Alagille Syndrome Clinical Care Program

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Alagille Syndrome Clinical Care Program

Offering comprehensive care and research

The physicians, nurses, researchers and staff of the Alagille Program are dedicated to providing comprehensive care for patients and families with Alagille syndrome (AGS). We perform research that will help to understand the causes of the disease and to identify the therapies that can help patients and families deal with the many complicated problems of Alagille syndrome.

The Alagille Syndrome Clinical Care Program is part of the Fred and Suzanne Biesecker Pediatric Liver Center at The Children's Hospital of Philadelphia. The Biesecker Pediatric Liver Center is internationally recognized for its expertise, care and research of children with liver disease.

The Alagille Program provides a multidisciplinary, multispecialty approach to Alagille syndrome. The physicians have extensive experience with a large number of Alagille syndrome families, and have designated specific experts to care for the liver, heart, kidney, bone and other complications of the disease. In addition to providing direct care for families, the clinicians in the Center have summarized their experience with important papers on the general features of Alagille syndrome, the cardiac manifestations, the vascular manifestations and other important problems facing patients with Alagille syndrome.

From research to bedside

In 1997, the clinicians and scientists in the molecular section of the Alagille Program in collaboration with others discovered that mutations in the gene Jagged 1 cause Alagille Syndrome.

In 2005, a second gene mutation in Notch 2 was found to be responsible for Alagille Syndrome for a select subset of patients. Under the leadership of Nancy Spinner, PhD, this group has performed molecular analysis for more than 250 families with Alagille Syndrome.

They have published landmark studies on the mutation spectrum and frequency in Alagille syndrome, and on the implications of carrying a mutation in Jagged 1. More than 20 physicians and scientists work collaboratively in the Program to provide the highest possible level of care and to advance the research on Alagille Syndrome.

The faculty members of the Alagille Program are active participants in the Cholestatic Liver Consortium (CLiC), funded by the National Institutes of Health, with David Piccoli, MD, and Dr. Spinner serving as the Alagille syndrome principal and co-investigator. Dr. Spinner also serves as the Chair of the Molecular Core for this consortium.

Active partnerships

Additionally, there is an active partnership between the Alagille Center and the Alagille Syndrome Alliance in the mission to provide care, support, education and research on Alagille Syndrome. The CHOP faculty members have helped organize and have participated in all five international Alagille Syndrome Family Symposia (Oregon-1999, Philadelphia-2002, Atlanta-2005, Illinois-2008 and California-2011) and numerous regional family symposia.

Most recently, the CHOP faculty produced a 4-hour video on all of the clinical and research aspects of Alagille syndrome, which is available at no cost from CHOP or from the Alagille Syndrome Alliance.

We invite you to explore our website and learn more about our Alagille Program.

Contact us

For questions or to schedule an appointment, call 1-866-KID-LIVR (1-866-543-5487).

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What is Alagille Syndrome?

This video excerpt from a daylong educational conference explains what Alagille Syndrome is, its causes, and some treatment options.

Watch the Video »