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.
Study Type
OBSERVATIONAL
Enrollment
150
H. Clinic (first CEIm)
Barcelona, Spain
RECRUITINGH. Vall Hebron
Barcelona, Spain
NOT_YET_RECRUITINGH. Reina Sofía
Córdoba, Spain
NOT_YET_RECRUITINGH. Dr. Negrín
Las Palmas, Spain
NOT_YET_RECRUITINGH. Gregorio Marañón
Madrid, Spain
NOT_YET_RECRUITINGHospital Universitario La Paz
Madrid, Spain
NOT_YET_RECRUITINGH. Virgen del Rocío
Seville, Spain
NOT_YET_RECRUITINGH. La Fe
Valencia, Spain
NOT_YET_RECRUITINGH. Río Hortega
Valladolid, Spain
RECRUITINGH. Miguel Servet
Zaragoza, Spain
RECRUITINGPercentage of Participants with at least One Variant in PFIC-Related Genes
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.
Time frame: At enrollment
Percentage of Participants Carrying Each Identified Variant of Genes related to PFIC
Defined as the percentage of participants carrying each identified variant of genes related to PFIC.
Time frame: At enrollment
Demographic Data: Age 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.
Time frame: At enrollment
Demographic Data: Sex 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.
Time frame: At enrollment
Demographic Data: Race/Ethnicity 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.
Time frame: At enrollment
Demographic Data: Weight 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.
Time frame: At enrollment
Demographic Data: Height 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.
Time frame: At enrollment
Demographic Data: Body Mass Index (BMI) 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.
Time frame: At enrollment
Demographic Data: Alcohol Consumption 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.
Time frame: At enrollment
Age at Cholestasis Diagnosis
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.
Time frame: At enrollment
History of Liver Disease
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.
Time frame: At enrollment
History of Diagnostic Procedures Used
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.
Time frame: At enrollment
Presence of Liver Disease Symptoms
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.
Time frame: At enrollment
History of liver or biliary disease related surgeries
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.
Time frame: At enrollment
Family history of liver disease
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.
Time frame: At enrollment
Presence or Absence of Fat-Soluble Vitamin deficiencies
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.
Time frame: At enrollment
Laboratory Analysis of Haematology - Haemoglobin
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.
Time frame: At enrollment
Laboratory Analysis of Haematology - Red Blood Cell (RBC) count
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.
Time frame: At enrollment
Laboratory Analysis of Haematology - Leukocytes
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.
Time frame: At enrollment
Laboratory Analysis of Haematology - Platelets
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.
Time frame: At enrollment
Laboratory Analysis of Chemistry - Alanine aminotransferase (ALT)
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.
Time frame: At enrollment
Laboratory Analysis of Chemistry - Aspartate aminotransferase (AST)
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.
Time frame: At enrollment
Laboratory Analysis of Chemistry - Alkaline Phosphatase (ALP)
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.
Time frame: At enrollment
Laboratory Analysis of Chemistry - Total and direct bilirubin
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.
Time frame: At enrollment
Laboratory Analysis of Chemistry - Bile Acids (sBA)
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.
Time frame: At enrollment
Laboratory Analysis of Chemistry - Gamma-Glutamyl Transferase (GGT)
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.
Time frame: At enrollment
Laboratory Analysis of Chemistry - Albumin
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.
Time frame: At enrollment
Laboratory Analysis of Coagulation - Prothrombin time
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.
Time frame: At enrollment
Laboratory Analysis of Coagulation - International Normalized Ratio (INR)
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.
Time frame: At enrollment
Frequency of Prior and Concomitant treatment for cholestatic liver disease and pruritus.
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.
Time frame: At enrollment
Comorbidities of interest (i.e., diabetes, metabolic syndrome, osteopenia/osteoporosis)
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.
Time frame: At enrollment
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