ORPHA:208447
Bilateral generalized polymicrogyria
Publications
391
74.4th percentile
Trials
0
Interventional, condition-specific
Researchers
200
Distinct authors in sample
Gene link
RTTN
Moderate
Readiness
4/6
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.”
4/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Moderate — RTTN
- LiteraturePresent
391 matched papers (284 in last 10 years) Source
- Phenotype characterisedPresent
51 HPO annotations (e.g. Delayed ability to walk; Generalized-onset seizure; Cerebral visual impairment) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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 RTTN.
GenCC classification: Moderate.
Phenotypes (Monarch / HPO)
51
Associated phenotypes · MONDO:0013907
- Delayed ability to walk
- Generalized-onset seizure
- Cerebral visual impairment
- Autistic behavior
- Generalized myoclonic seizure
Showing 5 of 51 — 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?
391
391 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=3967) is 59.
391 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).
284 in the last 10 years · high confidence · 74.4th 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?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 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?
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.
high 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
- 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
- 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
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 12 · after dedupe 11 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 11 · 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).
Uncertain / not reviewed (11)
- ctis·2025-523832-38-00·Authorised·Multicenter Interventional Study Somatrogon Impact on Outcomes in Naive Small for Gestational Age or Idiopathic Short Stature paediatric patients compared with daily growth hormone
skipped — LLM skipped (--skip-llm)
- ctis·2025-523509-13-00·Authorised, ongoing·Phase 2, Open-Label, Long-Term, Extension (OLE) Study of Infigratinib, an FGFR 1-3-Selective Tyrosine Kinase Inhibitor, in Children with Hypochondroplasia: ACCEL OLE
skipped — LLM skipped (--skip-llm)
- ctis·2025-523079-44-00·Authorised, ongoing·HighLiGHts - A Pivotal, Parallel-Arm, Phase 3, Open-Label, Active-controlled, Global, Multicenter, Randomized Basket Trial Investigating the Efficacy and Safety of Once-weekly Lonapegsomatropin Compared to Daily Somatropin in Prepubertal Children and Adolescents with Growth Failure or Short Stature due to Growth Hormone Sufficient Disorders – Turner Syndrome, SHOX Deficiency, Small for Gestational Age, and Idiopathic Short Stature
skipped — LLM skipped (--skip-llm)
- ctis·2024-516822-67-00·Authorised, ongoing·A Phase 2/3, Multicenter, Open-Label Phase Followed by a Double-Blind, Randomized, Placebo-Controlled Study to Evaluate the Efficacy and Safety of Infigratinib in Children with Hypochondroplasia: ACCEL 2/3
skipped — LLM skipped (--skip-llm)
- ctis·2024-520137-74-00·Authorised, ongoing·A Phase 2, Randomized, Controlled, Multicenter Study of Vosoritide in Children With Idiopathic Short Stature
skipped — LLM skipped (--skip-llm)
- ctis·2024-515861-33-00·Authorised, recruiting·A Phase 2, Randomized, Multicenter, Study of Vosoritide in Children with Noonan Syndrome with Inadequate Growth During or After Human Growth Hormone Treatment
skipped — LLM skipped (--skip-llm)
- ctis·2023-506927-27-00·Expired·A study comparing the effect and safety of once weekly dosing of somapacitan with daily Norditropin® as well as evaluating long-term safety of somapacitan in a basket study design in children with short stature either born small for gestational age or with Turner syndrome, Noonan syndrome, or idiopathic short stature
skipped — LLM skipped (--skip-llm)
- ctis·2023-506830-66-00·Expired·A dose-finding trial evaluating the effect and safety of once-weekly treatment of somapacitan compared to daily Norditropin® in children with short stature born small for gestational age with no catch-up growth by 2 years of age or older
skipped — LLM skipped (--skip-llm)
- ctis·2023-508864-31-00·Expired·A Phase 3, Open-Label Long-Term Extension Study to Evaluate the Safety and Efficacy of BMN 111 in Children with Achondroplasia
skipped — LLM skipped (--skip-llm)
- ctis·2022-500306-17-00·Expired·A multi-center, randomized, active controlled clinical trial to evaluate the efficacy and safety of OTL-203 in subjects with mucopolysaccharidosis type I, Hurler syndrome (MPS-IH) compared to standard of care with allogeneic hematopoietic stem cell transplantation (allo-HSCT)
skipped — LLM skipped (--skip-llm)
- ctis·2022-501055-87-01·Expired·A study evaluating the safety and efficacy of once-weekly dosing of somapacitan in a basket study design in paediatric participants with short stature either born small of gestational age or with Turner syndrome, Noonan syndrome or idiopathic short stature
skipped — LLM skipped (--skip-llm)
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 generalized polymicrogyria — check Associations / patient organisations on that page.
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") OR ("RTTN" OR "RTTN syndrome" OR "RTTN-related")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"
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 2026-07-27T09:23:34.433Z