Overview
Isolated biliary atresia (also called extrahepatic biliary atresia or BA) is a rare liver disease that affects newborns. In this condition, the bile ducts — the small tubes that carry bile from the liver to the intestine — are blocked or missing. Bile is a fluid the liver makes to help digest fats and remove waste. When bile cannot flow out of the liver, it builds up and causes serious damage to liver tissue over time. This damage is called cholestasis and can lead to liver scarring (cirrhosis) if not treated quickly. The most noticeable early signs are yellowing of the skin and eyes (jaundice) that does not go away after the first two weeks of life, pale or chalky-white stools, and dark yellow urine. Babies may also have a swollen belly and poor weight gain. These signs can look similar to normal newborn jaundice at first, which is why early testing is so important. Biliary atresia is the most common reason children need a liver transplant. The main treatment is a surgery called the Kasai procedure (hepatoportoenterostomy), which tries to restore bile flow. If done early — ideally before 60 days of age — it can slow liver damage significantly. Many children eventually need a liver transplant. With timely surgery and transplant when needed, many children can live into adulthood.
Key symptoms:
Yellowing of the skin and whites of the eyes (jaundice) lasting beyond 2 weeks of agePale, chalky, or clay-colored stoolsDark yellow or brown urineSwollen or enlarged bellyPoor weight gain or failure to thriveEnlarged liver (hepatomegaly)Enlarged spleen (splenomegaly)Itchy skinFatigue and low energyEasy bruising or bleedingFluid buildup in the belly (ascites) in advanced casesDelayed growth and development
Clinical phenotype terms (28)— hover any for plain English
Sporadic
Usually appears on its own, not inherited from a parent
Neonatal
Begins at or shortly after birth (first 4 weeks)
FDA & Trial Timeline
10 eventsUniversity of Alabama at Birmingham — EARLY_PHASE1
University Hospital, Geneva
Universitas Diponegoro — PHASE1
Institute of Liver and Biliary Sciences, India
Necmi Kadıoğlu Hospital — NA
Children's Hospital of Fudan University
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Isolated biliary atresia.
16 clinical trialsare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Isolated biliary atresia.
Community
No community posts yet. Be the first to share your experience with Isolated biliary atresia.
Start the conversation →Latest news about Isolated biliary atresia
Disease timeline:
New recruiting trial: Nutritional Intervention for Biliary Atresia
A new clinical trial is recruiting patients for Isolated biliary atresia
New recruiting trial: Molecular Characterization for Understanding Biliary Atresia
A new clinical trial is recruiting patients for Isolated biliary atresia
New recruiting trial: High Medium-chain Triglyceride Nutritional Support in Infants With Biliary Atresia
A new clinical trial is recruiting patients for Isolated biliary atresia
New recruiting trial: Preoperative Serum FGF19 in the Prognosis of Biliary Atresia
A new clinical trial is recruiting patients for Isolated biliary atresia
New recruiting trial: Stem Cell Applications in Biliary Atresia Patients
A new clinical trial is recruiting patients for Isolated biliary atresia
New recruiting trial: Treating Primary Sclerosing Cholangitis and Biliary Atresia With Vancomycin
A new clinical trial is recruiting patients for Isolated biliary atresia
New recruiting trial: Biliary Atresia Research Network Northeast
A new clinical trial is recruiting patients for Isolated biliary atresia
New recruiting trial: The Use of Near-Infrared Fluorescence Cholangiography With Indocyanine Green (ICG) in the Work Up of Neonatal Cholestasis
A new clinical trial is recruiting patients for Isolated biliary atresia
New recruiting trial: BILACO Trial: Biliary Atresia - a Severe Complex Congenital Liver Disease
A new clinical trial is recruiting patients for Isolated biliary atresia
New recruiting trial: A Prospective Database of Infants With Cholestasis
A new clinical trial is recruiting patients for Isolated biliary atresia
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.How quickly does my baby need the Kasai procedure, and what happens if it is delayed?,What are the signs that the Kasai procedure is working, and how will we monitor liver function afterward?,At what point would you recommend a liver transplant, and how do we get on the transplant waiting list?,What vitamins and nutritional supplements does my child need, and for how long?,What infections should I watch for, and when should I go to the emergency room?,Are there any clinical trials or new treatments available for biliary atresia?,What support services — such as social work, nutrition counseling, or mental health support — are available for our family?
Common questions about Isolated biliary atresia
What is Isolated biliary atresia?
Isolated biliary atresia (also called extrahepatic biliary atresia or BA) is a rare liver disease that affects newborns. In this condition, the bile ducts — the small tubes that carry bile from the liver to the intestine — are blocked or missing. Bile is a fluid the liver makes to help digest fats and remove waste. When bile cannot flow out of the liver, it builds up and causes serious damage to liver tissue over time. This damage is called cholestasis and can lead to liver scarring (cirrhosis) if not treated quickly. The most noticeable early signs are yellowing of the skin and eyes (jaundic
How is Isolated biliary atresia inherited?
Isolated biliary atresia follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Isolated biliary atresia typically begin?
Typical onset of Isolated biliary atresia is neonatal. Age of onset can vary across affected individuals.
Are there clinical trials for Isolated biliary atresia?
Yes — 16 recruiting clinical trials are currently listed for Isolated biliary atresia on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Isolated biliary atresia?
25 specialists and care centers treating Isolated biliary atresia are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.