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NCT07185919
This study will collect information from people with Progressive Familial Intrahepatic Cholestasis (PFIC) as they use odevixibat in their daily lives. Odevixibat is a medicine that helps people with PFIC, a type of rare disease that makes their liver not work well and causes itching and yellow skin. Odevixibat was first allowed to be used for PFIC in babies older than 6 months by the European Medicines Agency (EMA) on 16 July 2021 and by the United States Food and Drug Administration (FDA) on 20 July 2021 for itching in babies older than 3 months. Obevixibat was approved by the Ministry of Food and Drug Safety (MFDS) in South Korea on 23 August 2024. This study will collect information to see how well and how safe odevixibat is in the long run for participants in South Korea.
NCT07191704
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.
NCT03659916
Open Label Extension Study to evaluate long term safety and persistence of effect of A4250 in children with PFIC.
NCT07293897
This study is a database study in Japan for maralixibat (TAK-625) used to treat participants with Alagille Syndrome (ALGS) and Progressive Familial Intrahepatic Cholestasis (PFIC). The main aim of the study is to evaluate the risk of liver disorder during the use of maralixibat in Japanese patients with ALGS or PFIC. This database study will conduct in use of medical database called Comprehensive and Informative Registry system for Childhood Liver Disease (CIRCLe).
NCT05582447
Objective: The investigators propose to perform ektacytometry on 20 pediatric patients over age one with cholestatic liver diseases and a direct bilirubin level of greater than 2 gm/dl. The most common diagnoses will be extrahepatic biliary atresia, progressive familial intrahepatic cholestasis, Alagille syndrome, autoimmune hepatitis, primary sclerosing cholangitis, and parenteral nutrition-associated cholestasis. The investigators will correlate the osmotic fragility and deformability with direct bilirubin levels, serum cholesterol levels, serum bile acid levels, and vitamin E levels. Design/Methods: This pilot study will be a single center, prospective cross-sectional investigation of red blood cell ektacytometry in pediatric patients with extrahepatic cholestasis who are followed at Cincinnati Children's Hospital Medical Center. The study will include all participants with cholestasis regardless of the etiology in order to maximize the number of participants. While the population will be heterogeneous, the investigators will stratify participants according to diagnosis, recognizing that only a few participants may fall into each diagnostic category. Ektacytometry will be the method utilized to measure osmotic fragility and deformability of the RBC membrane. The ektacytometry of red cells from cholestatic patients will be compared to that of red cells obtained from contemporaneous age-matched controls recruited among patients without liver disease or red cell membrane defects undergoing blood sampling for evaluation of other entities including but not confined to functional abdominal pain.
NCT05543187
The main aim of the study is to check if TAK-625 improves symptoms of Progressive Familial Intrahepatic Cholestasis (PFIC), side effect from the study treatment or TAK-625, and how much TAK-625 stays in their blood over time. This will help the study sponsor (Takeda) to work out the best dose to give people in the future. The participants will be treated with TAK-625 for up to the end of study (about 34 months). Participants will visit their study clinic 15 times from the start of study. After 15 times visits, participants will visit their study clinic every 12 weeks up to the end of study.
NCT06049680
Evaluate the risk of developing EFAD and/or PNAC in adult and pediatric patients 1 month of age and older, who are anticipated to need 8 weeks or longer of parenteral nutrition treatment with SMOFlipid.
NCT01072721
Early diagnosis of liver fibrosis is useful for the follow-up and treatment of chronic liver disease. At present, the unique validated method to evaluate the liver fibrosis in children, is the liver biopsy which is an invasive method. If the elastometry method is proved to be a good method to evaluate the fibrosis in children, a numerous liver biopsy could be avoided.
NCT02929303
This is an expanded access protocol for use of intravenous fish oil infusion, Omegaven, in infants and children with parenteral nutrition associated liver disease (PNALD) to decrease elevated liver enzymes and direct bilirubin. This study aims to describe the response of PNALD after use of Omegaven by normalization of serum levels of liver enzymes and bilirubin.
NCT06183242
Chronic diffuse liver disease implies liver damage of various origin - viral hepatitis, the effect of xenobiotics (alcohol, drugs, medications, industrial toxins), metabolic disorders, non-alcoholic fatty liver disease. Intrahepatic cholestasis syndrome, or bile retention, occurs in 11-55% of cases of diffuse chronic liver diseases, usually leads to a worsening of the liver disease, a decrease in the effectiveness of treatment. The drug REMAXOL® is a solution for infusion, which has shown high effectiveness in the syndrome of intrahepatic cholestasis in cases of liver dysfunction due to acute or chronic damage. The study drug REMAXA® enteric-coated tablets is a hybrid drug which contains the same active metabolites as REMAXOL, i.e. inosine, methionine, nicotinamide, and succinic acid. The purpose of this study is to select the optimal dose and dosage regimen followed by evaluation safety and efficacy of REMAXA®, enteric-coated tablets, in comparison with REMAXOL®, solution for infusion, in patients who suffer from chronic diffuse liver diseases and have intrahepatic cholestasis.
NCT06778174
The project has the following general aims: 1. Natural course and prognosis: To prospectively follow the natural course and prognosis of the different types of PFIC, to broaden the understanding of the different very rare diseases and to allow predictions about the course of disease in different types of PFIC. 2. Efficacy: To define the course of disease in FIC patients and identify associations with different treatments (symptomatic treatments, interruption of the enterohepatic circulation by surgical or medical means and other therapies such as corrector/potentiator or exon skipping therapy. The course of disease will be characterized by biochemical, clinical and surgical parameters, including liver transplantation. 3. Safety: To define the complications associated with the different treatments (symptomatic treatments, interruption of the enterohepatic circulation by surgical or medical means and other therapies such as corrector/potentiator or exon skipping therapy, liver transplantation). Follow up will be as long as possible. 4. (Surrogate) biomarker response: Biochemical parameters will be longitudinally collected and associated with changes in treatments / course of disease. 5. Genotype-phenotype relationships: If patient numbers permit, to establish genotype-phenotype relationships for (non)responsiveness towards different treatments in patients with genetic mutations causing the different forms of FIC disease.
NCT06781242
Genotype-phenotype relationship between adult cryptogenic cholestasis and mutations in genes responsible for progressive familial intrahepatic cholestasis
NCT03930810
The natural course of PFIC syndromes and the effect of diversion techniques, have so far not been characterized in a rigorous manner within a larger population of patients. In fact, the clinical or biochemical parameters which most directly define and/or predict the success of reduced enterohepatic circulation (either by surgical diversion or medically) are still unclear. The present project aims to: 1. Define the natural course of disease in patients with genetically defined FIC1 deficiency (PFIC1), BSEP deficiency (PFIC2), MDR3 deficiency (PFIC3) and other subtypes of the PFIC disease family (including e.g. Myo5B deficiency, TJP2 deficiency, a.o.), with respect to relevant biochemical and clinical parameters (and if available, histological). Included will be patients homozygous for a known, disease-causing mutation, patients compound homozygous for two disease-causing mutations or heterozygous for one disease-causing mutation in combination with the corresponding clinical phenotype . 2. Define the change in the natural course of disease in response to biliary diversion surgery and or liver transplantation, based on short- and long(er)-term changes in biochemical (if available, histological) and clinical parameters, including outcome measures. Follow up after transplantation will be limited, follow up after surgical biliary diversion will be as long as possible. 3. Assessment of biochemical variables as possible surrogate endpoints for clinical hard endpoints. If possible this allows for identification of low-risk to high-risk patients early during follow-up. 4. If patient numbers permit, to establish genotype-phenotype relationships for the most common genetic mutations causing the indicated diseases. Based on this project it is anticipated that the investigators are able: * to characterize the variation in natural course of disease (whether or not genotype dependent) to allow clinicians to rationally select a target population for assessing the effect of medical intervention, rather than surgical biliary diversion); * to identify and qualify one or more biomarkers that independently predict either improved or poor clinical outcomes of surgical biliary diversion; * to investigate if the identified biomarker(s) can be used as surrogate end point(s) for assessing and predicting outcomes with novel interventional strategies.
NCT06777914
This is a cross-sectional, multicenter tissue study with an exploratory aim to estimate the prevalence of genetic mutations that predispose individuals to diseases in the context of cholestatic disorders and hepatobiliary neoplasms. It is intended as a hypothesis-generating study for future empirical investigations.
NCT06610695
Purpose The primary goal is to study liver diseases with defects in bile excretion. Investigators aim to do this using a radioactive tracer that mimics human bile and can be visualized with a PET/CT scanner. This will help us understand where these defects occur and how they might be treated in the future. Background Patients with liver diseases affecting bile excretion are at risk of developing cirrhosis. When bile cannot be excreted normally, it accumulates in the liver, damaging its function. It can also build up in the skin, causing yellowing and itching. Currently, patients are monitored using blood tests that do not always reflect the severity of liver disease. There are a few medications available, but they have limited efficacy. Advanced PET/CT scanning with the radioactive tracer 11C-Csar offers a way to investigate this. 11C-Csar has been developed, tested, and approved for human use at Aarhus University Hospital and has been used in previous patient studies. The study aims to use this method to show how 11C-Csar moves through the liver and bile ducts in both healthy individuals and patients with a genetic liver disease. Investigators aim to: * Observe how defects affect the liver handling of bile acids. * Determine the excretion kinetics of 11C-Csar, including specific rate constants. * Compare standard blood tests with 11C-Csar PET/CT findings to assess how well blood tests reflect actual liver damage. * Visualize potential targets for future interventions. Study Plan The scientific study involves a single examination day at the Department of Nuclear Medicine and PET. Participants will arrive fasting in the morning. An intravenous line will be placed in both arm veins, a catheter in a wrist vessel, and a hepatic vein catheter. The hepatic vein catheter will be inserted by a trained liver specialist using local anesthesia and ultrasound guidance, confirmed by X-ray. The tracer 11C-Csar and the dye indocyanine green (ICG) will be administered through the IV lines. ICG will be infused 90 minutes before scanning, and 11C-Csar will be administered at the start of the scan. Blood samples will be taken from the liver and wrist during the scan, which lasts about 45 minutes. After the scan, the catheters will be removed, and the participant can go home shortly after. Approximately 250-300 ml of blood will be drawn, which poses no risk to the participants. The total participation time is expected to be around 4 hours. Some patients may be offered a second scan if they develop new symptoms, repeating the scan when liver blood tests normalize. Participants Patients with bile accumulation liver diseases will be informed of the study during visits to the Department of Hepatology and Gastroenterology, AUH. Healthy controls will be recruited through advertisements on webpages dedicated for the purpuse. Interested individuals will receive written information. Side Effects, Risks, and Discomfort The risk of phlebitis and bleeding from IV insertion is minimal, as these procedures are performed daily. The total radiation exposure from the PET/CT scan with 11C-Csar is 2.5 mSv. Funding The study is researcher-initiated, with no financial interests for the involved researchers. Publication of Results Both negative, positive, and inconclusive results will be published. The study results will be submitted to peer-reviewed international journals in liver disease and/or radiology and presented at national and international scientific conferences. Ethics The study will be conducted following the principles of the Helsinki Declaration II with amendments and after approval by the Regional Ethics Committee for Midtjylland. While there is no immediate benefit for patients, the results will enhance our understanding of liver disease with bile acid accumulation. Investigators believe the risks and potential side effects are outweighed by the expected benefits.
NCT06604923
Purpose The primary purpose is to use an imaging diagnostic method to examine how the medication for primary biliary cholangitis (PBC) works. This will be studied using a radioactive tracer that behaves like human bile and can be observed with a PET/CT scanner. The aim is to gain insight into the disease mechanisms and how the medication affects them. The standard treatment for PBC is ursodeoxycholic acid, also known as Ursochol, which stimulates bile flow. If treatment with Ursochol is insufficient, bezafibrate can be added. The effectiveness of treatment is currently monitored through blood tests, which do not necessarily reflect the severity of the liver disease. However, this can be assessed using advanced PET/CT scans with a radioactive tracer, 11C-CSAR, which quickly clears from the body. The purpose of this study is to use the method to show how 11C-CSAR moves through the liver and bile ducts in PBC patients before and after treatment with either Ursochol or a combination of Ursochol and bezafibrate. We aim to: * Observe how the disease affects the liver\'s handling of bile salts and how this changes with medication. * Determine the excretion kinetics of 11C-CSAR, including specific rate constants. * Assess changes in liver blood flow before and after treatment. * Compare routine blood tests with 11C-CSAR PET/CT findings to evaluate how well blood tests reflect actual liver involvement. Study Plan The scientific study involves two examination days. Both days follow the same procedure. Participants must arrive fasting on the examination day. An intravenous catheter will be placed in each arm, a catheter in a wrist vessel, and a liver vein catheter. The liver vein catheter will be inserted by a trained liver doctor through a small sheath in a neck vein, guided by ultrasound, and the final placement will be confirmed with fluoroscopy. The tracer 11C-CSAR and the dye indocyanine green (ICG) will be administered through the intravenous lines. ICG will be given as a constant infusion 90 minutes before the scan to distribute in the tissue. The tracer will be injected just before the scan. Blood samples will be taken from the liver catheter and wrist catheter during the scan, which lasts approximately 45 minutes. After the scan, the catheters will be removed, and the participant can leave shortly afterward. About 250-300 ml of blood will be drawn during the scan, which will have no significant impact on participants. The entire process is expected to take about four hours. Study Participants Our goal is to include 20 newly diagnosed PBC patients and 10 patients who do not respond to standard treatment and are about to begin bezafibrate. Some participants may complete both parts of the study. If newly diagnosed patients do not respond sufficiently to Ursochol and need to start bezafibrate while the study is ongoing, they may participate both before and after starting Ursochol and bezafibrate.
NCT04718961
Part 1 is an open-label randomized study of volixibat in patients with Intrahepatic Cholestasis of Pregnancy (ICP) and elevated serum bile acid concentrations (sBA) to evaluate safety and tolerability of two doses of volixibat. Part 2 is a double-blind, placebo controlled, study designed to evaluate the safety and efficacy of a selected volixibat dose.
NCT06364969
This study hopes investigate the itch-inducing ability of different potential pruritogen candidates of cholestasis pruritus, especially the intrahepatic cholestasis of pregnancy (ICP). In this study, a combination of skin application and needle-free subcutaneous injection was used to investigate whether human endogenous molecules can cause itching. And a questionnaire is used to quantify the intensity of different candidates-induced itch.
NCT02963077
The primary objectives of the study are to evaluate the safety, tolerability and pharmacokinetics of A4250 after single or multiple oral doses in healthy subjects. In addition, will evaluate A4250 in combination with cholestyramine.
NCT03905330
The purpose of this study is to determine whether the investigational treatment (maralixibat) is safe and effective in pediatric participants with Progressive Familial Intrahepatic Cholestasis (PFIC).