ORPHA:208441
Bilateral parasagittal parieto-occipital polymicrogyria
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
10
15.2th percentile
Trials
0
Interventional, condition-specific
Researchers
45
Distinct authors in sample
Gene link
FIG4
Moderate
Readiness
3/6
Stages with a signal
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0012986
- MeSH:C567201
- OMIM:612691
- UMLS:C4013648
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.”
3/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Moderate — FIG4
- LiteraturePresent
10 matched papers (3 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
10
10 papers have ever been indexed under this name. For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
10 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
3 in the last 10 years · high confidence · 15.2th percentile (publications denominator)
Phrase hits: 10 · MeSH hits: 0
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.
- 01Barkovich AJ3 papers · 2010
Department of Radiology, University of California, San Francisco 94143, USA.
Papers in Europe PMC - 02Guerrini R3 papers · 2010
Division of Neurology, King's College, University of London, UK. R.Guerrini@iop.kcl.ac.uk
Papers in Europe PMC - 03Jansen A3 papers · 2021
Montreal Neurological Hospital and Institute, Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada.
Papers in Europe PMC - 04Andermann E2 papers · 2010Papers in Europe PMC
- 05Dobyns WB2 papers · 2010Papers in Europe PMC
- 06Leventer 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 - 07Mandelstam S2 papers · 2021
Murdoch Children's Research Institute, Melbourne, 3052, Australia.
Papers in Europe PMC - 08Sztriha 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 - 09Andermann F1 paper · 2010Papers in Europe PMC
- 10Anitha 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 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th 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
- NCT06789913·RECRUITING·A Phase 2 Study of Mutant-selective PI3Kα Inhibitor, RLY-2608, in Adults and Children With PIK3CA Related Overgrowth Spectrum and Malformations Driven by PIK3CA Mutation (The ReInspire Study)
Conditions: PIK3CA-Related Overgrowth Spectrum (PROS) · Lymphatic Malformations · Vascular Malformations · PIK3CA Mutation·Matched via name phrase
- NCT05577754·RECRUITING·Assessment of the Efficacy and Safety of Alpelisib (BYL719) in Pediatric and Adult Patients With Megalencephaly-CApillary Malformation Polymicrogyria Syndrome (MCAP)
Conditions: Megalencephaly-capillary Malformation Polymicrogyria Syndrome (MCAP)·Matched via name phrase
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This 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"
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" OR "FIG4" OR "bilateral polymicrogyria"
Recall-expansion terms: FIG4, bilateral polymicrogyria
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, recall-expansion; 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
Ingested 2026-07-27T09:23:15.917Z