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ORPHA:171

Primary sclerosing cholangitis

medium confidenceDisorder

Also known as: PSC

Publications

25,146

99th percentile

Trials

96

Interventional, condition-specific

Researchers

1,424

Distinct authors in sample

Gene link

—

Readiness

2/6

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.”

2/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    25,146 matched papers (15,689 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. 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)

Not enriched in this build — Monarch phenotype joins were not run for this record.

Animal models (Monarch / Alliance)

Not enriched in this build.

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=5449) is 41.

25,146 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).

15,689 in the last 10 years · medium confidence · 99th percentile (publications denominator)

Phrase hits: 25,146 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,424

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.

  1. 01
    Bergquist A8 papers · 2026

    Unit of Gastroenterology and Nutrition (GUT), Department of Medicine Huddinge (MedH), Karolinska Institutet, Stockholm, Sweden.

    Papers in Europe PMC
  2. 02
    Li J6 papers · 2026

    The Fourth Clinical Medical College, Guangzhou University of Chinese Medicine, Shenzhen 518033, China; (R.Z.);

    Papers in Europe PMC
  3. 03
    Eaton JE5 papers · 2026

    Division of Gastroenterology and Hepatology, Mayo Clinic, Rochester, Minnesota.

    Papers in Europe PMC
  4. 04
    Bonder A4 papers · 2026

    Division of Gastroenterology, Hepatology, and Nutrition, Beth Israel Deaconess Medical Center, Harvard Medical School, Suite 8E, Gastroenterology, 110 Francis Street, Boston, MA 02215, USA. Electronic address: abonder@bidmc.harvard.edu.

    Papers in Europe PMC
  5. 05
    Hashash JG4 papers · 2026

    Division of Gastroenterology and Hepatology, Mayo Clinic, Jacksonville, Florida.

    Papers in Europe PMC
  6. 06
    Karlsen TH4 papers · 2026

    Norwegian PSC Research Center, Department of Transplantation Medicine, Oslo University Hospital, Oslo, Norway; Research Institute of Internal Medicine, Division of Surgery and Specialized Medicine, Oslo University Hospital, Oslo, Norway; Institute of Clinical Medicine, University of Oslo, Oslo, Norway; Section of Gastroenterology, Department of Transplantation Medicine, Oslo University Hospital, Oslo, Norway.

    Papers in Europe PMC
  7. 07
    Li W4 papers · 2026

    Clinical Translational Research Center for Surgical Infection and Immunity of Nanjing Medical University, Nanjing BenQ Medical Center, The Affiliated BenQ Hospital of Nanjing Medical University.

    Papers in Europe PMC
  8. 08
    Ponsioen C4 papers · 2026

    Department of Gastroenterology & Hepatology, Amsterdam UMC, University of Amsterdam, The Netherlands.

    Papers in Europe PMC
  9. 09
    Trivedi PJ4 papers · 2026

    National Institute of Health and Care Research (NIHR) Birmingham Biomedical Research Centre (BRC), University of Birmingham, Birmingham, UK.

    Papers in Europe PMC
  10. 10
    Wang X4 papers · 2026

    Department of Hepatobiliary Surgery, Qinghai Red Cross Hospital, Xining, Qinghai, China.

    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 27 July 2026

96 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; 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.

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

Open the complete matched search on ClinicalTrials.gov

Where to find support

We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:

India — NPRD

Last verified 2026-07-26

This 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"

Run this search on Europe PMC

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