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 May 2024
Clinical
Disease Class
Rare diseases due to toxic effects
Rare gastroenterological diseases
Rare hepatic diseases
Rare immunological diseases
Rare transplant-related diseases
Body Systems
Digestive
Organs
Bile ducts
Bones
Brain
Connective tissue / joints
Esophagus
Gallbladder
Intestines
Liver
Pancreas
Spleen
Stomach
Genes
None specified / unknown
Type of Inheritance
Not specified / unknown
Disease Mechanism(s)
Autoimmune
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)
Incidence
Less than 10
Prevalence
10000+
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
Alternative treatments (eg. nutritional supplements)
· Curcumin (though poor evidence)
Drugs used off-label
· Ursodeoxycholic acid, oral vancomycin, fibrates, rifampin
Other
· lactulose for hepatic encephalopathy
Organizational & Research
Cell Lines
iPSCs
Organoids
Cell Lines, location
Harvard University
Yale University
Cell Lines, share
IDK
Disease Model
Mouse
Organoids
Disease Model, location
Harvard Medical School
Mayo Clinic
University of Pennsylvania (PENN)
Yale University
Disease Model, share
Unknown
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
None
Center of Excellence
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
Electronic health records/electronic medical records
Imaging data
Medication usage
Patient-reported outcomes
Prospective data
Retrospective 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
Clinical/Treatment Guidelines
Yes
Organizational Roles
Executive Director
Patient Engagement Manager/Director
Registry Coordinator
Research/Scientific Director
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
Europe
Middle East
North America
Oceania