PFIC - Progressive Familial Intrahepatic Cholestasis
Conditions
Keywords
Cholestasis
Brief summary
Progressive Familial Intrahepatic Cholestasis (PFIC) is a group of inherited conditions that affect how bile moves in the liver, which can lead to serious liver problems. Doctors usually recommend genetic testing for patients with unexplained bile issues-after ruling out more common causes-to better understand the problem. However, there isn't much information on how common these genetic changes are in adults with these liver issues, especially in Spain. This study will observe these genetic changes so that doctors can diagnose the condition more clearly and create personalized treatment plans. This study will be conducted in several centers across Spain for 10 months. Each adult participant will take part in a single-day visit where their health information will be collected, and a blood sample will be taken for both routine tests and genetic analysis.
Interventions
None listed
Sponsors
Ipsen
Study design
Observational model
COHORT
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* Adult patients (≥18 years old) with written informed consent prior to data collection and study procedures. * Unexplained recurrent and/or chronic cholestasis (idiopathic cholestasis), defined as alkaline phosphatase (ALP) or Gamma-Glutamyl Transferase (GGT) \> Upper Limit of Normal (ULN). * Patients who provide the blood sample for the genetic analysis.
Exclusion criteria
* Patients with clear and confirmed diagnosed causes of cholestasis, including: * Primary Biliary Cholangitis * Primary or Secondary Sclerosing Cholangitis * Obstruction of the bile ducts * Other Liver diseases: cholestasis secondary to hepatocellular injury, viral hepatitis (mainly Hepatitis A virus \[HAV\], Hepatitis B virus \[HBV\] and Hepatitis C virus \[HCV\]), toxic hepatitis (pharmacological; drug-induced liver injury \[DILI\]), autoimmune hepatitis; intestinal failure, total parenteral nutrition \[TPN\]; Wilson's disease, choledochal cyst, Caroli Syndrome, and thick bile due to haemolysis.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Percentage of Participants with at least One Variant in PFIC-Related Genes | At enrollment | Defined as the percentage of participants with at least one variant in PFIC-related genes in relation to the total number of participants with idiopathic recurrent and/or chronic cholestasis of the study cohort as an assessment of prevalence. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Percentage of Participants Carrying Each Identified Variant of Genes related to PFIC | At enrollment | Defined as the percentage of participants carrying each identified variant of genes related to PFIC. |
| Demographic Data: Age at Enrollment | At enrollment | Defined as the mean age of participants recorded at the time of enrollment, as noted in medical records, stratified by the PFIC type - comparing those with the most prevalent PFIC variant against all other participants. |
| Demographic Data: Sex at Enrollment | At enrollment | Defined as the count of sex of participants recorded at the time of enrollment, as noted in medical records, stratified by the PFIC type - comparing those with the most prevalent PFIC variant against all other participants. |
| Demographic Data: Race/Ethnicity at Enrollment | At enrollment | Defined as the race/ethnicity of participants recorded at the time of enrollment, as noted in medical records, stratified by the PFIC type - comparing those with the most prevalent PFIC variant against all other participants. |
| Demographic Data: Weight at Enrollment | At enrollment | Defined as the mean weight participants recorded at the time of enrollment, as noted in medical records, stratified by the PFIC type - comparing those with the most prevalent PFIC variant against all other participants. |
| Demographic Data: Height at Enrollment | At enrollment | Defined as the mean height participants recorded at the time of enrollment, as noted in medical records, stratified by the PFIC type - comparing those with the most prevalent PFIC variant against all other participants. |
| Demographic Data: Body Mass Index (BMI) at Enrollment | At enrollment | Defined as the mean BMI, calculated by dividing participant's weight in kilograms by the square of their height in meters (BMI = weight ÷ height²), as noted in medical records, stratified by the PFIC type - comparing those with the most prevalent PFIC variant against all other participants. |
| Demographic Data: Alcohol Consumption at Enrollment | At enrollment | Defined as the mean of standard drinks in a week to assess the alcohol consumption, recorded at the time of enrollment, as noted in medical records, stratified by the PFIC type - comparing those with the most prevalent PFIC variant against all other participants. |
| Age at Cholestasis Diagnosis | At enrollment | Defined as the mean participant's age when first symptoms were reported, as noted in medical records or participant recollection, stratified by the PFIC type - comparing those with the most prevalent PFIC variant against all other participants. |
| History of Liver Disease | At enrollment | Defined as the count of presence of liver conditions such as gallstones, pancreatitis, and cirrhosis (among other relevant conditions), as noted in medical records, stratified by the PFIC type - comparing those with the most prevalent PFIC variant against all other participants. |
| History of Diagnostic Procedures Used | At enrollment | Defined as the count of presence of diagnostic procedures performed, including liver biopsy and elastography (Fibroscan) as noted in medical records, stratified by the PFIC type - comparing those with the most prevalent PFIC variant against all other participants. |
| Presence of Liver Disease Symptoms | At enrollment | Defined as the count of presence of liver condition symptoms such as jaundice, pruritus and disease-related fatigue, as noted in medical records or participant recollection, stratified by the PFIC type - comparing those with the most prevalent PFIC variant against all other participants. |
| History of liver or biliary disease related surgeries | At enrollment | Defined as the count of history of liver or biliary disease related surgeries, such as cholecystectomy, liver transplantation, surgical biliary diversion (SBD) or other liver-related surgery, as noted in medical records, stratified by the PFIC type - comparing those with the most prevalent PFIC variant against all other participants. |
| Family history of liver disease | At enrollment | Defined as the count of family history of liver disease, such as the presence or absence of PFIC, intrahepatic cholestasis of pregnancy (ICP), benign recurrent intrahepatic cholestasis (BRIC), low-phospholipid-associated cholelithiasis (LPAC), portal hypertension, hepatocellular carcinoma, cholangiocarcinoma, pancreatitis, gallstones, cirrhosis, cholestatic drug induced liver injury (DILI), Metabolic dysfunction-associated fatty liver disease (MASLD), Non-alcoholic Steatohepatitis (MASH) and any other chronic liver disease, and which close relative has suffered it (parent, grandparent, sibling, etc.), as noted in medical records or participant recollection, stratified by the PFIC type - comparing those with the most prevalent PFIC variant against all other participants. |
| Presence or Absence of Fat-Soluble Vitamin deficiencies | At enrollment | Defined as the count of presence or absence of vitamin deficiencies, such as vitamin A, D, E and K and supplementation, as noted in medical records or participant recollection, stratified by the PFIC type - comparing those with the most prevalent PFIC variant against all other participants. |
| Laboratory Analysis of Haematology - Haemoglobin | At enrollment | Defined as the last recorded routine analysis of haemoglobin, stratified by the PFIC type - comparing those with the most prevalent PFIC variant against all other participants. |
| Laboratory Analysis of Haematology - Red Blood Cell (RBC) count | At enrollment | Defined as the last recorded routine analysis of RBC count, as noted in medical records, stratified by the PFIC type - comparing those with the most prevalent PFIC variant against all other participants. |
| Laboratory Analysis of Haematology - Leukocytes | At enrollment | Defined as the last recorded routine analysis of leukocytes, as noted in medical records, stratified by the PFIC type - comparing those with the most prevalent PFIC variant against all other participants. |
| Laboratory Analysis of Haematology - Platelets | At enrollment | Defined as the last recorded routine analysis of platelets, as noted in medical records, stratified by the PFIC type - comparing those with the most prevalent PFIC variant against all other participants. |
| Laboratory Analysis of Chemistry - Alanine aminotransferase (ALT) | At enrollment | Defined as the recorded routine analysis of ALT, as noted in medical records, stratified by the PFIC type - comparing those with the most prevalent PFIC variant against all other participants. |
| Laboratory Analysis of Chemistry - Aspartate aminotransferase (AST) | At enrollment | Defined as the recorded routine analysis of AST, as noted in medical records, stratified by the PFIC type - comparing those with the most prevalent PFIC variant against all other participants. |
| Laboratory Analysis of Chemistry - Alkaline Phosphatase (ALP) | At enrollment | Defined as the recorded routine analysis of ALP, as noted in medical records, stratified by the PFIC type - comparing those with the most prevalent PFIC variant against all other participants. |
| Laboratory Analysis of Chemistry - Total and direct bilirubin | At enrollment | Defined as the recorded routine analysis of total and direct bilirubin, as noted in medical records, stratified by the PFIC type - comparing those with the most prevalent PFIC variant against all other participants. |
| Laboratory Analysis of Chemistry - Bile Acids (sBA) | At enrollment | Defined as the recorded routine analysis of sBA, as noted in medical records, stratified by the PFIC type - comparing those with the most prevalent PFIC variant against all other participants. |
| Laboratory Analysis of Chemistry - Gamma-Glutamyl Transferase (GGT) | At enrollment | Defined as the recorded routine analysis of GGT, as noted in medical records, stratified by the PFIC type - comparing those with the most prevalent PFIC variant against all other participants. |
| Laboratory Analysis of Chemistry - Albumin | At enrollment | Defined as the recorded routine analysis of albumin, as noted in medical records, stratified by the PFIC type - comparing those with the most prevalent PFIC variant against all other participants. |
| Laboratory Analysis of Coagulation - Prothrombin time | At enrollment | Defined as the recorded routine analysis of prothrombin time, as noted in medical records, stratified by the PFIC type - comparing those with the most prevalent PFIC variant against all other participants. |
| Laboratory Analysis of Coagulation - International Normalized Ratio (INR) | At enrollment | Defined as the recorded routine analysis of INR, as noted in medical records, stratified by the PFIC type - comparing those with the most prevalent PFIC variant against all other participants. |
| Frequency of Prior and Concomitant treatment for cholestatic liver disease and pruritus. | At enrollment | Defined as the count of prior and concomitant treatment for cholestatic liver disease and pruritus: ursodeoxycholic acid (UDCA), cholestyramine, rifampicin, fibrates, ileal bile acid transporter inhibitors (IBATi), selective serotonin reuptake inhibitors (SSRI), opioid antagonists, Chaperones (4- phenylbutyrate, \[4-PB\]) skin emollients or others, as noted in medical records or participant recollection, stratified by the PFIC type - comparing those with the most prevalent PFIC variant against all other participants. |
| Comorbidities of interest (i.e., diabetes, metabolic syndrome, osteopenia/osteoporosis) | At enrollment | Defined as the count of comorbidities of interest, such as diabetes, metabolic syndrome, osteopenia/osteoporosis, as noted in medical records or participant recollection, stratified by the PFIC type - comparing those with the most prevalent PFIC variant against all other participants. |
Countries
Spain
Contacts
STUDY_DIRECTORIpsen Medical Director
Ipsen
Outcome results
None listed