Biliary atresia and associated disorders

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1Active trials3Specialists8Treatment centers

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UniteRare data is sourced from FDA.gov, ClinicalTrials.gov, Orphanet, OMIM, and NORD.
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Overview

Biliary atresia and associated disorders (also called BA or biliary atresia spectrum) is a rare liver condition that mainly affects newborns and very young infants. In biliary atresia, the bile ducts — the small tubes that carry bile from the liver to the intestine — are blocked, scarred, or missing. Bile is a digestive fluid made by the liver. When it cannot drain properly, it builds up inside the liver and causes serious damage over time. This damage can lead to liver scarring (cirrhosis) and liver failure 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 few weeks of life, pale or chalky-white stools, and dark yellow urine. Babies may also have a swollen belly and poor weight gain. Some children have other birth differences affecting the heart, spleen, or intestines — this is sometimes called biliary atresia splenic malformation (BASM) syndrome. Treatment must happen as early as possible. The first step is usually a surgery called the Kasai procedure (hepatoportoenterostomy), which tries to restore bile flow. Many children still need a liver transplant later in life. With early surgery and transplant when needed, many children can live into adulthood, though ongoing medical care is always required.

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 liverEnlarged spleenItchy skinFatigue and low energyEasy bruising or bleedingFluid buildup in the belly (ascites) in advanced casesDelayed growth and development

Inheritance

Multifactorial

Caused by a mix of several genes and environmental factors

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗NORD ↗

FDA & Trial Timeline

2 events
Dec 2024Evaluation of the Use of Granulocyte Colony Stimulating Factor (GCSF) in Post Kasai Type 3 Biliary Atresia

National Liver Institute, Egypt — NA

TrialRECRUITING
Oct 2024Evaluation of Maralixibat in Pruritus Associated With General Cholestatic Liver Disease (EXPAND)

Mirum Pharmaceuticals, Inc. — PHASE3

TrialACTIVE NOT RECRUITING

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Treatments

No FDA-approved treatments are currently listed for Biliary atresia and associated disorders.

1 clinical trialare actively recruiting — trials can provide access to cutting-edge therapies.

View clinical trials →

Clinical Trials

1 recruitingView all trials with filters →
N/A1 trial
Evaluation of the Use of Granulocyte Colony Stimulating Factor (GCSF) in Post Kasai Type 3 Biliary Atresia
N/A
Actively Recruiting
· Sites: Cairo, Menofia Governorate · Age: 01 yrs

Specialists

3 foundView all specialists →
LS
Lesley Smith
Specialist
PI on 1 active trial
TD
Tang weibing, Dr
Specialist
PI on 1 active trial

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Biliary atresia and associated disorders.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Biliary atresia and associated disorders

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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 we wait?,What are the chances the Kasai procedure will work well enough to delay or avoid a liver transplant?,What vitamins and nutritional supplements does my child need, and how do I give them?,When should we start thinking about a liver transplant evaluation?,Are there any clinical trials or new treatments we should know about?,What signs should make me call the hospital immediately?,How will this condition affect my child's growth, development, and school life long-term?

Common questions about Biliary atresia and associated disorders

What is Biliary atresia and associated disorders?

Biliary atresia and associated disorders (also called BA or biliary atresia spectrum) is a rare liver condition that mainly affects newborns and very young infants. In biliary atresia, the bile ducts — the small tubes that carry bile from the liver to the intestine — are blocked, scarred, or missing. Bile is a digestive fluid made by the liver. When it cannot drain properly, it builds up inside the liver and causes serious damage over time. This damage can lead to liver scarring (cirrhosis) and liver failure if not treated quickly. The most noticeable early signs are yellowing of the skin and

How is Biliary atresia and associated disorders inherited?

Biliary atresia and associated disorders follows a multifactorial inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Biliary atresia and associated disorders typically begin?

Typical onset of Biliary atresia and associated disorders is neonatal. Age of onset can vary across affected individuals.

Are there clinical trials for Biliary atresia and associated disorders?

Yes — 1 recruiting clinical trial is currently listed for Biliary atresia and associated disorders on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.

Which specialists treat Biliary atresia and associated disorders?

3 specialists and care centers treating Biliary atresia and associated disorders are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.