Rare Gastroenterology News
A rare disease of the bile ducts that affects only infants
Age of Onset
Biliary atresia, also known as extrahepatic ductopenia and progressive obliterative cholangiopathy, is a childhood disease of the liver in which one or more bile ducts are abnormally narrow, blocked, or absent. This congenital condition occurs when the bile ducts inside or outside the liver do not develop normally. Initially, the symptoms of biliary atresia are indistinguishable from those of neonatal jaundice, a usually harmless condition commonly seen in infants. However, infants with biliary atresia develop progressive conjugated jaundice, pale white stools, and dark urine.†
5 Facts you should know
It is a progressive idiopathic, necroinflammatory process that may involve a segment or the entire extrahepatic biliary tree.
Presentation may include jaundice, pale stools, or hepatomegaly.
The most common complications or sequelae are growth failure, portal hypertension, cholangitis, and ascites.
Biliary atresia should be excluded in any baby with jaundice associated with pale stools, with jaundice persisting beyond 14 days of age.
Biliary atresia is most common in East Asia, with a frequency of one in 5,000.
Interest Over Time
Common Signs & Symptoms
Dark yellow urine
Decreased liver function
Elevated alkaline phosphatase
Elevated gamma-glutamyltransferase level
High liver enzymes
Prolonged neonatal jaundice
Prolonged prothrombin time
Severe failure to thrive
Top Clinical Trials
|N-Acetylcysteine in Biliary Atresia After Kasai Portoenterostomy|| In this study, the investigators test whether intravenous N-acetylcysteine (NAC) can improve bile flow after KP. The rationale is that NAC leads to synthesis of glutathione, which is a powerful stimulator of bile flow. The primary objective is to determine whether NAC normalizes total serum bile acid (TSBA) concentrations within 24 weeks of KP. Achieving normal TSBAs is uncommon with current standard-of-care, and is predicted to be associated with better long-term outcomes. The secondary objectives are to describe how other parameters commonly followed in BA change with NAC therapy, as well as report adverse events occurring with therapy and in the first two years of life. This study follows the "minimax" Phase 2 clinical trial design.||Phase 2||Active, not recruiting||Drug: N-Acetyl cysteine||Texas Children's Hospital and Baylor College of Medicine, Houston, Texas, United States||More Information|
|Pentoxifylline Therapy in Biliary Atresia|| The purpose of this study is to determine whether pentoxifylline reduces liver damage in infants with biliary atresia. The trial's objective is to determine whether PTX has sufficient biological activity against BA to warrant further study. PTX will be administered orally for 90 days as an adjunct to standard therapy (i.e. KP if appropriate). The primary outcome will measure the change in serum conjugated bilirubin levels after 90 days. Secondary outcomes include changes in body weight, serum markers, liver imaging, and time to liver transplant in infants with BA.||Phase 2||Recruiting||Drug: Pentoxifylline||Texas Children's Hospital and Baylor College of Medicine, Houston, Texas, United States||More Information|
|Treating Primary Sclerosing Cholangitis and Biliary Atresia With Vancomycin||The purpose of this study is twofold. First, is to determine whether vancomycin is effective in the early treatment of Biliary Atresia (BA) and Primary Sclerosing Cholangitis (PSC), and if so, by what mechanism. Secondly, to characterize human intestinal microbial communities and their interactions with the host.||Phase 1||Recruiting||Drug: Oral Vancomycin||Sacramento Pediatric Gastroenterology, Sacramento, California, United States||More Information|
|Efficacy and Safety of Odevixibat in Children With Biliary Atresia Who Have Undergone a Kasai HPE (BOLD)||Double-blind, randomized, placebo-controlled, Phase 3 study to investigate the efficacy and safety of odevixibat compared to placebo in children with biliary atresia who have undergone a Kasai hepatoportoenterostomy.||Phase 3||Recruiting||Drug: Odevixibat|Drug: Placebo||Children's Hospital Los Angeles, Los Angeles, California, United States|Stanford Children's Health, Palo Alto, California, United States|Rady Children's Hospital, San Diego, California, United States|UCSF Benioff Children's Hospital San Francisco, San Francisco, California, United States|Children's Hospital Colorado, Aurora, Colorado, United States|Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware, United States|University of Miami, Miami, Florida, United States|Children's Healthcare of Atlanta - Emory University School of Medicine, Atlanta, Georgia, United States|Indiana University school of Medicine, Indianapolis, Indiana, United States|Johns Hopkins Children's Center, Baltimore, Maryland, United States|Boston Children's Hospital, Boston, Massachusetts, United States|University of Michigan Children's Hospital, Ann Arbor, Michigan, United States|Children's Mercy Hospital, Kansas City, Missouri, United States|The Children's Hospital at Montefiore, Bronx, New York, United States|Icahn School of Medicine at Mount Sinai, New York, New York, United States|NewYork-Presbyterian Morgan Stanley Children's Hospital, New York, New York, United States|Cleveland Clinic, Cleveland, Ohio, United States|Oregon Health & Science University, Portland, Oregon, United States|The Children´s Hospital of Philadelphia, Philadelphia, Pennsylvania, United States|UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, United States|UT Southwestern Medical Center, Dallas, Texas, United States|University of Utah, Salt Lake City, Utah, United States|Seattle Children's Hospital, Seattle, Washington, United States|Medical College of Wisconsin, Milwaukee, Wisconsin, United States|Women's Children's Hospital, North Adelaide, Australia|Royal Children's Hospital, Parkville, Australia|The Children´s Hospital at Westmead, Sydney, Australia|Cliniques universitaires Saint-Luc, Brussels, Belgium|UZ Gent, Gent, Belgium|CHU Sainte-Justine, Montréal, Canada|The Hospital for Sick Children, Toronto, Canada|Hôpital Femme Mère Enfant, Bron, France|Bicêtre Hospital, Le Kremlin-Bicêtre, France|Jeanne de Flandre Hospital, Lille, France|Necker University Hospital - Enfants malades, Paris, France|Charité - Universitätsmedizin Berlin, Berlin, Germany|Hannover Medical School, Hanover, Germany|Dr. von Hauner Children´s Hospital LMU, Munich, Germany|University Children´s Hospital Tuebingen, Tuebingen, Germany|Semmelweis Egyetem I.sz Gyermekgyógyászati Klinika, Budapest, Hungary|Shaare Zedek Medical Center, Jerusalem, Israel|Schneider Children´s Medical Center of Israel, Petah tikva, Israel|ASST Papa Giovanni XXIII, Bergamo, Italy|Meyer Children´s University Hospital, Florence, Italy|University Hospital of Padova, Padova, Italy|Regina Margherita Children´s Hospital, Turin, Italy|Samsung Medical Center, Seoul, Korea, Republic of|Seoul National University Children's Hospital, Seoul, Korea, Republic of|Hospital Raja Perempuan Zainab II, Kota Bharu, Malaysia|University of Malaya Medical Centre, Kuala Lumpur, Malaysia|University Medical Center Groningen, Groningen, Netherlands|Starship Child Health, Auckland, New Zealand|Instytut Pomnik-Centrum Zdrowia Dziecka, Warsaw, Poland|Hospital Universitari Vall d'Hebron, Barcelona, Spain|National Taiwan University Hospital, Taipei, Taiwan|Taipei Veterans General Hospital, Taipei, Taiwan|Hacettepe University Ihsan Dogramaci Childrens Hospital, Ankara, Turkey|Akdeniz University Medical Faculty, Antalya, Turkey|Istanbul University, Istanbul Medical Faculty, Istanbul, Turkey||More Information|
|Evaluation of Maralixibat in Biliary Atresia Response Post-Kasai||A study to evaluate the efficacy and safety of maralixibat in infants with Biliary Atresia (BA) after Hepatoportoenterostomy (HPE, also known as the Kasai procedure).||Phase 2||Recruiting||Drug: Maralixibat|Other: Placebo||Medstar Georgetown University Hospital, Washington, District of Columbia, United States|Ochsner Clinic Foundation, New Orleans, Louisiana, United States|Columbia University Irving Medical Center, New York, New York, United States|UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, United States|Hannover Medical School, Hanover, Germany|Instytut Pomnik-Centrum Zdrowia Dziecka, Warsaw, Poland|King's College Hospital NHS, London, United Kingdom||More Information|
Top Treatments in Research
|Agent||Class/Mechanism of Action||Development Status||Company||Company Contact||Clinical Studies||More Information|
|BylvayTM (odevixibat)||odevixibat is a potent, non systemic ileal bile acid transport inhibitor (IBATi)||Phase 3||Albireo Pharma, Inc.|| 1 (857) 378-2035 email@example.com ||More Info||More Information|
|Maralixibat||Maralixibat works by blocking an important bile acid transport protein on the surface of the small intestine. This results in more bile acids being excreted in the feces. This leads to lower levels of bile acids systemically, thereby potentially reducing bile acid mediated liver damage and the related effects and complications. |
Maralixibat inhibits the apical sodium dependent bile acid transporter (ASBT), thereby preventing bile acids from accumulating in the liver.
|Phase 2/3||Mirum Pharmaceuticals, Inc.|| Clinical Trials Mirum 1650667-4085 firstname.lastname@example.org |
Medinfo Mirum email@example.com
|More Info||More Information|
|N-Acetyl cysteine||N-acetyl cysteine (NAC) is used by the body to build antioxidants. Antioxidants are vitamins, minerals, and other nutrients that protect and repair cells from damage.||Phase 2||Clinical study sponsored by Baylor College of Medicine||Sanjiv Harpavat, MD PhD 832-824-2099 ext 2144 firstname.lastname@example.org||More Info||More Information|
|Pentoxifylline||Pentoxifylline belongs to a class of drugs known as hemorrheologic agents. It works by helping blood flow more easily through narrowed arteries. This increases the amount of oxygen that can be delivered by the blood when the muscles need more (such as during exercise) thereby increasing walking distance and duration.||Phase 2||Clinical study sponsored by Baylor College of Medicine||Sanjiv Harpavat, MD PhD 832-824-2099 ext 2144 email@example.com |
Ross Shepherd, MD 832-824-2099 ext 1223 Ross.Shepherd@bcm.edu
|More Info||More Information|
† Genetic and Rare Diseases Information Center (GARD) - PO Box 8126, Gaithersburg, MD 20898-8126 https://rarediseases.info.nih.gov