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ORPHA:208441

Bilateral parasagittal parieto-occipital polymicrogyria

low confidenceSubtype of disorder

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

2,528

Trials

0

Interventional, condition-specific

Researchers

45

Distinct authors in sample

Gene link

FIG4

Moderate

Readiness

4/6

Stages with a signal

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.”

4/6 stages with a signal

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Moderate — FIG4

  2. LiteraturePresent

    2,528 matched papers (1,597 in last 10 years) Source

  3. Phenotype characterisedPresent

    38 HPO annotations (e.g. Delayed speech and language development; Delayed gross motor development; Cortical dysplasia) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

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

  6. Interventional trialPartial

    None under the specific name; 3 for broader category polymicrogyria

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?

Probably — there is moderate evidence for FIG4.

GenCC classification: Moderate.

Phenotypes (Monarch / HPO)

38

Associated phenotypes · MONDO:0012986

  • Delayed speech and language development
  • Delayed gross motor development
  • Cortical dysplasia
  • Delayed fine motor development
  • Atypical behavior

Showing 5 of 38 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

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

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

2,528

2,528 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.

2,528 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).

1,597 in the last 10 years · low confidence

Phrase hits: 10 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

45

Distinct author names in 10 sampled papers — named people below.

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    Barkovich AJ3 papers · 2010

    Department of Radiology, University of California, San Francisco 94143, USA.

    Papers in Europe PMC
  2. 02
    Guerrini R3 papers · 2010

    Division of Neurology, King's College, University of London, UK. R.Guerrini@iop.kcl.ac.uk

    Papers in Europe PMC
  3. 03
    Jansen A3 papers · 2021

    Montreal Neurological Hospital and Institute, Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada.

    Papers in Europe PMC
  4. 04
    Andermann E2 papers · 2010
    Papers in Europe PMC
  5. 05
    Dobyns WB2 papers · 2010
    Papers in Europe PMC
  6. 06
    Leventer RJ2 papers · 2021

    Children's Neuroscience Centre, Royal Children's Hospital, Flemington Road, Parkville, Melbourne 3052, Australia. richard.leventer@rch.org.au

    Papers in Europe PMC
  7. 07
    Mandelstam S2 papers · 2021

    Murdoch Children's Research Institute, Melbourne, 3052, Australia.

    Papers in Europe PMC
  8. 08
    Sztriha L2 papers · 2002

    Department of Paediatrics, Faculty of Medicine and Health Sciences, United Arab Emirates University, United Arab Emirates. sztriha@aueu.ac.ae

    Papers in Europe PMC
  9. 09
    Andermann F1 paper · 2010
    Papers in Europe PMC
  10. 10
    Anitha A1 paper · 2022

    Department of Neurogenetics, Institute for Communicative and Cognitive Neurosciences (ICCONS), Shoranur, Palakkad, Kerala, India.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 3 trials are registered for polymicrogyria, the broader category — shown separately because they may or may not enrol this specific subtype.

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

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

3 interventional trials matched polymicrogyria, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: polymicrogyria

3

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.

Recruiting under the broader category

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 2026-07-30

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 Bilateral parasagittal parieto-occipital polymicrogyria — 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.

("Bilateral parasagittal parieto-occipital polymicrogyria") OR (MESH:"Polymicrogyria, Bilateral Occipital") OR ("FIG4" OR "FIG4 syndrome" OR "FIG4-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Polymicrogyria, Bilateral Occipital

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

"Bilateral parasagittal parieto-occipital polymicrogyria" OR "Polymicrogyria, Bilateral Occipital"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"polymicrogyria"

Query health: suspect — strategies attempted: phrase, mesh; with hits: phrase

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (2528) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T09:23:15.917Z