Different Effects of Delayed Clamping on Neonatal Bilirubin Levels Between Pregnant Women With Intrahepatic...
Intrahepatic Cholestasis of PregnancyObjective:The aim of this study was to investigate the relationship between delayed cord clamping and neonatal bilirubin levels in pregnant women with intrahepatic cholestasis of pregnancy. Method:This observational prospective cohort study included a total of 200 pregnant women at 37-40 gestational weeks. Among them, 100 pregnant women with intrahepatic cholestasis of pregnancy were divided into 50 cases of immediate cord clamping group (ICC in pregnant women with ICP)and 50 cases of delayed cord clamping group(DCC in pregnant women with ICP), and 100 normal pregnant women were also divided into 50 cases of immediate cord clamping group (ICC in normal pregnant women)and 50 cases of delayed cord clamping group(DCC in normal pregnant women). The bilirubin levels of neonates in each group were compared.
A Study to Evaluate the Safety and Tolerability of Maralixibat in Infant Participants With Cholestatic...
Progressive Familial Intrahepatic CholestasisAlagille Syndrome1 moreThis study is designed to assess whether the investigational drug maralixibat, is safe and well tolerated in children <12 months of age with Alagille Syndrome [ALGS] or Progressive Familial Intrahepatic Cholestasis [PFIC].
Long Term Safety & Efficacy Study Evaluating The Effect of A4250 in Children With PFIC
Progressive Familial Intrahepatic CholestasisOpen Label Extension Study to evaluate long term safety and persistence of effect of A4250 in children with PFIC.
An Extension Study of Maralixibat in Patients With Progressive Familial Intrahepatic Cholestasis...
Progressive Familial Intrahepatic Cholestasis (PFIC)The primary objective of this open label extension study is to evaluate the long-term safety and tolerability of maralixibat.
Diet in Twin Pregnancy: the Wellness of Mother and Babies.
Twin PregnancyAntepartum Condition or Complication6 moreThe aim of this study is to evaluate how variations in maternal nutrition may affect twin pregnancy and in particular: incidence of maternal obstetric complications: gestational diabetes gestational hypertension or preeclampsia intrahepatic cholestasis (ICP) fetal growth, development and birth weight of the babies
Baby Detect : Genomic Newborn Screening
Congenital Adrenal HyperplasiaFamilial Hyperinsulinemic Hypoglycemia 1134 moreNewborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions. With a simple blood test, rare genetic conditions can be easily detected, and the early start of transformative treatment will help avoid severe disabilities and increase the quality of life. Baby Detect Project is an innovative NBS program using a panel of target sequencing that aims to identify 126 treatable severe early onset genetic diseases at birth caused by 361 genes. The list of diseases has been established in close collaboration with the Paediatricians of the University Hospital in Liege. The investigators use dedicated dried blood spots collected between the first day and 28 days of life of babies, after a consent sign by parents.
Bile Acids Metabolism and Genetic Mutation Profile in the ICP in the Indian Population
Intrahepatic Cholestasis of PregnancyGenetic Mutation1 moreIntrahepatic cholestasis of pregnancy (ICP) is a disorder characterized by itching, elevated fasting serum bile acids ≥10μmol/L (and elevated serum transaminases), with increased risks of perinatal complications, including spontaneous preterm labor, fetal distress, infant respiratory distress syndrome, meconium-stained liquor (MSL), and sudden intrauterine death (IUD). The Incidence of ICP varies from 0.1 to 15.6% of all pregnancies, with the highest cases in Chile, South Asia, America, and Scandinavia. The burden of ICP in India according to various states is as follows Punjab (3.1%), Chandigarh (4.8%), Delhi (0.79%), West Bengal (3.3%), and Lucknow (Uttar Pradesh) (2.8%).
Association of Intrahepatic Cholestasis of Pregnancy and Chronic Placental Inflammation
Cholestasis of PregnancyThis observational prospective study will help to determine if an immune process similar to allograft rejection is responsible for the occurrence of an intrahepatic cholestasis of pregnancy (ICP). If so, it would suggest the potential benefit of immunomodulatory therapeutics.
Longitudinal Study of Genetic Causes of Intrahepatic Cholestasis (LOGIC)
Liver DiseasesAlagille Syndrome1 moreCholestasis is a condition in which bile is not properly transported from the liver to the small intestine. Cholestasis can be caused by an array of childhood diseases, including the genetic diseases Alagille syndrome (ALGS), alpha-1 antitrypsin (a-1AT) deficiency, bile acid synthesis and metabolism defects, and progressive familial intrahepatic cholestasis (PFIC) or benign recurrent intrahepatic cholestasis(BRIC). This study will investigate the natural history and progression of the four previously mentioned cholestatic liver diseases to provide a better understanding of the causes and effects of the diseases.
NAtural Course and Prognosis of PFIC and Effect of Biliary Diversion
Progressive Familial Intrahepatic CholestasisThe 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: Define the natural course of disease in genetically defined PFIC1, and PFIC2 patients, 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 clinical phenotype of Bsep-deficiency or FIC1-deficiency. 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 to max 3 months after transplant surgery, follow up after surgical biliary diversion will be as long as possible. 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. If patient numbers permit, to establish genotype-phenotype relationships for the most common genetic mutations causing Bsep-deficiency or FIC1-deficiency. 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.