ORPHA:208447
Bilateral generalized polymicrogyria
Publications
20
30.9th percentile
Trials
1
Interventional, condition-specific
Researchers
200
Distinct authors in sample
Gene link
RTTN
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:0013907
- UMLS:C5139324
Additional Mondo synonyms (2)
bilateral generalized polymicrogyria · microcephaly, short stature, and polymicrogyria with seizures
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
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Moderate — RTTN
- LiteraturePresent
20 matched papers (13 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 trialPresent
1 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?
Probably — there is moderate evidence for RTTN.
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?
20
20 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.
20 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).
13 in the last 10 years · high confidence · 30.9th percentile (publications denominator)
Phrase hits: 20 · MeSH hits: 0
Who's working on it?
200
Distinct author names in 20 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.
- 01Walsh CA4 papers · 2023
Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, and Allen Discovery Center for Human Brain Evolution, Boston, Massachusetts.
Papers in Europe PMC - 02Andermann E3 papers · 2023
Department of Neurology & Neurosurgery, McGill University, Montreal, Quebec, Canada.
Papers in Europe PMC - 03Barkovich AJ3 papers · 2023
Benioff Children's Hospital, Departments of Radiology, Pediatrics, Neurology, and Neurological Surgery, University of California, San Francisco, San Francisco.
Papers in Europe PMC - 04Jansen A3 papers · 2021
Montreal Neurological Hospital and Institute, Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada.
Papers in Europe PMC - 05Leventer RJ3 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 - 06Amrom D2 papers · 2023
Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, Quebec, Canada.
Papers in Europe PMC - 07Bhat V2 papers · 2024
Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Papers in Europe PMC - 08Bodell A2 papers · 2005Papers in Europe PMC
- 09Chang BS2 papers · 2005
Division of Neurogenetics, Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA. bchang@bidmc.harvard.edu
Papers in Europe PMC - 10Dobyns WB2 papers · 2010Papers in Europe PMC
Clinical research
Is a treatment being tested?
1
interventional trials for this specific condition
1 interventional trial matched this specific condition name; 1 currently recruiting in our sample. 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
1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).
high confidence · 76.8th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
1 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT06111950·RECRUITING·Study of the Pathophysiology of RNU4ATAC and RTTN Associated Syndromes
Conditions: Taybi Linder Syndrome · Microcephalic Osteodysplastic Primordial Dwarfism Types I and III · Roifman Syndrome · Lowry Wood Syndrome·Matched via recall expansion
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 generalized polymicrogyria" OR "microcephaly, short stature, and polymicrogyria with seizures"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Bilateral generalized polymicrogyria" OR "microcephaly, short stature, and polymicrogyria with seizures" OR "RTTN"
Recall-expansion terms: RTTN
Interventional trials matched via: recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 1 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"polymicrogyria"
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
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 2026-07-27T09:23:34.433Z