PSC Partners Seeking a Cure
Cycle 1
Patient-Partnered Collaboration
Primary Sclerosing Cholangitis (PSC) is a rare liver disease that damages the bile ducts inside and outside the liver. With PSC, bile ducts become inflamed, and the inflammation leads to scarring and narrowing of the affected ducts. Eventually, blockages may occur. As the scarring blocks more and more ducts, bile becomes trapped in the liver. This damages the liver and can result in fibrosis and cirrhosis of the liver and liver failure. Patients may eventually require a liver transplant.
Last updated 04/30/2025
Clinical
Disease Class
Diseases due to toxic effects
Gastroenterological diseases
Hepatic diseases
Immunological diseases
Transplant-related diseases
Body Systems
Digestive
Organs
Bile ducts
Bones
Brain
Connective tissue / joints
Esophagus
Gallbladder
Intestines
Liver
Pancreas
Spleen
Stomach
Known Genetic Link
Yes, genetic factors contribute to the risk or severity of the condition
causative_genes
None specified / unknown
contributory_genes
None specified / unknown
Type of Inheritance
Not specified / unknown
Newborn Screening
No
Disease Mechanism(s)
Unknown
Age of Onset
Adolescence (12-17)
Adulthood (age 18-64)
Early childhood (age 1+-5)
Elderly (age 65+)
Infancy (age 0-1)
Middle childhood (6-11)
Average Age at Diagnosis
Adulthood (age 18-64)
Life Expectancy
Adolescence (12-17)
Adulthood (age 18-64)
Elderly (age 65+)
Affected Sex(es)
Female
Intersex
Male
National Prevalence
11-50
Global Prevalence
11-50
National Incidence
Less than 10
Global Incidence
Less than 10
Populations and/or ancestry with higher prevalence
Scandinavian countries, Northern Europe, Minnesota Estimates of PSC incidence and prevalence vary, with most studies conducted in North America and Western Europe; the latter showing a steady increase in disease occurrence over time. The highest reported incidence of PSC was reported in Northern Europe (Finland, 1.58 and Norway, 1.3 per-100,000 population, respectively) and North America (Minnesota, 1.47); with the lowest being observed across the Mediterranean Basin (Italy, 0.1). Prevalence ranged from 31.7 in Finland and 23.99 in Minnesota, to 1.33 in Singapore and 0.0 in Alaska. Of studies reporting temporal occurrence, an increase in disease incidence was observed across North America and Northern Europe (4 studies), alongside an increase in prevalence over time (4 studies). The incidence and risks for clinical outcomes were presented by 9 of the included studies. Median transplant-free survival ranged from 9.7 (United States) to 20.6 years (Netherlands), with standardized mortality ratios of 2.5 and 4.2 compared with the control population.
Symptoms / Phenotypes
anxiety
ascites
cholangitis
cognitive impairment / confusion / brain fog
depression
fatigue
inflammatory bowel disease (IBD)
jaundice
liver disease
lupus / systemic lupus erythematosus
pain, abdominal
pruritus / itching
sleep disorders
vomiting / nausea
weight loss
Biomarkers
Diagnostic
· MRCP/ERCP, liver biopsy
Monitoring
· MELD score, liver enzymes, INR, bilirubin
Other
Prognostic
· experimental composite serum biomarkers; Enhanced Liver Fibrosis (ELF) score to predict moderate fibrosis and cirrhosis;
Existing Therapies
Off-Label Drug Use
Organizational & Research
Cell Lines
None
Cell Lines, Institution
None
Cell Lines, share
N/A
Disease Model
Mouse
Disease Model, Involvement
Funded
Disease Model, share
Unsure
Clinical Trial Role
Data analysis
Data sharing
Focus group
Funding
Meeting with regulators
Other consulting
Outcome measures, development
Recruitment and outreach, patients
Recruitment and outreach, trial sites/physicians
Results dissemination, publication
Study material design, review (not protocol)
Study protocol design, review
Biobank, Institution
None
Center of Excellence, Institution
None
Registry
Yes, we have a registry that we created
Data Collected, Registry
Clinical data
Longitudinal natural history data
Medication usage
Other
Patient contact info
Patient-reported data
Data Entered by, Registry
Patients
Platform, Registry
Matrix
Natural History Study
Yes, we have a natural history study that we created
Data Collected, Natural History Study
Clinical endpoints (outcomes)
Electronic health records/electronic medical records
Imaging data
Medication usage
Patient-reported outcomes
Prospective data
Platform, Natural History Study
ArborMetrix
FDA Patient Listening Session
No
FDA Patient-Focused Drug Development (PFDD) Program
Yes
ICD Codes
Yes, we have an ICD-10 code specific to our exact disease
Yes, we have an ICD-11 code specific to our exact disease
Diagnostic Guidelines
Yes, we have guidance available on our website
Science Advisory Board Policies
Yes, willing to share SAB policies
Research Network Policies
Has CRN and willing to share policies
Research Roadmap
Yes we have a Research Roadmap, and will share policies
International Chapters
North America
International Partners
North America