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ORPHA:912

Zellweger syndrome

low confidenceDisorder

Also known as: Cerebrohepatorenal syndrome · Severe PBD-ZSD · Severe peroxisome biogenesis disorder-Zellweger spectrum disorder · ZS

Publications

3,263

Trials

4

Interventional, condition-specific

Researchers

1,098

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare peroxisome biogenesis disorder (the most severe variant of Peroxisome biogenesis disorder spectrum) characterized by neuronal migration defects in the brain, craniofacial features, profound , , and liver dysfunction.

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 (3)

ZWS · Zellweger spectrum disorders · cerebrohepatorenal syndrome

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.”

4/6 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

    3,263 matched papers (1,352 in last 10 years) Source

  3. Phenotype characterisedPresent

    779 HPO annotations (e.g. EEG abnormality; Skeletal dysplasia; Micrognathia) Source

  4. Animal modelPresent

    8 genotype models (Danio rerio, Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPresent

    4 matched on ClinicalTrials.gov

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)

779

Associated phenotypes · MONDO:0019609

  • EEG abnormality
  • Skeletal dysplasia
  • Micrognathia
  • Sensorineural hearing impairment
  • Premature birth

Showing 5 of 779 — open Monarch for the full list.

Animal models (Monarch / Alliance)

8

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)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

1

Drugs / clinical candidates · MONDO_0019609

CTD chemicals (MyDisease.info)

1 associated chemical · 18 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Leukotriene B4 · marker/mechanism

Pathways: Primary bile acid biosynthesis; Metabolic pathways; ABC transporters; Peroxisome; Bile acid biosynthesis, cholesterol => cholate/chenodeoxycholate; ABC transporters in lipid homeostasis; Metabolism; Synthesis of bile acids and bile salts

MyDisease.info · MONDO:0019609

Literature

Is anyone studying this?

3,263

3,263 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

3,263 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).

1,352 in the last 10 years · low confidence

Phrase hits: 3,263 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,098

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
    Wanders RJA9 papers · 2025

    Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

    Papers in Europe PMC
  2. 02
    Waterham HR8 papers · 2024

    Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

    Papers in Europe PMC
  3. 03
    Braverman NE7 papers · 2025

    Department of Human Genetics and Pediatrics, McGill University Health Centre, Montreal, Canada.

    Papers in Europe PMC
  4. 04
    Wangler MF7 papers · 2025

    Department of Molecular and Human Genetics, Baylor College of Medicine, Duncan Neurological Research Institute, DNRI-1050, Houston, TX 77030, USA. Electronic address: michael.wangler@bcm.edu.

    Papers in Europe PMC
  5. 05
    Braverman N6 papers · 2025

    Child Health and Human Development Axis, Research Institute of the McGill University Health Centre, Montréal, Québec, Canada; Department of Human Genetics, McGill University, Montréal, Québec, Canada. Electronic address: nancy.braverman@mcgill.ca.

    Papers in Europe PMC
  6. 06
    Ferdinandusse S6 papers · 2023

    Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

    Papers in Europe PMC
  7. 07
    Klouwer FCC6 papers · 2024

    Department of Paediatric Neurology/Emma Children's Hospital, Amsterdam University Medical Centers, Amsterdam, The Netherlands.

    Papers in Europe PMC
  8. 08
    Poll-The BT5 papers · 2019

    Department of Pediatric Neurology, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

    Papers in Europe PMC
  9. 09
    Setchell KDR5 papers · 2025

    Pathology and Laboratory Medicine, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.

    Papers in Europe PMC
  10. 10
    Vaz FM5 papers · 2024

    Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands. f.m.vaz@amc.uva.nl.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

4

interventional trials for this specific condition

4 interventional trials matched this specific condition name; none in our sample are currently recruiting.

Data as of 11 September 2026

4 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 88.1th percentile).

low confidence · 88.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Observational and natural-history studies

3 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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · 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).

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 Zellweger 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.

"Zellweger syndrome" OR "Cerebrohepatorenal syndrome" OR "Severe PBD-ZSD" OR "Severe peroxisome biogenesis disorder-Zellweger spectrum disorder" OR "Zellweger spectrum disorders"

Run this search on Europe PMC

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

"Zellweger syndrome" OR "Cerebrohepatorenal syndrome" OR "Severe PBD-ZSD" OR "Severe peroxisome biogenesis disorder-Zellweger spectrum disorder" OR "Zellweger spectrum disorders"

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: 4 interventional · 3 observational · 0 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: ZS; ZWS

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • 2 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T15:53:54.918Z