Crigler-Najjar Syndrome2019-05-07T16:49:54-07:00

Crigler Najjar

Communication Corner

Audentes is exploring opportunities to outlicense the Crigler Najjar program to continue to advance this important gene therapy. If you have been involved in the LUSTRO or VALENS clinical studies, please contact your clinical trial site for more information.

About Crigler-Najjar Syndrome

Crigler-Najjar Syndrome (CN) is a rare, congenital autosomal recessive monogenic disease characterized by severely high levels of bilirubin in the blood and risk of irreversible neurological damage and death. CN is estimated to affect approximately one in 1,000,000 newborns. Infants with CN develop severe jaundice shortly after birth resulting in rapid presentation and diagnosis. CN is caused by mutations in the gene encoding the UGT1A1 (uridine-diphosphate (UDP)-glucuronosyltransferase (UGT) 1A1) enzyme resulting in an inability to convert unconjugated bilirubin to a water-soluble form that can be excreted from the body.

Clinical diagnosis is confirmed via genetic testing of the UGT1A1 gene. The current standard of care for Crigler-Najjar Syndrome is aggressive phototherapy for more than ten to 12 hours per day using intense LED or fluorescent light focused on the bare skin, while the eyes are shielded. Phototherapy speeds bilirubin decomposition and excretion, lowering serum bilirubin levels. Phototherapy wanes in effectiveness beginning around age four due to thickening of the skin and a reduction in surface area to body mass ratio, and a liver transplant may be required for survival.

For more information about Crigler-Najjar Syndrome, please visit the links below.

American Liver Foundation – Information about Crigler Najjar Syndrome

NIH Your Guide to Understanding Genetic Conditions – Information about Crigler-Najjar Syndrome 

NIH Genetic and Rare Diseases Information Center – Information about Crigler-Najjar Syndrome, Type 1

NIH Genetic and Rare Diseases Information Center – Information about Crigler-Najjar Syndrome, Type 2 

Community Support & Resources

Where can you find support from the Crigler Najjar community?

Below are organizations dedicated to helping the Crigler Najjar patient community around the world. Each of them offers something unique.

France

Associacion Française
de Crigler-Najjar

Learn More

Italy

Crigler-Najjar Italia Associazione Malati Iperbilirubinemici (CIAMI)

Learn More

Spain

AESCN – Asociación Española de Síndrome de Crigler Najjar

Learn More

The Netherlands

HET NAJJAR FONDS

Learn More

The United Kingdom

Children’s Liver Disease Foundation UK

The Children’s Liver Disease Foundation’s mission is to take action against the effects of childhood liver disease by:

  • Funding vital research
  • Informing and educating healthcare professionals, parents and the public on the signs and symptoms
  • Campaigning to give young people and their families one strong voice
  • Providing young adults, children and their families with tailored support services
Learn More

Metabolic Support UK (formerly known as Climb)

  • Metabolic Support UK (formerly known as Climb) are the leading patient organisation for Inherited Metabolic Disorders supporting thousands of patients worldwide. They deliver family and community services, awareness and advocacy, and information and research.
Learn More

United States

American Liver Foundation

The American Liver Foundation’s mission is to facilitate, advocate and promote education, support, and research for the prevention, treatment, and cure of liver disease.

Learn More

Global Liver Institute

The Global Liver Institute’s mission is to improve the lives of individuals and families impacted by liver disease through promoting innovation, encouraging collaboration, and scaling optimal approaches to help eradicate liver diseases.

Learn More

Henk Vreman

Scientist and Maker of Phototherapy Lights for Crigler-Najjar Syndrome

Email: Vreman@stanford.edu
Phone: 650.967.0735

Are we missing something? Please send us an email at PatientAdvocacy@audentestx.com.

Patient Stories

Read Beth’s Story on American Liver Foundation’s website. Click here.