children with Alpha 1 Antitrypsin Deficiency.
Head :
Lachaux Alain, Service d’Hépatologie, Gastroentérologie et Nutrition,
Last update : 12/10/2019 | Version : 1 | ID : 60120
| General | |
| Identification | |
| Detailed name | Cohort of Children with Alpha 1 Antitrypsin Deficiency. |
| Sign or acronym | DEFI-ALPHA |
| CNIL registration number, number and date of CPP agreement, AFSSAPS (French Health Products Safety Agency) authorisation | CCTIRS n°10.181 (08/04/2010), CNIL n°910279 (DR-2010-328, 29/10/2010) |
| General Aspects | |
| Medical area |
Gastroenterology et hepatology |
| Health determinants |
Genetic |
| Keywords | occurrence of complications, ultrasound/Doppler ultrasound, FibroScan, fibrosis test, endoscopy and oesophageal video capsule, platelets, transaminase and gamma-GT, Health episodes, factors, liver transplantation |
| Scientific investigator(s) (Contact) | |
| Name of the director | Lachaux |
| Surname | Alain |
| Address | HOPITAL FEMME-MERE-ENFANT du CHU de LYON, 59, BD PINEL, 69677 BRON |
| alain.lachaux@chu-lyon.fr | |
| Unit | Service d’Hépatologie, Gastroentérologie et Nutrition, |
| Organization | HCL - HOPITAL FEMME-MERE-ENFANTDE LYON |
| Collaborations | |
| Participation in projects, networks and consortia |
Yes |
| Funding | |
| Funding status |
Mixed |
| Details | Laboratoires LFB, PHRC |
| Governance of the database | |
| Sponsor(s) or organisation(s) responsible | CHU Lyon (L. Restier) |
| Organisation status |
Public |
| Additional contact | |
| Name of the contact | MIRON RESTIER |
| Surname | LIOARA |
| Address | HOPITAL FEMME-MERE-ENFANT du CHU de LYON, 59, BD PINEL, 69677 BRON |
| Phone | 04 27 85 60 20 |
| lioara.restier@chu-lyon.fr | |
| Unit | Service d’Hépatologie, Gastroentérologie et Nutrition, |
| Organization | HCL - HOPITAL FEMME-MERE-ENFANTDE LYON |
| 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. | Retrospective Other bodies active in creating this cohort: CHU and CHG, parents' association (Association ADAAT ALPHA 1 France, French association for patients and patients' families with alpha-1 antitrypsin deficiency) |
| Database objective | |
| Main objective | General objective: To investigate prognostic hepatic factors in A1AT deficient children. Investigation of factors associated with onset of complications: portal hypertension and its complications, severe liver failure, liver transplantation, abnormalities during respiratory function exploration. Secondary objectives: - To organise an active homogenised cohort follow-up. - To ensure that new cases are recorded. - To create a reference network in order to homogenise treatment. |
| Inclusion criteria | Children with DA1AT born after 1989, regardless of phenotype. DA1AT is defined as an alpha-1 antitrypsin deficiency lower than 1,1 g/l, and type ZZ or SZ MZ, MS, SS, detected by participating centres (service follow-up, or detected by corresponding neonatal services, family surveys, patient associations or dosage laboratories in the geographical area of participating services). |
| Population type | |
| Age |
Early childhood (2 to 5 years) Childhood (6 to 13 years) Adolescence (13 to 18 years) |
| Population covered |
Sick population |
| Pathology | XI - Diseases of the digestive system |
| Gender |
Male Woman |
| Geography area |
National |
| Detail of the geography area | Multicentric cohort throughout France (15 centres) |
| Data collection | |
| Dates | |
| Date of first collection (YYYY or MM/YYYY) | 09/2008 |
| Size of the database | |
| Size of the database (number of individuals) |
< 500 individuals |
| Details of the number of individuals | 180 |
| Data | |
| Database activity |
Current data collection |
| Type of data collected |
Clinical data Paraclinical data Biological data |
| Clinical data (detail) |
Direct physical measures Medical registration |
| Paraclinical data (detail) | Biochemistry and genetics, ultrasound, FibroScan, and medical imaging |
| Biological data (detail) | Clinical records |
| Presence of a biobank |
Yes |
| Contents of biobank |
Serum |
| Details of biobank content | Serum bank |
| Health parameters studied |
Health event/morbidity Health event/mortality |
| Procedures | |
| Data collection method | Interview: Direct input Clinical examination: Direct input Biological analysis: Direct input |
| Participant monitoring |
Yes |
| Monitoring procedures |
Monitoring by crossing with a medical-administrative database |
| Details on monitoring of participants | Until 18 years of age |
| Followed pathology | XI - Diseases of the digestive system |
| Links to administrative sources |
No |
| Promotion and access | |
| Promotion | |
| Link to the document | Ruiz_et_al-2019-Liver_International.pdf |
| Description | Pathologies hépatiques en rapport avec le déficit en alpha1-antitrypsine dans une cohorte d'enfants en France |
| Access | |
| Terms of data access (charter for data provision, format of data, availability delay) | To be decided if data may be used by academic teams Eric Chevet, INSERM U1053, Université Bordeaux Ségalen Access conditions: for European cohort collaboration (Dino Hadzic, nedim.hadzic@kcl.ac.uk), for an adult cohort with DA1AT (Gabriel Thabut : g.thabut@bch.ap-hop-paris.fr) To be decided if data may be used by industrial teams Access for potentially interested LFB laboratories |
| Access to aggregated data |
Access on specific project only |
| Access to individual data |
Access on specific project only |
