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Primary sclerosing cholangitis (PSC) is described in the packet definition as a rare, slowly progressive liver disease characterized by inflammation and destruction of the intra- and/or extra-hepatic bile ducts, leading to cholestasis, liver fibrosis, liver cirrhosis and ultimately liver failure. Orphanet classifies its prevalence as uncommon, at approximately 1 to 9 per 100,000 people; the packet does not specify a population or region for this estimate.
The packet lists 51 annotated features, of which a subset is shown. Features with a frequency of 80-99 percent (very frequent) are abnormal biliary tract morphology, cholestasis and autoimmunity. Features with a frequency of 30-79 percent (frequent) include portal hypertension, ascites, enlargement of the liver and spleen, weight loss, fever, elevated hepatic transaminases, elevated alkaline phosphatase of hepatic origin, cirrhosis, hepatic fibrosis and ulcerative colitis, along with spider hemangioma, palmar telangiectasia and dilated superficial abdominal veins. Occasional features (5-29 percent) include celiac disease, low albumin, polyclonal elevation of IgM, reduced vitamin A, prolonged prothrombin time and generalized amyotrophy. Age of onset is not certified in this packet, and experiences vary between individuals.
No causative genes and no inheritance pattern are certified for primary sclerosing cholangitis in this packet, so the genetic basis is not described here. The packet lists an OMIM entry (613806) and records autoimmunity as a very frequent feature, but it does not state a cause.
Diagnostic methods are not certified in this packet. The annotated features above include biliary tract abnormalities and elevated alkaline phosphatase of hepatic origin, which the packet lists as features of the condition rather than as diagnostic criteria.
No FDA-approved treatments are certified in this packet, and foundational therapies are not listed, so the packet does not establish a current approved option for this condition. FDA orphan-drug records list many investigational products with DESIGNATED status for this indication. Designation is a development-stage status and is not an approval; a few records carry WITHDRAWN status. Additional care approaches, including supportive and multidisciplinary management, are not certified in this packet and are not described here.
45 trials found
The packet definition describes the disease as slowly progressive, with bile duct inflammation and destruction that lead to cholestasis, fibrosis, cirrhosis and ultimately liver failure. No survival figures or individual-level outlook are certified in this packet, and the course varies between individuals.
ClinicalTrials.gov records in the packet indicate active research. Examples include NCT05627362, a Phase 2 study of elafibranor in adults with PSC sponsored by Ipsen (active, not recruiting, started 2022-12-29); NCT07387549, a Phase 3 study of elafibranor in adults with PSC sponsored by Ipsen (recruiting, started 2026-05-14); and NCT06286709, a Phase 2 study of faecal microbiota transplantation in PSC sponsored by the University of Birmingham (recruiting, started 2024-03-27). Trial listings change over time, and the ClinicalTrials.gov search page provides current records.
Data assembled from 7 of 12 sources · Last updated Nov 2, 2026, 10:04 AM UTC
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Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
AI-curated news mentioning primary sclerosing cholangitis
Updated Oct 16, 2026
Recent research explores microbiome-targeted therapies for primary sclerosing cholangitis, highlighting potential new treatment avenues. This study contributes to the understanding of the microbiome's role in this rare liver disease.
A recent study published in PubMed explores the phenotype and prognosis of primary sclerosing cholangitis-autoimmune hepatitis variant syndrome. This research provides insights into the clinical characteristics and outcomes of this rare disease.
CSL has entered a deal worth up to $1.6 billion with Alentis Therapeutics to co-develop and promote the anti-claudin-1 therapy lixudebart. This therapy targets kidney and liver conditions, including primary sclerosing cholangitis and systemic autoimmune diseases.
A new clinical diagnostic model, PSC-DM, has been validated for distinguishing between primary and secondary sclerosing cholangitis. This advancement could enhance diagnostic accuracy and improve patient management.