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Atlas / Disease / Primary sclerosing cholangitis

Primary sclerosing cholangitis

disease
On this page

Also known as cholangitis, primary sclerosingPSC

Summary

Primary sclerosing cholangitis (MONDO:0013433) is a disease and 127 clinical trials. Top therapeutic interventions include vancomycin, ursodiol, and elafibranor. A subtype of sclerosing cholangitis — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

  • Prevalence: 1-9 / 100 000 (Worldwide) [Orphanet-validated]
  • Phenotypes (HPO): 55
  • Clinical trials: 127

Clinical features

Epidemiology

Prevalence records

18 prevalence record(s), Orphanet:

TypeClassValueGeographyValidation
Annual incidence1-9 / 1 000 0000.65WorldwideValidated
Point prevalence1-9 / 100 0008.1WorldwideValidated
Annual incidence1-9 / 1 000 0000.77EuropeValidated
Point prevalence1-9 / 100 0007.84EuropeValidated
Annual incidence1-9 / 100 0001.3NorwayValidated
Annual incidence1-9 / 100 0001.22SwedenValidated
Annual incidence1-9 / 1 000 0000.5NetherlandsValidated
Annual incidence1-9 / 1 000 0000.9CanadaValidated
Annual incidence<1 / 1 000 0000.07SpainValidated
Point prevalence1-9 / 100 0008.5NorwayValidated
Point prevalence1-5 / 10 00016.2SwedenValidated
Point prevalence1-9 / 100 0006NetherlandsValidated
Point prevalence1-9 / 1 000 0000.22SpainValidated
Point prevalence1-9 / 100 0001.3SingaporeValidated
Annual incidence1-9 / 1 000 0000.77United StatesNot yet validated
Annual incidence1-9 / 1 000 0000.66United KingdomNot yet validated
Point prevalence1-9 / 100 0008.81United StatesNot yet validated
Point prevalence1-9 / 100 0008.28United KingdomNot yet validated

Signs & symptoms

Clinical features (HPO)

55 HPO clinical features (Orphanet curated; top 50 by frequency):

HPO IDTermFrequency
HP:0001396CholestasisVery frequent (80-99%)
HP:0002960AutoimmunityVery frequent (80-99%)
HP:0012440Abnormal biliary tract morphologyVery frequent (80-99%)
HP:0001394CirrhosisFrequent (30-79%)
HP:0001395Hepatic fibrosisFrequent (30-79%)
HP:0001409Portal hypertensionFrequent (30-79%)
HP:0001433HepatosplenomegalyFrequent (30-79%)
HP:0001541AscitesFrequent (30-79%)
HP:0001744SplenomegalyFrequent (30-79%)
HP:0001824Weight lossFrequent (30-79%)
HP:0001945FeverFrequent (30-79%)
HP:0002240HepatomegalyFrequent (30-79%)
HP:0002910Elevated circulating hepatic transaminase concentrationFrequent (30-79%)
HP:0010638Elevated alkaline phosphatase of hepatic originFrequent (30-79%)
HP:0012522Spider hemangiomaFrequent (30-79%)
HP:0012700Abnormal large intestine physiologyFrequent (30-79%)
HP:0030168Dilated superficial abdominal veinsFrequent (30-79%)
HP:0100279Ulcerative colitisFrequent (30-79%)
HP:0100869Palmar telangiectasiaFrequent (30-79%)
HP:0000083Renal insufficiencyOccasional (5-29%)
HP:0000716DepressionOccasional (5-29%)
HP:0000938OsteopeniaOccasional (5-29%)
HP:0000939OsteoporosisOccasional (5-29%)
HP:0000952JaundiceOccasional (5-29%)
HP:0000989PruritusOccasional (5-29%)
HP:0001081CholelithiasisOccasional (5-29%)
HP:0001402Hepatocellular carcinomaOccasional (5-29%)
HP:0001635Congestive heart failureOccasional (5-29%)
HP:0001733PancreatitisOccasional (5-29%)
HP:0002027Abdominal painOccasional (5-29%)
HP:0002202Pleural effusionOccasional (5-29%)
HP:0002608Celiac diseaseOccasional (5-29%)
HP:0003073HypoalbuminemiaOccasional (5-29%)
HP:0003459Polyclonal elevation of IgMOccasional (5-29%)
HP:0003700Generalized amyotrophyOccasional (5-29%)
HP:0004905Low levels of vitamin AOccasional (5-29%)
HP:0008151Prolonged prothrombin timeOccasional (5-29%)
HP:0011892Low levels of vitamin KOccasional (5-29%)
HP:0012115HepatitisOccasional (5-29%)
HP:0012378FatigueOccasional (5-29%)
HP:0030153CholangiocarcinomaOccasional (5-29%)
HP:0040275Adenocarcinoma of the large intestineOccasional (5-29%)
HP:0100512Low levels of vitamin DOccasional (5-29%)
HP:0100513Low levels of vitamin EOccasional (5-29%)
HP:0100626Chronic hepatic failureOccasional (5-29%)
HP:0100646ThyroiditisOccasional (5-29%)
HP:0100651Type I diabetes mellitusOccasional (5-29%)
HP:0001879Abnormality of eosinophilsExcluded (0%)
HP:0005429Recurrent systemic pyogenic infectionsExcluded (0%)
HP:0011034AmyloidosisExcluded (0%)

Identifiers

Disease identifiers

FieldValue
Canonical nameprimary sclerosing cholangitis
Mondo IDMONDO:0013433
OMIM613806
Orphanet171
DOIDDOID:0060643
ICD-10-CMK83.01
ICD-11857962451
NCITC4828
SNOMED CT197441003
UMLSC0566602
MedGen107565
GARD0001280
MedDRA10036732
NORD1613
Is cancer (heuristic)no

Also known as: cholangitis, primary sclerosing · PSC

Data availability: 6 cell lines.

Disease family

This is a subtype of sclerosing cholangitis. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › digestive system disorder › hepatobiliary disorder › biliary tract disorder › bile duct disorder › non-neoplastic bile duct disorder › cholangitis › sclerosing cholangitis › primary sclerosing cholangitis

Related subtypes (4): neonatal ichthyosis-sclerosing cholangitis syndrome, IgG4-related sclerosing cholangitis, secondary sclerosing cholangitis, isolated neonatal sclerosing cholangitis

Subtypes (1): nephropathy, progressive tubulointerstitial, with cholestatic liver disease

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 127.

Phase distribution (across all retrieved trials)

PhaseTrials
Not specified53
PHASE234
PHASE118
PHASE311
EARLY_PHASE14
PHASE2/PHASE33
PHASE1/PHASE23
PHASE41

Top trials by phase / activity

NCTPhaseStatusTitle
NCT02605213PHASE4UNKNOWNEffect and Safety of Oral Vancomycin in Primary Sclerosing Cholangitis Patients
NCT03872921PHASE3ACTIVE_NOT_RECRUITINGnorUrsodeoxycholic Acid vs Placebo in PSC
NCT04133792PHASE3ACTIVE_NOT_RECRUITINGEffect of Simvastatin on the Prognosis of Primary Primary Sclerosing Cholangitis (PSC)
NCT06886360PHASE3NOT_YET_RECRUITINGStudy with Norucholic Acid Tablets in Patients with Primary Sclerosing Cholangitis (PSC)
NCT07387549PHASE3RECRUITINGA Study to Assess How Well and Safely Elafibranor Works in Adult Participants With Primary Sclerosing Cholangitis
NCT00059202PHASE2/PHASE3TERMINATEDTrial of High-dose Urso in Primary Sclerosing Cholangitis
NCT00161148PHASE3UNKNOWNProbiotics in Patients With Primary Sclerosing Cholangitis
NCT01398917PHASE3UNKNOWNShort-term Stenting Versus Balloon Dilatation for Dominant Strictures in Primary Sclerosing Cholangitis
NCT01802073PHASE3COMPLETEDPrimary Sclerosing Cholangitis With Oral Vancomycin by the Study of Its Antimicrobial and Immunomodulating Effects
NCT02701166PHASE3UNKNOWNThe Effect of Bezafibrate on Cholestatic Itch
NCT03035058PHASE3WITHDRAWNEfficacy and Safety of Vedolizumab Intravenous (IV) in the Treatment of Primary Sclerosing Cholangitis in Subjects With Underlying Inflammatory Bowel Disease
NCT03710122PHASE2/PHASE3TERMINATEDVancomycin for Primary Sclerosing Cholangitis
NCT03890120PHASE3TERMINATEDStudy of Cilofexor in Adults With Primary Sclerosing Cholangitis
NCT04309773PHASE3UNKNOWNEfficacy of 24 Month of Bezafibrate in Primary Sclerosing Cholangitis With Persistent Cholestasis Despite Ursodeoxycholic Acid Therapy
NCT06654726PHASE2/PHASE3WITHDRAWNA Multi-center Evaluation of Aldafermin in a Randomized, Double-blind, Placebo-controlled Study in Subjects With Primary Sclerosing Cholangitis.
NCT04595825PHASE2ACTIVE_NOT_RECRUITINGCM-101 in PSC Patients -The SPRING Study
NCT04663308PHASE2ACTIVE_NOT_RECRUITINGA Study to Evaluate Efficacy and Safety of an Investigational Drug Named Volixibat in Patients With Itching Caused by Primary Sclerosing Cholangitis (PSC)
NCT05295680PHASE2RECRUITINGOral Hymecromone to Treat Adolescents and Adults With Primary Sclerosing Cholangitis.
NCT05627362PHASE2ACTIVE_NOT_RECRUITINGA Study to Assess Safety and Effectiveness of Elafibranor in Adult Participants With Primary Sclerosing Cholangitis.
NCT05835505PHASE2RECRUITINGDetoxification of the Liver In PSC (Dolphin)
NCT05876182PHASE2RECRUITINGVancomycin in Primary Sclerosing Cholangitis in Italy
NCT05896137PHASE2ACTIVE_NOT_RECRUITINGCS0159 in Chinese Patients With PSC (Primary Sclerosing Cholangitis)
NCT06286709PHASE2RECRUITINGFAecal Microbiota Transplantation in primaRy sclerosinG chOlangitis
NCT06699121PHASE2RECRUITINGA Study to Assess the Safety and Efficacy of LB-P8 in Patients With PSC
NCT06905054PHASE2RECRUITINGPharmacologic Approaches to Preventing Primary Sclerosing Cholangitis Recurrence After Liver Transplantation
NCT06975150PHASE2NOT_YET_RECRUITINGEfficacy and Safety of HK-660S in the Treatment of Primary Sclerosing Cholangitis
NCT07341282PHASE2NOT_YET_RECRUITINGInvestigation of Vancomycin Efficacy in Patients With Ulcerative Colitis and Primary Sclerosing Cholangitis
NCT07477782PHASE2NOT_YET_RECRUITINGFecal Microbiota Transplantation for Primary Sclerosing Cholangitis - Randomized Study Versus Sham Transplantation
NCT00588458PHASE2WITHDRAWNThe Value of CT Cholangiography in Primary Sclerosing Cholangitis
NCT00953615PHASE2TERMINATEDThalidomide for the Treatment of Primary Sclerosing Cholangitis (PSC)
NCT01142323PHASE1/PHASE2TERMINATEDPilot Study of Fenofibrate for PSC
NCT01672853PHASE2COMPLETEDSimtuzumab (GS-6624) in the Prevention of Progression of Liver Fibrosis in Adults With Primary Sclerosing Cholangitis (PSC)
NCT01688024PHASE2UNKNOWNMitomycin C Therapy for Patients With Primary Sclerosing Cholangitis
NCT01755507PHASE2COMPLETEDNorursodeoxycholic Acid in the Treatment of Primary Sclerosing Cholangitis
NCT02061540PHASE2COMPLETEDOpen Label Study to Evaluate Safety and Efficacy of LUM001 in Patients With Primary Sclerosing Cholangitis
NCT02177136PHASE2COMPLETEDObeticholic Acid (OCA) in Primary Sclerosing Cholangitis (PSC)
NCT02239211PHASE2COMPLETEDA Trial of BTT1023 in Patients With Primary Sclerosing Cholangitis
NCT02653625PHASE2COMPLETEDPERSEUS: Preliminary Efficacy and Safety of Cenicriviroc in Adult Participants With Primary Sclerosing Cholangitis
NCT02704364PHASE2COMPLETEDA Study of NGM282 in Patients With Primary Sclerosing Cholangitis
NCT02943460PHASE2COMPLETEDStudy to Evaluate the Safety, Tolerability, and Efficacy of Cilofexor in Adults With Primary Sclerosing Cholangitis Without Cirrhosis

Drugs tested across these trials (top 30)

MoleculeMax phaseTrials referencing
VANCOMYCIN412
URSODIOL44
ELAFIBRANOR42
FENOFIBRATE42
MARALIXIBAT CHLORIDE41
SELADELPAR41
SULFASALAZINE41
VEDOLIZUMAB41
CILOFEXOR34
BEZAFIBRATE32
NORUCHOLIC ACID32
ADEMETIONINE31
CENICRIVIROC31
CURCUMIN31
VIDOFLUDIMUS31
BERBERINE URSODEOXYCHOLATE23
ALDAFERMIN22
ARAMCHOL MEGLUMINE21
BEXOTEGRAST21
HYMECROMONE21
LARSUCOSTEROL21
RITIVIXIBAT21
SIMTUZUMAB21
SIPLIZUMAB21
URSOLIC ACID21
VOLIXIBAT21
CHOLYLSARCOSINE C-1111
CM-10111
CHEMBL540958302
CHEMBL373976902

About this page

Generated deterministically by Sugi Atlas from primary biomedical databases via BioBTree. Every record on this page traces to a primary source.

Generated
Atlas version
v1.1.4
BioBTree
v2.0.2

Sources 25

This page pulls from 25 datasets indexed by BioBTree:

chembl_moleculecivic_evidenceclinical_trialsclinvardoidefogardgenccgwasgwas_studyhgncicd10cmicd11meddramedgenmeshmimmondomondochildmondoparentncitnordorphanetsctidumls