New Research Center Focuses on Finding Better Treatments for Rare Liver Diseases

A first-of-its-kind research center at Cincinnati Children’s is dedicated to finding answers for patients with progressive familial intrahepatic cholestasis (PFIC) and related diseases.

Launched in January 2022, the Undiagnosed and Rare Liver Disease Center focuses on translational and clinical research to improve outcomes and seek a cure for these diseases. Integrative approaches—including in vitro studies, in vivo modeling, clinical trials and a comprehensive patient registry—will lead to novel therapies and a reduced need for liver transplantation for children with PFIC.

The center is funded by a $1.5 million gift from the Peter and Tommy Fund, which the Colucci family established after losing two young boys to PFIC in the 1960s and ’70s.

People with PFIC

People with PFIC usually begin to experience symptoms in infancy. One of the first signs is often jaundice, followed by severe and debilitating itching. Other signs may include poor growth, portal hypertension, enlargement of the liver and spleen, bleeding or easy bruising, and deficiencies in vitamins A, D, E and K.

These symptoms are caused by a blockage of draining bile from the liver to the intestine, which damages liver cells and creates waste buildup in the bloodstream. Without treatment, PFIC can lead to cirrhosis and end-stage liver disease. Most patients may eventually require a liver transplant. Current therapies focus on minimizing growth failure and decreasing discomfort while patients wait for surgery.

When Peter and Thomas Colucci were born, the liver transplants that may have saved their lives were unavailable. In 1968, Tommy died at the age of 5. Peter died in 1973 at the age of 13.

The boys’ mother, Carmela Colucci, set out to help other children and families fight this battle. She established the Peter and Tommy Fund, which supports clinical research and treatment of pediatric liver disease.

Colucci met William Balistreri, MD, an expert in liver disease at Cincinnati Children’s, many years ago. After discussing PFIC in-depth and talking about Peter and Tommy’s story, they began a collaboration. In 2020, the Colucci family reached out to Balistreri to develop a new plan—establishing a PFIC Research Center.

Pioneering Discoveries

The Liver Care Center at Cincinnati Children’s has provided expert care for children with PFIC for the last 25 years. It was the first pediatric center to develop a clinical diagnostic test to screen for gene mutations. The team was among the first to offer external and internal biliary diversion procedures to decrease itching.

In the lab, researchers at Cincinnati Children’s are using human tissues, stem cells from patients, mouse models and unique zebrafish models to study PFIC. These innovative approaches give insights into the cellular causes of PFIC, different types of genetic mutations and new pharmacologic therapies to improve liver function.

The new Undiagnosed and Rare Liver Disease Center builds on this expertise to incorporate clinical care, research, advocacy and educational components. The short-term goals of the center include building a patient registry, establishing a PFIC-dedicated clinic and developing new drugs to potentially halt the progression of the disease. In the long term, the team plans to run pre-clinical studies of therapeutic agents and establish a national-international alliance for clinical PFIC research.

(Published February 2022)

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