RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:172

Progressive familial intrahepatic cholestasis

low confidenceDisorder

Also known as: PFIC

Publications

9,432

Trials

13

Interventional, condition-specific

Researchers

1,122

Distinct authors in sample

Gene link

ABCB11, ATP8B1, PLEC

Strong

Readiness

6/6

Stages with a signal

Clinical definition (Orphanet)

familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

cholestasis, progressive familial intrahepatic

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.”

6/6 stages with a signal

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

  1. Gene identifiedPresent

    Strong — ABCB11, ATP8B1, PLEC

  2. LiteraturePresent

    9,432 matched papers (6,173 in last 10 years) Source

  3. Phenotype characterisedPresent

    223 HPO annotations (e.g. Short stature; Elevated circulating alkaline phosphatase concentration; Conjugated hyperbilirubinemia) Source

  4. Animal modelPresent

    2 genotype models (Danio rerio, Mus musculus) Source

  5. Orphan designationPresent

    1 FDA · 3 EMA designations (1 FDA orphan-indication approval) — e.g. maralixibat Source

  6. Interventional trialPresent

    13 matched on ClinicalTrials.gov (2 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?

Yes — we know a specific gene responsible (ABCB11, ATP8B1, PLEC).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

223

Associated phenotypes · MONDO:0015762

  • Short stature
  • Elevated circulating alkaline phosphatase concentration
  • Conjugated hyperbilirubinemia
  • Hepatocellular carcinoma
  • Cirrhosis

Showing 5 of 223 — 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)

4

Designations · 1 with FDA orphan-indication approval

  • FDA maralixibatProgressive familial intrahepatic cholestasis · 2013-09-04 · Not FDA Approved for Orphan Indication
  • EMA Bylvay (Bylvay)Treatment of progressive familial intrahepatic cholestasis · 17/07/2012 · PositiveEMA designation
  • EMA (4R,5R)-1-[[4-[[4-[3,3-dibutyl-7-(dimethylamino)-2,3,4,5- tetrahydro-4-hydroxy-1,1-dioxido-1-benzothiepin-5-yl]phenoxy]methyl]phenyl]methyl]-4-aza-1-azoniabicyclo[2.2.2]octane chloride (maralixibat chloride) (Livmarli)Treatment of progressive familial intrahepatic cholestasis · 16/01/2014 · PositiveEMA designation
  • EMA adeno-associated viral vector serotype 3B encoding human multidrug resistance protein 3ATreatment of progressive familial intrahepatic cholestasis · 22/04/2020 · WithdrawnEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

3

Drugs / clinical candidates · MONDO_0015762

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

9,432

9,432 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.

9,432 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).

6,173 in the last 10 years · low confidence

Phrase hits: 2,892 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,122

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
    Keitel V5 papers · 2026

    Department of Gastroenterology, Hepatology and Infectious Diseases, Otto von Guericke University, Magdeburg, Germany.

    Papers in Europe PMC
  2. 02
    Williamson C5 papers · 2026

    , ,

    Papers in Europe PMC
  3. 03
    Kuipers F4 papers · 2026

    Department of Pediatrics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.

    Papers in Europe PMC
  4. 04
    Verkade HJ4 papers · 2026

    Division of Pediatric Gastroenterology and Hepatology, Department of Pediatrics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.

    Papers in Europe PMC
  5. 05
    Cantz T3 papers · 2026

    Department of Gastroenterology, Hepatology, Infectious Diseases and Endocrinology, Hannover Medical School, Hannover, Germany; Research Center for Translational Regenerative Medicine, Hannover Medical School, Hannover, Germany.

    Papers in Europe PMC
  6. 06
    Dixon PH3 papers · 2025

    Imperial College London, London, UK.

    Papers in Europe PMC
  7. 07
    Dröge C3 papers · 2025

    Department of Gastroenterology, Hepatology, and Infectious Diseases, University Hospital, Medical Faculty, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.

    Papers in Europe PMC
  8. 08
    Ieda S3 papers · 2026

    Division of Gastroenterology, Department of Internal Medicine, Tokai University School of Medicine, Isehara, Kanagawa, Japan.

    Papers in Europe PMC
  9. 09
    Jiang Y3 papers · 2026

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

    Papers in Europe PMC
  10. 10
    Joshi D3 papers · 2026

    Institute of Liver StudiesKing's College HospitalLondonUK.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

13

interventional trials for this specific condition

13 interventional trials matched this specific condition name; 2 currently recruiting in our sample.

Data as of 11 September 2026 · last trial check 28 July 2026

13 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 93.5th percentile).

low confidence · 93.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: familial intrahepatic cholestasis

0

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Parent-category matching found a broader label but no interventional trials under it. How we count trials.

Observational and natural-history studies

14 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

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 16 · after dedupe 16 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 16 · 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 (16)

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 Progressive familial intrahepatic cholestasis — 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.

("Progressive familial intrahepatic cholestasis" OR "cholestasis, progressive familial intrahepatic") OR ("ABCB11" OR "ABCB11 syndrome" OR "ABCB11-related" OR "ATP8B1" OR "ATP8B1 syndrome" OR "ATP8B1-related" OR "PLEC" OR "PLEC syndrome" OR "PLEC-related")

Run this search on Europe PMC

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

"Progressive familial intrahepatic cholestasis" OR "cholestasis, progressive familial intrahepatic"

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: 13 interventional · 14 observational · 1 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"familial intrahepatic cholestasis"

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: PFIC

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
  • Publication count (9432) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T12:44:34.320Z