ChiLDReN Network

The LOGIC study is a natural history study that includes patients with PFIC and three other rare liver diseases. A natural history study is aimed at acquiring information and data that will provide a better understanding of rare conditions. Participants will be asked to allow study personnel to obtain information from medical records and an interview, and to collect blood, urine, and tissue samples when clinically indicated, in order to understand the causes of these diseases and to improve the diagnosis and treatment of children with these diseases. All of the information obtained in these studies is confidential and no names or identifying information are used in the study. 

LOGIC:A longitudinal study of genetic causes of intrahepatic cholestasis.
Eligibility:Children and adults ages 6 months through 25 years diagnosed with Alagille Syndrome, alpha-1 antitrypsin deficiency, progressive familial intrahepatic cholestasis, or bile acid synthesis defects, both before and after liver transplantation. http://clinicaltrials.gov/ct2/show/NCT00571272?term=NCT00571272&rank=1

Drug Trials

There are a few pharmaceutical companies that have developed medication to control symptoms, namely itching, and possibly slow disease progression. These medications are new and still in the trial phase. So far, there is very positive patient response. If you would like more information regarding what trials are out there, please contact the site administrator.


LUM001

www.shire.com

LUM001 is a novel, once-daily, orally-administered, potent and selective ASBT inhibitor that works by preventing recycling of bile acids back to the liver and is thought to reduce bile acid accumulation, improve liver function and potentially relieve the extreme itching associated with cholestatic liver disease.

LUM001 is currently in Phase 2 clinical development for four rare cholestatic liver disease indications; two pediatric and two adult with a potential 2016 launch. These potential indications are: Alagille syndrome (ALGS), progressive familial intrahepatic cholestasis (PFIC), primary biliary cirrhosis (PBC) and primary sclerosing cholangitis (PSC).


A4250

www.albireopharma.com

A4250 is a highly potent and selective inhibitor of the ileal bile acid transporter (IBAT), sometimes also referred to as the apical sodium dependent bile acid transporter (ASBT)) that has minimal systemic exposure and acts locally in the gut. In an open label Phase 2 study in children with cholestatic liver disease and pruritus, A4250 showed reductions in serum bile acids and pruritus in most patients and exhibited a favorable overall tolerability profile.

Albireo is developing A4250 initially to treat patients with PFIC, a rare genetic liver disease, and plans to consider additional development in other pediatric cholestatic liver diseases and disorders in the future. Albireo expects to initiate a planned Phase 3 study of A4250 in patients with PFIC in the second half of 2017