RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:186

Primary biliary cholangitis

medium confidenceDisorder

Also known as: Hanot syndrome · PBC · Primary biliary cirrhosis

Publications

30,190

98th percentile

Trials

142

Interventional, condition-specific

Researchers

1,025

Distinct authors in sample

Gene link

—

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A rare autoimmune cholestatic liver disease characterized by autoimmune mediated damage of small intrahepatic bile ducts leading to cholestasis, fibrosis, and potential cirrhosis.

How rare: 1-5 / 10 000 — about one to five people per ten thousand (still uncommon, but less ultra-rare).

Orphanet entry

Cross-references

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

Additional Mondo synonyms (4)

chronic non-suppurative destructive cholangitis · chronic nonsuppurative destructive cholangitis · primary Bilary cirrhosis (PBC) · primary biliary cirrhosis

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.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    30,190 matched papers (15,718 in last 10 years) Source

  3. Phenotype characterisedPresent

    42 HPO annotations (e.g. Pruritus; Hepatic failure; Hepatocellular carcinoma) Source

  4. Animal modelPresent

    2 genotype models (Mus musculus) Source

  5. Orphan designationPresent

    10 FDA · 10 EMA designations (10 FDA orphan-indication approvals) — e.g. (2R,3R,4S)-2-(2-chloro-6-(3-chlorobenzylamino)-9H-purin-9-yl)tetrahydrothiophene-3,4-diol Source

  6. Interventional trialPresent

    142 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)

42

Associated phenotypes · MONDO:0005388

  • Pruritus
  • Hepatic failure
  • Hepatocellular carcinoma
  • Autoimmunity
  • Antinuclear antibody positivity

Showing 5 of 42 — open Monarch for the full list.

Animal models (Monarch / Alliance)

2

Model associations linked to this Mondo ID

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)

25

Designations · 10 with FDA orphan-indication approval

  • FDA (2R,3R,4S)-2-(2-chloro-6-(3-chlorobenzylamino)-9H-purin-9-yl)tetrahydrothiophene-3,4-diolPrimary Biliary Cholangitis · 2021-02-01 · Not FDA Approved for Orphan Indication
  • FDA saroglitazar magnesiumPrimary Biliary Cholangitis · 2021-01-26 · Not FDA Approved for Orphan Indication
  • FDA SetanaxibPrimary Biliary Cholangitis · 2020-10-16 · Not FDA Approved for Orphan Indication
  • FDA bis-choline tetrathiomolybdatePrimary Biliary Cholangitis · 2020-04-06 · Not FDA Approved for Orphan Indication
  • FDA linerixibatPrimary Biliary Cholangitis · 2019-09-18 · Not FDA Approved for Orphan Indication
  • FDA elafibranorPrimary Biliary Cholangitis · 2019-07-25 · Not FDA Approved for Orphan Indication
  • FDA budesonidePrimary Biliary Cholangitis · 2019-02-11 · Not FDA Approved for Orphan Indication
  • FDA seladelparPrimary Biliary Cholangitis · 2016-11-07 · Not FDA Approved for Orphan Indication

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

51

Drugs / clinical candidates · MONDO_0005388

CTD chemicals (MyDisease.info)

33 associated chemicals · 384 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • adefovir dipivoxil · therapeutic
  • Bezafibrate · therapeutic
  • Diosmin · therapeutic
  • Fibric Acids · therapeutic
  • Lamivudine · therapeutic
  • Methotrexate · therapeutic
  • Naloxone · therapeutic
  • Penicillamine · therapeutic
  • Rifampin · therapeutic
  • Rosmarinic Acid · therapeutic
  • Sildenafil Citrate · therapeutic
  • Sulindac · therapeutic

Pathways: Arginine biosynthesis; Purine metabolism; Arginine and proline metabolism; Metabolic pathways; Endocrine resistance; Antifolate resistance; Platinum drug resistance; ABC transporters

MyDisease.info · MONDO:0005388

Literature

Is anyone studying this?

30,190

30,190 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.

30,190 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).

15,718 in the last 10 years · medium confidence · 98th percentile (publications denominator)

Phrase hits: 30,190 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,025

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
    Levy C10 papers · 2026

    Schiff Center for Liver Diseases, University of Miami Miller School of Medicine, Miami, Florida, USA.

    Papers in Europe PMC
  2. 02
    Kowdley KV9 papers · 2026

    Liver Institute Northwest, Seattle, WA, USA.

    Papers in Europe PMC
  3. 03
    Bowlus CL8 papers · 2026

    Division of Gastroenterology and Hepatology, University of California Davis School of Medicine, Sacramento, California, USA.

    Papers in Europe PMC
  4. 04
    Hirschfield GM8 papers · 2026

    The Autoimmune and Rare Liver Disease Programme, Toronto General Hospital, Toronto, Ontario, Canada.

    Papers in Europe PMC
  5. 05
    Wang L8 papers · 2026

    Department of Infectious Disease and Liver Disease & Outpatient, Follow-Up Center, Nanjing Key Laboratory of Hepatology, The Second Hospital of Nanjing, Affiliated to Nanjing University of Chinese Medicine, Nanjing, China.

    Papers in Europe PMC
  6. 06
    Han Y7 papers · 2026

    Department of Gastroenterology and Hepatology, Laboratory for Clinical Medicine, Beijing You'an Hospital, Capital Medical University, Beijing, China.

    Papers in Europe PMC
  7. 07
    Tanaka A7 papers · 2026

    Department of Medicine, Teikyo University of Medicine, Tokyo, Japan.

    Papers in Europe PMC
  8. 08
    Wang Y7 papers · 2026

    Liver Research Center, Beijing Friendship Hospital, Capital Medical University, 95 Yong-an Road, Beijing, 100050, China.

    Papers in Europe PMC
  9. 09
    Yang J7 papers · 2026

    Department of Gastroenterology, The Second Affiliated Hospital of Kunming Medical University , Kunming , Yunnan , 650101 ,

    Papers in Europe PMC
  10. 10
    Crittenden DB6 papers · 2026

    Gilead Sciences, Inc., Foster City, California, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

142

interventional trials for this specific condition

142 interventional trials matched this specific condition name; 21 currently recruiting in our sample.

Data as of 11 September 2026

142 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 99th percentile).

medium confidence · 99th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

142 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

44 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

General rare disease registries you may be eligible for

These studies enroll across many rare conditions. They are not counted as evidence that anyone is studying this specific disease.

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 69 · after dedupe 68 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 68 · 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 (68)

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 biliary cholangitis — check Associations / patient organisations on that page.

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 biliary cholangitis" OR "Hanot syndrome" OR "Primary biliary cirrhosis" OR "chronic non-suppurative destructive cholangitis" OR "chronic nonsuppurative destructive cholangitis" OR "primary Bilary cirrhosis (PBC)")

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Primary biliary cholangitis" OR "Hanot syndrome" OR "Primary biliary cirrhosis" OR "chronic non-suppurative destructive cholangitis" OR "chronic nonsuppurative destructive cholangitis" OR "primary Bilary cirrhosis (PBC)"

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: 142 interventional · 44 observational · 1 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: PBC

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 2026-07-26T12:49:33.250Z