ITMO Santé Publique
ITMO Santé Publique
Date de modification : 23/02/2024 | Version : 1 | ID : 74147
| Général | |
| Identification | |
| Nom détaillé | RaDiCo-COLPAC - National Cohort on the Epidemiology, Clinical and Genetic Heterogeneity of "Low Phospholipid‐Associated Cholelithiasis" (LPAC) Syndrome |
| Sigle ou acronyme | RaDiCo-COLPAC |
| Numéro d'enregistrement (ID-RCB ou EUDRACT, CNIL, CPP, etc.) | N° CCTIRS 16-361 / N° CPP 14238ND / N° MESR DC-2015-2480 / MR-001 |
| Thématiques générales | |
| Domaine médical |
Gastroenterology et hepatology Pediatrics Radiology and medical imaging Rare diseases |
| Etude en lien avec la Covid-19 |
No |
| Pathologie, précisions | LPAC syndrome is a rare and symptomatic form of intrahepatic gallstones of cholesterol in young subjects (< 40 years) of genetic origin, recurrent characteristically after cholecystectomy and often responding favorably to treatment with ursodeoxycholic acid. LPAC syndrome is associated with an abnormally low concentration of phospholipids in the bile. It preferentially affects women between the ages of 20 and 40 and is often associated with a history of gestational cholestasis. A family history of symptomatic gallstones is present in 40% of cases and a germline mutation (most often of the missense and heterozygous type) of the ABCB4 gene, which encodes MDR3, the biliary transporter of phospholipids, is found in 30% to 50% of cases. Apart from the ABCB4 gene, there is no other predisposition gene currently identified. Its clinical expression is variable, ranging from the microlithiasis form responding well to the ursodeoxycholic acid to the calculus of the bile ducts responsible for recurrent angiocholitis. Some rarer forms can be complicated by cirrhosis or cholangiocarcinoma. LPAC syndrome is therefore a rare disease, clinically and genetically heterogeneous, whose course and prognosis are not predictable and whose prevalence in the general population remains unknown. |
| Responsable(s) scientifique(s) | |
| Nom du responsable | Corpechot |
| Prénom | Christophe |
| Adresse |
Centre de référence des Maladies Inflammatoires des Voies Biliaires Hôpital Saint-Antoine 184 rue du faubourg Saint-Antoine 75571 Paris cedex 12 FRANCE |
| Téléphone | + 33 (0)1 49 28 28 36 |
| Laboratoire | UMR_S938 |
| Organisme | Institut National de la Santé et de la Recherche Médicale (Inserm) |
| Collaborations | |
| Financements | |
| Financements |
Public |
| Précisions | The RaDiCo-COLPAC cohort is funded by the French « Investissements d'Avenir » cohorts programme, Grant « ANR » 10-COHO-0003. This study also received a grant from the "COMAD" call for projects launched by the SNFGE in 2016. |
| Gouvernance de la base de données | |
| Organisation(s) responsable(s) ou promoteur | Institut National de la Santé et de la Recherche Médicale (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. Data management and continuous quality control of data. |
| Contact(s) supplémentaire(s) | |
| Caractéristiques | |
| Type de base de données | |
| Type de base de données |
Morbidity registers |
| Origine du recrutement des participants |
A selection of health institutions and services |
| Le recrutement dans la base de données s'effectue dans le cadre d'une étude interventionnelle |
No |
| Objectif de la base de données | |
| Objectif principal | The main objective is to describe the different clinical, biological and radiological manifestations of LPAC syndrome defined according to current diagnostic criteria or according to extended criteria to any recurrent symptomatic gallstone disease and to delineate the different possible evolutions. |
| Critères d'inclusion |
Inclusion Criteria:
Any patient over 13 years of age, prevalent or incident, meeting the usual diagnostic criteria (Patient Category 1: symptomatic gallstones with at least 2 out of 3 LPAC syndrome criteria, see below) or extensive (Patient Category 2: symptomatic gallstones with only one out of 3 LPAC syndrome criteria, see below) diagnostic criteria for LPAC syndrome. Diagnostic criteria for LPAC syndrome (symptomatic patients): 1) First symptoms before the age of 40 2) Radiological images consistent with the existence of intrahepatic lithiasis (stones, sludge, hyper-echoic foci, "comet tails") 3) Recurrence of symptoms after cholecystectomy Exclusion Criteria: Patients who have undergone liver transplantation. |
| Type de population | |
| Age |
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 | K83 - Other diseases of biliary tract |
| Sexe |
Male Woman |
| Champ géographique |
National |
| Collecte | |
| Dates | |
| Année du premier recueil | 2017 |
| Année du dernier recueil | 2028 |
| Taille de la base de données | |
| Taille de la base de données (en nombre d'individus) |
[500-1000[ individuals |
| Détail du nombre d'individus | 550 to 650 patients estimated |
| Données | |
| Activité de la base |
Current data collection |
| Type de données recueillies |
Clinical data Declarative data Paraclinical data Biological data |
| Données cliniques, précisions |
Direct physical measures Medical registration |
| Détail des données cliniques recueillies | Demographic data, diagnostic characteristics, medical history related to the pathology, comorbidities not related to the pathology, family history, symptoms, LPAC specific treatments and other, surgical or endoscopic interventions, .... |
| Données déclaratives, précisions |
Paper self-questionnaire Internet self-questionnaire Face to face interview |
| Détail des données déclaratives recueillies | Quality of life (SF-10 for minors / SF-36 for adults) and pain assessment |
| Données paracliniques, précisions | Imaging data (liver ultrasound, liver scan, cholangiography by MRI, biliopancreatic endoscopic ultrasound, endoscopic retrograde cholangiography), .... |
| Données biologiques, précisions | Haematological and biochemical results, biliary analyses, .... |
| Existence d’une biothèque |
Yes |
| Contenu de la biothèque |
DNA |
| Détail des éléments conservés | The project includes the creation of a genomic DNA bank to search for new susceptibility genes (or modulators) for LPAC syndrome. |
| Paramètres de santé étudiés |
Health event/morbidity Health event/mortality Quality of life/health perception |
| Modalités | |
| Mode de recueil des données | eCRF in secure web access, secure cloud and HADS hosting |
| Procédures qualité utilisées | Data Management Plan and Data Validation Plan. Continuous data management (automatic control rules 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 |
| 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) |
Requests for access to RaDiCo-COLPAC data (aggregated or individual) will be considered by the Scientific Committee following the submission of a summary of a specific research project, as defined in the Charter of access to resources. Requests should be sent to: colpac@radico.fr
|
| Accès aux données agrégées |
Access on specific project only |
| Accès aux données individuelles |
Access on specific project only |
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