PSC Partners Seeking a Cure

Cycle 1

Patient-Partnered Collaboration

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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 04/30/2026

Clinical

Disease Class

Hepatic 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

Disease Mechanism(s)

Autoimmune Disease

Autoinflammatory disorder

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

· alkaline phosphatase used alone as a biomarker has failed; combination of imaging and blood tests, composite serum biomarkers in investigation

Prognostic

· experimental composite serum biomarkers; Enhanced Liver Fibrosis (ELF) score to predict moderate fibrosis and cirrhosis;

Existing Therapies

Off-Label Drug Use

Therapies in Development

Dietary & metabolic therapies (medical food, dietary restriction, supplements, etc.)

Immunotherapy

Small molecule therapy (novel small molecule drugs)

Therapeutic Development Stages

Awaiting final regulatory decision

In clinical trials (Phase I, II, III, or IV)

In preclinical development

In research/exploratory phase

Therapeutic Development Role

Access to registry or natural history study

Focus group participation or coordination

Meetings with regulators (e.g., FDA listening sessions, PFDD meetings)

Outcome measures development

Recruitment and outreach to patients

Recruitment and outreach to trial sites / physicians

Results dissemination (including publications)

Study material design and/or review (not protocol) — includes patient-facing materials such as informed consent

Study protocol design and/or review (includes selection of outcome measures)

Organizational & Research

Cell Lines

None

Cell Lines, Institution

None

Cell Lines, share

N/A

Disease Model

Mouse

Disease Model, Institution

Mayo Clinic

Disease Model, Involvement

Consulted

Funded

Disease Model, share

Unsure

Organizational Challenges

Funding and current state of regulatory agencies.

Clinical Trial Role

Data sharing

Focus group

Meeting with regulators

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

Clinical Trial Types

Observational

Phase 1

Phase 2

Phase 3

Biobank, Institution

None

Center of Excellence, Institution

Brigham & Women's Hospital

Center of Excellence, Involvement

Consulted

Registry

Yes, we have a registry that we created

Data Collected, Registry

Clinical data

Electronic health records/electronic medical records

Imaging data

Longitudinal natural history data

Medication usage

Patient contact info

Patient-reported data

Data Entered by, Registry

Other

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

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

Clinical/Treatment Guidelines

Yes, we have guidance available on our website

Yes, we have accredited guidelines

Science Advisory Board Policies

Yes, willing to share SAB policies

Research Network Policies

Has CRN and willing to share policies

Patient Priority Survey

Yes

Patient Priority Survey, share

Yes, will share

Research Roadmap

Yes we have a Research Roadmap, and will share policies

North America

Europe

North America