UPMC Video Rounds - Pediatric Metabolic Liver Disease

December 30, 2019


Patrick McKiernan, MD, director, Pediatric Hepatology Program:

Liver transplantation is an extremely successful treatment, but it is very invasive and we do know that children will have to take immunosuppressive drugs for the rest of their life. So one of the goals in metabolic liver disease are to try to find alternatives that are as successful as liver transplantation.

We have explored alternatives, such as liver cell transplantation. We've also been involved in the introduction of new treatments which are either drug treatments or Amgen infusions, in which a protein which is missing by the body, instead of having a liver transplantation, can be given as an infusion to prevent children become unwell.

Newborn screening has transformed management of children with metabolic liver disease. For the first time we're have an opportunity to detect children before they become unwell. The problem is when children become unwell in the newborn period they may suffer brain damage which is irreversible. And for some of these disorders we can start them on treatment which will prevent them ever becoming ill for the rest of their life and we can prevent them developing complications such as liver disease, brain damage or liver cancer.

One of the particular areas of research we're very excited about is the use of gene therapy to correct metabolic liver disease. Gene therapy for Crigler-Najjar syndrome involves a single injection. This is an injection of the gene which is missing in children and young people with Crigler-Najjar syndrome and it's enveloped in a safe virus, and this virus will then be taken up by the liver and this new gene will then start to work to correct the bilirubin metabolism and to essentially provide a functional cure for Crigler-Najjar syndrome. 

Learn more about the UPMC Division of Pediatric Gastroenterology, Hepatology, and Nutrition.