Clinical trial NCT05961826: COLPAC (RaDiCo Cohort) (RaDiCo-COLPAC)
Official title: National Cohort About Epidemiology, Clinical and Genetic Heterogeneity of the "Low-Phospholipid-Associated Cholelithiasis" (LPAC) Syndrome
Study type: OBSERVATIONAL
Overall status: ACTIVE_NOT_RECRUITING
Conditions: Low Phospholipid Associated Cholelithiasis
Lead sponsor: Institut National de la Santé Et de la Recherche Médicale, France
Sponsor class: OTHER_GOV
First posted: 2023-07-27
Enrollment: 650
Sex: ALL
Minimum age (years): 13
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: OTHER
Sampling method: NON_PROBABILITY_SAMPLE
Study population: This study concerns all prevalent and incident patients who meet the standard or extended diagnostic criteria for LPAC syndrome, whatever the existing genetic data concerning ABCB4, or who have been referred as having a mutation in the ABCB4 gene in a clinical context of biliary lithiasis.

Brief summary: The goal of this observational study is to describe the various clinical, biological and radiological manifestations of LPAC syndrome, defined according to standard diagnostic criteria, or according to criteria extended to all symptomatic recurrent biliary lithiasis, and delineate the various possible evolutions.

Participants will be followed for 5 years and the inclusion sites will collect the necessary data at least once a year as part of routine patient care. A quality of life self-questionnaire will be completed by participants during these visits.


Eligibility criteria: Inclusion Criteria:

* Children or adults meeting the standard\* or extended\*\* diagnostic criteria for LPAC syndrome:

  1. First symptoms before the age of 40 years
  2. Radiological images compatible with the existence of intrahepatic lithiasis
  3. Recurrence of symptoms after cholecystectomy

     (\*) standard criteria: symptomatic biliary lithiasis with at least 2 out of 3 criteria

     (\*\*) extended criteria: symptomatic biliary lithiasis with 1 out of 3 criteria

     Exclusion Criteria:
* Patients who have undergone liver transplantation

Primary outcomes:
measure: Descriptive analysis of the clinical manifestations of LPAC syndrome like personal and family medical history of the disease, clinical features, medical complications, co-morbidities, death (age of onset and cause).
timeFrame: Through study completion, an average of 5 years
measure: Descriptive analysis of the biological manifestations of LPAC syndrome like hepatic biochemical tests and glucido-lipid tests
timeFrame: Through study completion, an average of 5 years
measure: Descriptive analysis of the radiological manifestations of LPAC syndrome like presence of stones or signs of intrahepatic, vesicular or main bile duct micro-lithiasis
timeFrame: Through study completion, an average of 5 years
Secondary outcomes:
measure: Description of diagnostic practices by a descriptive analysis of sequences of medical procedures used to diagnose LPAC syndrome.
timeFrame: Through study completion, an average of 5 years
measure: Description of therapeutic practices by a descriptive analysis of the different curative and symptomatic treatments offered depending on the stage of the disease and the type of extra-hepatic complications.
timeFrame: Through study completion, an average of 5 years
measure: Description of patient management practices.
timeFrame: Through study completion, an average of 5 years
measure: Identification of new diagnostics by refining the collection of semiological fields of 1st degree relatives and including patients with recurrent symptomatic biliary lithiasis who do not fully meet the current diagnostic criteria for LPAC syndrome
timeFrame: Through study completion, an average of 5 years
measure: Evaluation of response to medical and interventional treatments.
timeFrame: Through study completion, an average of 5 years
measure: Identification of prognostic factors (clinical, biochemical, radiological) associated with a poor therapeutic response by assessing the occurrence of events such as : - Fatal or non-fatal complications - Death due to hepatic or other causes
timeFrame: Through study completion, an average of 5 years
measure: Assessing the impact of LPAC syndrome on quality of life.
timeFrame: Through study completion, an average of 5 years
measure: Evaluation of the proportion of patients referred to LPAC within the population referred to the hepatology and/or digestive surgery departments for biliary lithiasis during the same study period
timeFrame: Through study completion, an average of 5 years
Other outcomes:
measure: Deepening the study of the genotype/phenotype correlations of the ABCB4 gene with assessment of the number of painful attacks and complications, presence of radiological signs, measurement of biological assays, good or poor response to treatment
timeFrame: Through study completion, an average of 5 years
measure: Documenting the genetic transmission profile and heritability (penetrance) of the LPAC syndrome by analysing the phenotypes and genotypes of patients and their 1st degree relatives (whether or not they have declared illness).
timeFrame: Through study completion, an average of 5 years
measure: Search for new susceptibility genes in patients without gene alterations of ABCB4
timeFrame: Through study completion, an average of 5 years
measure: Search for modulating genes in mutated and non-mutated ABCB4 patients.
timeFrame: Through study completion, an average of 5 years
Locations:
city: Aix-en-Provence
country: France
facility: Centre Hospitalier Intercommunal Aix-Pertuis
city: Annecy
country: France
facility: Centre Hospitalier Annecy Genevois
city: Bobigny
country: France
facility: Hôpital Avicenne
city: Bordeaux
country: France
facility: Hôpital Haut-Lévêque
city: Bry-sur-Marne
country: France
facility: Hôpital Saint Camille
city: Caen
country: France
facility: Hôpital Côte de Nacre
city: Clichy
country: France
facility: Hôpital Beaujon
city: Corbeil-Essonnes
country: France
facility: Centre Hospitalier Sud Francilien
city: Créteil
country: France
facility: Centre Hospitalier Intercommunal de Créteil
city: Dijon
country: France
facility: Hôpital François Mitterrand
city: Grenoble
country: France
facility: Hôpital Michallon
city: Lille
country: France
facility: Hôpital Claude Huriez
city: Lyon
country: France
facility: Hôpital de la Croix-Rousse
city: Orléans
country: France
facility: Centre hospitalier régional d'Orléans
city: Paris
country: France
facility: Hôpital Saint-Antoine
city: Poitiers
country: France
facility: Hôpital Jean Bernard
city: Reims
country: France
facility: Hôpital Robert Debré
city: Rouen
country: France
facility: Hôpital Charles Nicolle
city: Strasbourg
country: France
facility: Hôpital Civil
city: Toulouse
country: France
facility: Hôpital Rangueil
city: Villejuif
country: France
facility: Hôpital Paul Brousse
Study officials:
affiliation: INSERM UMR_S938
name: Christophe CORPECHOT
role: PRINCIPAL_INVESTIGATOR
References: