ORPHA:268943
Unilateral polymicrogyria
Publications
78
46.9th percentile
Trials
0
Interventional, condition-specific
Researchers
587
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Unilateral polymicrogyria is a cerebral cortical characterized by unilateral excessive cortical folding and abnormal cortical layering. It comprises two sub-types depending on the areas affected: unilateral hemispheric and focal polymicrogyria.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0017092
- UMLS:C4024960
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.”
2/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
78 matched papers (35 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
78
78 papers have ever been published on this condition (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.
78 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).
35 in the last 10 years · high confidence · 46.9th percentile (publications denominator)
Phrase hits: 78 · MeSH hits: 0
Who's working on it?
587
Distinct author names in 78 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 AJ6 papers · 2016
Department of Radiology, University of California, San Francisco, California, U.S.A.
Papers in Europe PMC - 02Caraballo RH5 papers · 2016
Servicio de Neurología, Hospital de Pediatría, Prof. Juan P. Garrahan, Buenos Aires, Argentina.
Papers in Europe PMC - 03Fejerman N5 papers · 2013
Department of Neurology, Juan P. Garrahan Pediatric Hospital, Buenos Aires, Argentina. natalio@fejerman.com
Papers in Europe PMC - 04Caraballo R4 papers · 2026
Servicio de Neurologia, Hospital de Niños J. P. Garrahan, Buenos Aires, Argentina.
Papers in Europe PMC - 05Dobyns WB4 papers · 2016
Departments of Pediatrics and Neurology, University of Washington, Seattle, WA, USA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.
Papers in Europe PMC - 06Feucht M4 papers · 2020
Department of Pediatrics and Adolescent Medicine, Affiliated Partner of the ERN EpiCARE, Medical University Vienna, Vienna, Austria.
Papers in Europe PMC - 07Guerrini R4 papers · 2016
Department of Neuroscience, Pharmacology and Child Health, Children's Hospital A Meyer and University of Florence, Florence, Italy; Stella Maris Foundation Research Institute, Pisa, Italy. Electronic address: r.guerrini@meyer.it.
Papers in Europe PMC - 08Andermann E3 papers · 2026
Neurogenetics Unit and Epilepsy Research Group, Montreal Neurological Institute and Hospital, Department of Neurology and Neurosurgery and Human Genetics, McGill University, Montreal, Quebec, Canada.
Papers in Europe PMC - 09Cersósimo RO3 papers · 2013
Department of Neurology, Hospital Nacional de Pediatría Juan P Garrahan, Buenos Aires, Argentina.
Papers in Europe PMC - 10Walsh CA3 papers · 2026
Department of Pediatrics and Neurology, Harvard Medical School, Boston, MA.
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.
"Unilateral polymicrogyria"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Unilateral 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: ok — strategies attempted: phrase; 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 2026-07-27T11:31:49.357Z