National Cohort About Epidemiology, Clinical and Genetic Heterogeneity of the "Low-Phospholipid-Associated Cholelithiasis" (LPAC) Syndrome
Overview
- Phase
- N/A
- Intervention
- Not specified
- Conditions
- Low Phospholipid Associated Cholelithiasis
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
- Enrollment
- 650
- Locations
- 21
- Primary Endpoint
- 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).
- Status
- Active, Not Recruiting
- Last Updated
- 2 months ago
Overview
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.
Investigators
Eligibility Criteria
Inclusion Criteria
- •Children or adults meeting the standard\* or extended\*\* diagnostic criteria for LPAC syndrome:
- •First symptoms before the age of 40 years
- •Radiological images compatible with the existence of intrahepatic lithiasis
- •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
Outcomes
Primary Outcomes
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).
Time Frame: Through study completion, an average of 5 years
Descriptive analysis of the biological manifestations of LPAC syndrome like hepatic biochemical tests and glucido-lipid tests
Time Frame: Through study completion, an average of 5 years
Descriptive analysis of the radiological manifestations of LPAC syndrome like presence of stones or signs of intrahepatic, vesicular or main bile duct micro-lithiasis
Time Frame: Through study completion, an average of 5 years
Secondary Outcomes
- Description of patient management practices.(Through study completion, an average of 5 years)
- Assessing the impact of LPAC syndrome on quality of life.(Through study completion, an average of 5 years)
- Description of diagnostic practices by a descriptive analysis of sequences of medical procedures used to diagnose LPAC syndrome.(Through study completion, an average of 5 years)
- 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.(Through study completion, an average of 5 years)
- 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(Through study completion, an average of 5 years)
- Evaluation of response to medical and interventional treatments.(Through study completion, an average of 5 years)
- 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(Through study completion, an average of 5 years)
- 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(Through study completion, an average of 5 years)