ORPHA:171
Primary sclerosing cholangitis
Also known as: PSC
Publications
25,146
98th percentile
Trials
96
Interventional, condition-specific
Researchers
1,523
Distinct authors in sample
Gene link
—
Readiness
5/6
Stages with a signal
Clinical definition (Orphanet)
Primary sclerosing cholangitis (PSC) is a rare, slowly liver disease characterized by inflammation and destruction of the intra- and/or extra-hepatic bile ducts that lead to cholestasis, liver fibrosis, liver cirrhosis and ultimately liver failure.
How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0013433
- OMIM:613806
- UMLS:C0566602
- NCIT:C4828
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
5/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
25,146 matched papers (15,689 in last 10 years) Source
- Phenotype characterisedPresent
60 HPO annotations (e.g. Cirrhosis; Ascites; Splenomegaly) Source
- Animal modelPresent
2 genotype models (Mus musculus) Source
- Orphan designationPresent
1 FDA · 15 EMA designations (1 FDA orphan-indication approval) — e.g. simtuzumab Source
- Interventional trialPresent
96 matched on ClinicalTrials.gov (21 recruiting in sample)
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
60
Associated phenotypes · MONDO:0013433
- Cirrhosis
- Ascites
- Splenomegaly
- Spider hemangioma
- Abnormal large intestine physiology
Showing 5 of 60 — open Monarch for the full list.
Animal models (Monarch / Alliance)
2
Model associations linked to this Mondo ID
- Abcb4tm1Bor/Abcb4tm1Bor [background:] CAnNCrl.12P2(FVB)-Abcb4tm1Bor·MGI:5659501·Mus musculus
- Abcb4tm1Bor/Abcb4tm1Bor [background:] involves: 129P2/OlaHsd * BALB/c·MGI:5618431·Mus musculus
Monarch fetch 2026-07-29
Therapies
Designations, candidates, and chemicals
FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.
Orphan designation (FDA · EMA)
16
Designations · 1 with FDA orphan-indication approval
- FDA simtuzumabPrimary sclerosing cholangitis · 2015-01-05 · Not FDA Approved for Orphan Indication
- EMA volixibat potassiumTreatment of primary sclerosing cholangitis · 26/02/2025 · PositiveEMA designation
- EMA leuconostoc citreum, strain G511, liveTreatment of primary sclerosing cholangitis · 21/11/2025 · PositiveEMA designation
- EMA Humanised IgG1 monoclonal antibody against human eotaxin-2;nebokitugTreatment of primary sclerosing cholangitis · 21/08/2020 · PositiveEMA designation
- EMA beta-lapachoneTreatment of primary sclerosing cholangitis · 20/06/2025 · PositiveEMA designation
- EMA recombinant human monoclonal antibody binding to vascular adhesion protein-1Treatment of primary sclerosing cholangitis · 19/03/2015 · PositiveEMA designation
- EMA ElafibranorTreatment of primary sclerosing cholangitis · 18/07/2025 · PositiveEMA designation
- EMA chimeric peptide of human glucagon-like peptide-1, glucagon and gastric inhibitory polypeptide analogues linked to a human immunoglobulin Fc fragmentTreatment of primary sclerosing cholangitis · 10/12/2021 · PositiveEMA designation
Sources: FDA OOPD · EMA orphan designations
Open Targets candidates
No drugs or clinical candidates returned for this Mondo ID on Open Targets.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
25,146
25,146 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
25,146 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).
15,689 in the last 10 years · medium confidence · 98th percentile (publications denominator)
Phrase hits: 25,146 · MeSH hits: 0
Who's working on it?
1,523
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Bergquist A10 papers · 2026
European Reference Network on Hepatological Diseases (ERN RARE-LIVER), Hamburg, Germany.
Papers in Europe PMC - 02Karlsen TH9 papers · 2026
Norwegian PSC Research Center, Department of Transplantation Medicine, Division of Surgery and Specialized Medicine Oslo University Hospital Rikshospitalet, Oslo, Norway.
Papers in Europe PMC - 03Folseraas T6 papers · 2026
Norwegian PSC Research Center, Department of Transplantation Medicine, Division of Surgery and Specialized Medicine Oslo University Hospital Rikshospitalet, Oslo, Norway.
Papers in Europe PMC - 04Carbone M5 papers · 2026
Department of Medicine and Surgery, University of Milano-Bicocca, Milan, Italy; Hepatology and Gastroenterology Unit, ASST Grande Ospedale Metropolitano Niguarda, Milan, Italy.
Papers in Europe PMC - 05Eaton JE5 papers · 2026
Division of Gastroenterology and Hepatology, Mayo Clinic, Rochester, Minnesota.
Papers in Europe PMC - 06LaRusso NF5 papers · 2026
Division of Gastroenterology and Hepatology, Mayo Clinic, Rochester, Minnesota.
Papers in Europe PMC - 07Ponsioen C5 papers · 2026
Department of Gastroenterology & Hepatology, Amsterdam University Medical Center, Amsterdam, The Netherlands.
Papers in Europe PMC - 08Wang Y5 papers · 2026
Liver Research Center, Beijing Friendship Hospital, Capital Medical University; State Key Laboratory of Digestive Health; National Clinical Research Center for Digestive Diseases, Beijing 100050, China.
Papers in Europe PMC - 09de Vries AC4 papers · 2026
Department of Gastroenterology & Hepatology, Erasmus MC, Rotterdam, the Netherlands.
Papers in Europe PMC - 10Fujisawa T4 papers · 2026
Department of Gastroenterology, Graduate School of Medicine, Juntendo University.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
96
interventional trials for this specific condition
96 interventional trials matched this specific condition name; 21 currently recruiting in our sample. 4 trials are registered for sclerosing cholangitis, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 11 September 2026
96 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 98.4th percentile).
medium confidence · 98.4th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
96 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT06197308·RECRUITING·Evaluation of an Oral Microbiota-based Therapeutic as a Treatment Option for PSC
Not reviewed·Conditions: Primary Sclerosing Cholangitis·Matched via name phrase
- NCT06286709·RECRUITING·FAecal Microbiota Transplantation in primaRy sclerosinG chOlangitis
Not reviewed·Conditions: Primary Sclerosing Cholangitis · Inflammatory Bowel Diseases·Matched via name phrase
- NCT07229911·RECRUITING·A Study of TAK-781 in Healthy Volunteers and in Participants With Non-Cirrhotic Primary Sclerosing Cholangitis (PSC)
Not reviewed·Conditions: Healthy Volunteers · Primary Sclerosing Cholangitis·Matched via name phrase
- NCT05295680·RECRUITING·Oral Hymecromone to Treat Adolescents and Adults With Primary Sclerosing Cholangitis.
Not reviewed·Conditions: Primary Sclerosing Cholangitis·Matched via name phrase
- NCT06975150·NOT YET RECRUITING·Efficacy and Safety of HK-660S in the Treatment of Primary Sclerosing Cholangitis
Not reviewed·Conditions: Primary Sclerosing Cholangitis (PSC)·Matched via name phrase
- NCT02137668·RECRUITING·Treating Primary Sclerosing Cholangitis and Biliary Atresia With Vancomycin
Not reviewed·Conditions: Primary Sclerosing Cholangitis · Biliary Atresia·Matched via name phrase
- NCT07678645·NOT YET RECRUITING·The Safety and Efficacy of Upadacitinib in Refractory Autoimmune Related Cholangitis and Atopic Dermatitis With Moderate to Severe Itching
Not reviewed·Conditions: Primary Biliary Cholangitis (PBC) · Primary Sclerosing Cholangitis (PSC) · Atopic Dermatitis (AD)·Matched via name phrase
- NCT05835505·RECRUITING·Detoxification of the Liver In PSC (Dolphin)
Not reviewed·Conditions: Primary Sclerosing Cholangitis·Matched via name phrase
- NCT07607353·RECRUITING·Biodegradable Stents in Primary Sclerosing Cholangitis
Not reviewed·Conditions: Primary Sclerosing Cholangitis (PSC)·Matched via name phrase
- NCT06865924·RECRUITING·Colangioids to Define the Genetic Factors Involved in Atypical Primary Sclerosing Cholangitis
Not reviewed·Conditions: PSC·Matched via name phrase
- NCT07387549·RECRUITING·A Study to Assess How Well and Safely Elafibranor Works in Adult Participants With Primary Sclerosing Cholangitis
Not reviewed·Conditions: Primary Sclerosing Cholangitis·Matched via name phrase
- NCT05912387·RECRUITING·Statin Therapy in Primary Sclerosing Cholangitis (PSC): a Multi-omics Study
Not reviewed·Conditions: Primary Sclerosing Cholangitis · Inflammatory Bowel Diseases·Matched via name phrase
- NCT07646223·NOT YET RECRUITING·Vancomycin Efficacy in Response to Dysbiosis in Atypical Colitis
Not reviewed·Conditions: Ulcerative Colitis (UC) · Primary Sclerosing Cholangitis (PSC) · Pediatric Inflammatory Bowel Diseases·Matched via name phrase
- NCT06699121·RECRUITING·A Study to Assess the Safety and Efficacy of LB-P8 in Patients With PSC
Not reviewed·Conditions: Primary Sclerosing Cholangitis (PSC)·Matched via name phrase
- NCT07341282·NOT YET RECRUITING·Investigation of Vancomycin Efficacy in Patients With Ulcerative Colitis and Primary Sclerosing Cholangitis
Not reviewed·Conditions: Ulcerative Colitis (UC) · Primary Sclerosing Cholangitis (PSC)·Matched via name phrase
Broader category: sclerosing cholangitis
4
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
Observational and natural-history studies
41 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
Recruiting or not-yet-recruiting
- NCT05618145·RECRUITING·National Database on Primary Sclerosing Cholangitis (PSC)
Not reviewed·Conditions: Primary Sclerosing Cholangitis·Matched via name phrase
- NCT06252610·NOT YET RECRUITING·PET/MRI of Primary Sclerosing Cholangitis
Not reviewed·Conditions: PSC·Matched via name phrase
- NCT03175471·RECRUITING·MRI Based Biomarkers in Pediatric Autoimmune Liver Disease
Not reviewed·Conditions: Autoimmune Liver Disease · Primary Sclerosing Cholangitis · Autoimmune Hepatitis·Matched via name phrase
- NCT04753996·RECRUITING·Characterization of Biliary Cell-derived Organoids From Bile of PSC and Non-PSC Patients
Not reviewed·Conditions: Primary Sclerosing Cholangitis · PSC · Cholangiocarcinoma·Matched via name phrase
- NCT05750498·RECRUITING·A-LiNK: Improving Outcomes in Autoimmune Liver Disease
Not reviewed·Conditions: Autoimmune Hepatitis · Primary Sclerosing Cholangitis·Matched via name phrase
- NCT03178630·RECRUITING·MRI Biomarkers in as Predictor of Clinical Endpoints in Pediatric Autoimmune Liver Disease
Not reviewed·Conditions: Autoimmune Liver Disease · Autoimmune Hepatitis · Primary Sclerosing Cholangitis·Matched via name phrase
- NCT06519162·RECRUITING·Liver-gut Axis Study Through Identification of Liver Disease-specific Microbiome
Not reviewed·Conditions: Autoimmune Hepatitis · Primary Sclerosing Cholangitis · Non-Alcoholic Fatty Liver Disease · Liver Abscess·Matched via name phrase
- NCT03146936·RECRUITING·Swiss Primary Sclerosing Cholangitis Cohort Study
Not reviewed·Conditions: Cholangitis, Sclerosing · PSC · Primary Sclerosing Cholangitis (PSC)·Matched via name phrase
- NCT06723275·NOT YET RECRUITING·LEOPARD Prospective Validation Cohort 1
Not reviewed·Conditions: Decompensated Liver Cirrhosis · Primary Biliary Cholangitis · Primary Sclerosing Cholangitis · Hepato-cellular Carcinoma·Matched via name phrase
- NCT06061341·ENROLLING BY INVITATION·TruGraf Liver Gene Expression Serial Test
Not reviewed·Conditions: Autoimmune Liver Disease · Autoimmune Hepatitis · Primary Sclerosing Cholangitis · Primary Biliary Cirrhosis·Matched via name phrase
- NCT06297993·RECRUITING·Global Prospective, Observational Cohort of Adult Patients With Primary Sclerosing Cholangitis (WIND-PSC Study)
Not reviewed·Conditions: PSC·Matched via name phrase
- NCT03445585·RECRUITING·Biobank for Cholestatic Liver Diseases.
Not reviewed·Conditions: Primary Sclerosing Cholangitis · Primary Biliary Cirrhosis · Cholangiocarcinoma · Liver Cancer·Matched via name phrase
- NCT04685200·RECRUITING·Unraveling the Mechanisms Underlying Primary Sclerosing Cholangitis Through a Multidisciplinary, Integrative Research Approach
Not reviewed·Conditions: Primary Sclerosing Cholangitis·Matched via name phrase
- NCT04181138·RECRUITING·Primary Sclerosing Cholangitis in Children
Not reviewed·Conditions: Primary Sclerosing Cholangitis · Liver Diseases · Cholangitis, Sclerosing·Matched via name phrase
- NCT06675604·RECRUITING·LEOPARD Training and Validation Data Collection Study
Not reviewed·Conditions: Decompensated Liver Cirrhosis · Primary Biliary Cholangitis · Primary Sclerosing Cholangitis · Hepato-cellular Carcinoma·Matched via name phrase
Other registries (secondary)
Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.
raw 57 · after dedupe 56 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 56 · dropped 0 · fetched 2026-07-29
Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri
No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).
Uncertain / not reviewed (56)
- ctis·2026-525242-29-00·Authorised·A Phase III, Multicentre, Randomised, Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy and Safety of Elafibranor in Adult Participants with Primary Sclerosing Cholangitis
skipped — LLM skipped (--skip-llm)
- ctis·2023-505469-95-00·Authorised·Fecal microbiota transplantation for primary sclerosing cholangitis - randomized study versus sham transplantation (FMT-SCLER).
skipped — LLM skipped (--skip-llm)
- ctis·2024-514292-18-00·Expired·An Open-label study of patients with primary sclerosing cholangitis (PSC) treated with norucholic acid tablets
skipped — LLM skipped (--skip-llm)
- ctis·2024-515195-12-00·Cancelled·A Mass Balance Study of [14C]-IPN60250 in Healthy Adult Participants
skipped — LLM skipped (--skip-llm)
- ctis·2023-507445-28-00·Cancelled·A study to compare two different aramchol formulations in healthy volunteers.
skipped — LLM skipped (--skip-llm)
- ctis·2023-510200-42-00·Cancelled·Double-blind, randomized, placebo-controlled, phase III study comparing norursodeoxycholic acid capsules with placebo in the treatment of primary sclerosing cholangitis
skipped — LLM skipped (--skip-llm)
- ctis·2024-511658-28-01·Expired·Double blind, multicentric, randomized, placebo-controlled trial, evaluating the efficacy of 24-month of bezafibrate in primary sclerosing cholangitis with persistent cholestasis despite ursodeoxycholic acid therapy (BEZASCLER)
skipped — LLM skipped (--skip-llm)
- ctis·2024-511370-72-00·Expired·A Phase II, Multicenter, Double-Blind, Randomised, Placebo-Controlled Study and Open-Label Long Term Extension to Evaluate the Safety and Efficacy of Elafibranor in Adult Participants with Primary Sclerosing Cholangitis (PSC)
skipped — LLM skipped (--skip-llm)
- ctis·2023-506555-15-00·Authorised, ongoing·First-in-human (FIH), microdosing, non-randomized, clinical trial to investigate binding of positron emission tomography tracer [68Ga]Ga-DOTA-Cys-ATH001 targeting platelet derived growth factor receptor β in healthy subjects as compared to patients with metabolic dysfunction-associated steatohepatitis (MASH) and Primary Sclerosing Cholangitis binding (PSC, liver) and patients with fibrostenotic Crohn’s disease (CD, gastrointestinal tract [GI])
skipped — LLM skipped (--skip-llm)
- ctis·2023-510297-14-00·Authorised, ongoing·Safety and efficacy of low-dose interleukin-2 therapy in chronic inflammatory barrier diseases (IL-2-ID): a single-center, randomized, double-blind and placebo-controlled phase 2 clinical basket trial
skipped — LLM skipped (--skip-llm)
- ctis·2024-511053-22-00·Authorised, ongoing·PiSCATIN - Simvastatin for the treatment of primary sclerosing cholangitis (PSC) - a randomized double-blind, placebo-controlled multicenter study
skipped — LLM skipped (--skip-llm)
- ctis·2023-507425-42-00·Authorised, ongoing·A Prospective, Randomized, Placebo-controlled Clinical Trial of oral vancomycin in adults and young adults (15-17 years old) affected by Primary Sclerosing Cholangitis with or without Inflammatory Bowel Disease
skipped — LLM skipped (--skip-llm)
- ctis·2023-507027-37-00·Cancelled·A study to characterize the pharmacokinetic profile of norucholic acid (NCA) in patients with primary sclerosing cholangitis (PSC)
skipped — LLM skipped (--skip-llm)
- ctis·2023-505155-47-00·Expired·Pyridoxine in primary sclerosing cholangitis
skipped — LLM skipped (--skip-llm)
- ctis·2023-505862-27-00·Cancelled·A clinical trial to learn how an investigational drug (norucholic acid) is absorbed, distributed, broken down, and removed from the body when given to people with kidney problems
skipped — LLM skipped (--skip-llm)
- ctis·2023-505764-11-00·Expired·A Randomized Double-Blind Placebo-Controlled Study to Evaluate Efficacy and Safety of Volixibat in the Treatment of Cholestatic Pruritus in Patients with Primary Sclerosing Cholangitis (VISTAS)
skipped — LLM skipped (--skip-llm)
- ctis·2022-500790-14-00·Cancelled·An Open Label, Phase 2 Study to Evaluate the Effect of A3907 on Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics in Adults with Primary Sclerosing Cholangitis (PSC)
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN10174296·No longer recruiting·Comparing two colonoscopy imaging techniques to detect precancerous changes in patients with inflammatory bowel disease
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN16910438·Recruiting·Exploring the public's opinion on the use of their data in biobanking, linked to routine medical records, and the use of artificial intelligence in care and medical research
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN21589167·Recruiting·A study to evaluate single and multiple doses of TLC-1180 in healthy subjects
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN16819837·Recruiting·The use of CARBALIVE in the treatment of cholestatic liver disease
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN65190051·No longer recruiting·Pharmacokinetic study to the open-label Phase of NUC-5/primary sclerosing cholangitis study
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN12203379·Recruiting·Identifying features contributing to the development and progression of primary sclerosing cholangitis
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN55168173·No longer recruiting·Testing a potential new treatment for patients with severe alcohol-associated hepatitis called SZN-043
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN12358813·Recruiting·Asp-PSC: effect of aspirin on reducing cancer & improving outcomes in primary sclerosing cholangitis
skipped — LLM skipped (--skip-llm)
Where to find support
Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.
Orphanet entry for Primary sclerosing cholangitis — check Associations / patient organisations on that page.
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
("Primary sclerosing cholangitis")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Primary sclerosing cholangitis"
Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 96 interventional · 41 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"sclerosing cholangitis"
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: PSC
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T12:44:23.369Z