Children’s Gets $3.75 Million Over Five Years from NIH to Study Rare Liver Diseases
from The Children's Hospital (TCH) News, November 2004
The discovery of treatments for rare liver diseases in infants is a few years closer with a five-year, $750,000-a-year grant given to The Children’s Hospital from the National Institutes of Health.
Ronald J. Sokol, MD, professor of pediatrics and program director of The Children's Hospital’s Pediatric General Clinic Research Center , will be the lead investigator for the research. The purpose of the research is to better understand five rare liver diseases and develop new treatments. Children’s will serve as the organizing center for nine clinical centers in the United States and King’s College Hospital in London . Children’s will distribute grant funding to the other centers through sub-grants. The network will be called Cholestatic Liver Disease Consortium (CLiC).
The five rare liver diseases are chronic liver diseases of infancy that frequently lead to the need for liver transplants during childhood. The liver diseases to be studied are alpha-1 antitrypsin deficiency, Alagille syndrome, Progressive familial intrahepatic cholestasis, Bile acid synthesis defects and Mitochondrial hepatopathies. Each is a rare disease, affecting fewer than 200,000 people in the United States . Doctors at Children’s see five to 10 new cases of these diseases each year in addition to patients who are followed in the years after they are diagnosed.
Some might question the need to fund research into diseases that affect so few when there are many diseases that affect many more people that still need research. Dr. Sokol said caring for children with these rare diseases is both emotionally taxing and expensive, but that can be reduced by research findings and developing new treatments. Additionally, Dr. Sokol said, “discoveries about rare diseases often affect treatment of more common diseases.” For example, he said, Thalidomide was first approved for leprosy, but now is also being studied and appears to hold promise in the treatment of many kinds of cancer.
But liver research isn’t new to Children’s. For many years, researchers here including Dr. Sokol have investigated the causes of many liver diseases, including biliary atresia, a cholestatic liver disease in which bile is not flowing out of the liver. Children’s is a part of a similar national consortium to study biliary atresia.
The goal of the research is multifold. When representatives from the nine centers gather in the coming months, they will discuss creating a database of patients with these diseases and a bank of tissues and DNA from patients and their families, training physicians to deliver care; establishing pilot projects; developing a Web site about the diseases for the public and involving patient advocacy support groups.
Hospitals involved in the network include Children’s Hospital of Pennsylvania ; Cincinnati Children’s Hospital and Johns Hopkins, among others.
