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ORPHA:52

Alagille syndrome

low confidenceDisorder

Also known as: Alagille-Watson syndrome · Arteriohepatic dysplasia · Syndromic bile duct paucity

Publications

21,345

Trials

15

Interventional, condition-specific

Researchers

1,278

Distinct authors in sample

Gene link

MMP15, NOTCH2

Definitive

Readiness

6/6

Stages with a signal

Clinical definition (Orphanet)

A rare developmental disease characterized by the variable association of chronic cholestasis due to paucity of intrahepatic bile ducts, heart disease including pulmonary artery stenosis, butterfly-shaped vertebrae, posterior embryotoxon, characteristic facies, frequent growth retardation, glomerular/tubular kidney disease, and diffuse vascular arterial anomalies.

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)

syndromic bile duct paucity

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

    Definitive — MMP15, NOTCH2

  2. LiteraturePresent

    21,345 matched papers (14,462 in last 10 years) Source

  3. Phenotype characterisedPresent

    121 HPO annotations (e.g. Posterior embryotoxon; Tetralogy of Fallot; Pointed chin) Source

  4. Animal modelPresent

    6 genotype models (Mus musculus) Source

  5. Orphan designationPresent

    1 FDA · 2 EMA designations (1 FDA orphan-indication approval) — e.g. maralixibat Source

  6. Interventional trialPresent

    15 matched on ClinicalTrials.gov (1 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 (MMP15, NOTCH2).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

121

Associated phenotypes · MONDO:0007318

  • Posterior embryotoxon
  • Tetralogy of Fallot
  • Pointed chin
  • Atrial septal defect
  • Pulmonic stenosis

Showing 5 of 121 — open Monarch for the full list.

Animal models (Monarch / Alliance)

6

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)

3

Designations · 1 with FDA orphan-indication approval

  • FDA maralixibatAlagille Syndrome · 2013-09-04 · Not FDA Approved for Orphan Indication
  • 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 Alagille syndrome · 18/12/2013 · PositiveEMA designation
  • EMA Bylvay (Bylvay)Treatment of Alagille syndrome · 09/08/2012 · WithdrawnEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

3

Drugs / clinical candidates · MONDO_0007318

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

21,345

21,345 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.

21,345 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).

14,462 in the last 10 years · low confidence

Phrase hits: 4,023 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,278

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
    Gilbert MA10 papers · 2026

    Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Division of Pediatric Gastroenterology, Hepatology, and Nutrition, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pathology and Laboratory Medicine, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA. Electronic address: gilbertma@chop.edu.

    Papers in Europe PMC
  2. 02
    Loomes KM9 papers · 2026

    Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA.

    Papers in Europe PMC
  3. 03
    Spinner NB8 papers · 2026

    Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pathology and Laboratory Medicine, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.

    Papers in Europe PMC
  4. 04
    Zheng W6 papers · 2026

    National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA. Electronic address: wzheng@mail.nih.gov.

    Papers in Europe PMC
  5. 05
    Chen C5 papers · 2026

    Department of Orthopedic Surgery, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200233, China.

    Papers in Europe PMC
  6. 06
    Chen Y5 papers · 2026

    College of Veterinary Medicine, Yunnan Agricultural University, Kunming, Yunnan, 650201, People's Republic of China.

    Papers in Europe PMC
  7. 07
    Jiang Y5 papers · 2026

    Department of Cardiology The First Hospital of China Medical University Shenyang China.

    Papers in Europe PMC
  8. 08
    Karnsakul W5 papers · 2026

    Division of Pediatric Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

    Papers in Europe PMC
  9. 09
    Liu C5 papers · 2025

    Transgenic Core, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD, USA.

    Papers in Europe PMC
  10. 10
    Andersson ER4 papers · 2026

    Department of Cell and Molecular Biology, Karolinska Institutet, Stockholm 17177, Sweden.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

15

interventional trials for this specific condition

15 interventional trials matched this specific condition name; 1 currently recruiting in our sample.

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

15 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 94th percentile).

low confidence · 94th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

11 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 2 · after dedupe 2 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 2 · 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 (2)

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 Alagille syndrome — 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.

("Alagille syndrome" OR "Alagille-Watson syndrome" OR "Arteriohepatic dysplasia" OR "Syndromic bile duct paucity") OR ("MMP15" OR "MMP15 syndrome" OR "MMP15-related" OR "NOTCH2" OR "NOTCH2 syndrome" OR "NOTCH2-related")

Run this search on Europe PMC

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

"Alagille syndrome" OR "Alagille-Watson syndrome" OR "Arteriohepatic dysplasia" OR "Syndromic bile duct paucity"

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: 15 interventional · 11 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

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (21345) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T12:14:57.007Z