Cholestatic liver diseases
The consequences are very serious, and if not treated cholestasis will invariably progress towards cirrhosis, hepatic insufficiency, and ultimately liver transplantation.
We aim to offer therapeutic solutions for patients suffering from these diseases, by strengthening its research in the field of liver diseases.
At Genfit, we identify future drug products whose activity paves the way for the development of innovative treatments for cholestatic liver diseases.
Primary Biliary Cirrhosis (PBC)
Primary Biliary Cirrhosis (PBC) is a cholestatic liver disease characterized by the impairment of intrahepatic bile ducts.
PBC is considered a rare disease, with a prevalence of 40 cases per 100000. Women are 10 times more affected than men, and the disease accounts for 2 to 3% of deaths due to cirrhosis. Actually, the name PBC is a misnomer because cirrhosis only occurs in the late stages of the disease.
Although genetic or environmental factors are associated with the risk of PBC, the causes are still unknown, and most experts consider PBC as an autoimmune disease.
The symptoms appear progressively with time, the first signs being a generalized fatigue (in 70% of cases) and the appearance of pruritus and itching. However, most of the patients are asymptomatic in the early stage of the disease. The diagnosis is established by standard biomedical analyses including the measurement of anti-mitochondrial antibodies (AMAs, which reflect the autoimmune character), and liver enzymes such as alkaline phosphatase.
At present, the only medication for the treatment of PBC is ursodeoxycholic acid (UDCA). However, this drug is efficient in only 60% of patients. The other 40% respond weakly or not at all to the treatment, and are therefore at high risk of developing cirrhosis, liver insufficiency, and ultimately requiring a liver transplantation.
PBC is therefore a rare but serious disease with significant unmet medical needs.
Primary Sclerosing Cholangitis (PSC)
Primary sclerosing cholangitis is a cholestatic liver disease that affects extra- and intrahepatic bile ducts. Inflammation and scarring produce a narrowing of the bile ducts and leads to an accumulation of bile in the liver, provoking damages that can ultimately progress into cirrhosis and cancer.
As described for PBC, the cause is still unknown but the immune system is believed to play a major role. As well, the disease progresses slowly and the first symptoms include pruritus and abdominal pain. At the time of diagnosis, most of the patients are asymptomatic but present abnormalities in their liver function tests. The diagnosis will be completed based on a combination of biochemical, histological and imaging analyses.
This disease is often associated with inflammatory diseases of the intestine such as hemorrhagic rectocolitis, and accounts for 40% of liver abnormalities related with this disease.
It is a rare disease that affects predominantly men (70% of the patients) with an estimated prevalence of 1 to 5 cases per 10 000 persons.
Although UDCA treatment may be beneficial for some patients, there is currently no therapy that significantly reduces the risk of death or the need for liver transplantation, which still remains the only solution for patient survival.