ORPHA:268994
Isolated focal cortical dysplasia type II
Also known as: Cortical dysplasia, Taylor type · FCD type II · Isolated focal cortical dysplasia type 2
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
561
81.8th percentile
Trials
1
Interventional, condition-specific
Researchers
1,348
Distinct authors in sample
Gene link
—
Readiness
3/6
Stages with a signal
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:0011818
- MeSH:C537067
- OMIM:607341
- UMLS:C1846385
Additional Mondo synonyms (3)
cortical dysplasia, Taylor type · focal cortical dysplasia, type II, somatic · isolated focal cortical dysplasia type 2
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 identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
561 matched papers (436 in last 10 years) Source
- Phenotype characterisedPresent
9 HPO annotations (e.g. Focal cortical dysplasia type II; Focal white matter lesions; Cortical dysplasia) 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 trialPresent
1 matched on ClinicalTrials.gov
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)
9
Associated phenotypes · MONDO:0011818
- Focal cortical dysplasia type II
- Focal white matter lesions
- Cortical dysplasia
- Intellectual disability
- Astrocytosis
Showing 5 of 9 — 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
2
Drugs / clinical candidates · MONDO_0011818
- PAXALISIB·phase 1 2
- RADIPRODIL·phase 1 2
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
561
561 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.
561 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).
436 in the last 10 years · high confidence · 81.8th percentile (publications denominator)
Phrase hits: 561 · MeSH hits: 0
Who's working on it?
1,348
Distinct author names in 200 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.
- 01Wang S16 papers · 2026
Department of Neurology and Epilepsy Center, Research Center of Neurology in Second Affiliated Hospital, Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University School of Medicine, Hangzhou, China.
Papers in Europe PMC - 02Liu X10 papers · 2026
Department of Pediatrics, Peking University First Hospital, Beijing, China.
Papers in Europe PMC - 03Zhang K10 papers · 2026
Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.
Papers in Europe PMC - 04Cendes F9 papers · 2024
Department of Neurology, University of Campinas and Brazilian Institute of Neuroscience and Neurotechnology, Campinas, Brazil.
Papers in Europe PMC - 05Wang X9 papers · 2026
Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.
Papers in Europe PMC - 06Wang Y9 papers · 2026
Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing 100053, People's Republic of China.
Papers in Europe PMC - 07Lopes-Cendes I8 papers · 2024
Department of Medical Genetics, University of Campinas and Brazilian Institute of Neuroscience and Neurotechnology, Campinas, Brazil.
Papers in Europe PMC - 08Rogerio F8 papers · 2024
Department of Anatomical Pathology, University of Campinas and Brazilian Institute of Neuroscience and Neurotechnology, Campinas, Brazil.
Papers in Europe PMC - 09Yasuda CL8 papers · 2024
Department of Neurology, University of Campinas and Brazilian Institute of Neuroscience and Neurotechnology, Campinas, Brazil.
Papers in Europe PMC - 10Aronica E7 papers · 2026
Amsterdam UMC, Department of (Neuro)Pathology, Amsterdam Neuroscience, University of Amsterdam, Amsterdam, Netherlands.
Papers 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; none in our sample are currently recruiting.
Data as of 11 September 2026
1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).
high confidence · 80.1th 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.
No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.
Broader category: isolated focal cortical dysplasia
0
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Parent-category matching found a broader label but no interventional trials under it. How we count trials.
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 4 · after dedupe 4 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 4 · 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 (4)
- ctis·2026-525162-21-00·Authorised·A Phase 2a, multi centric, open label clinical study to explore the safety and tolerability, the pharmacokinetics and pharmacodynamics profile and first signs of efficacy of PTI5803 administered as adjunctive therapy with a 3-dose escalation regimen in patients >= 14 years of age with drug-resistant seizures associated to focal cortical dysplasia, followed by an optional open-label extension study.
skipped — LLM skipped (--skip-llm)
- ctis·2024-515950-25-00·Cancelled·Open, randomized, IInd phase clinical study evaluating the safety and efficacy of rapamycin in the treatment of drug-resistant epilepsy in children with rare and ultra rare diseases of the central nervous system associated with the activation of the mTOR pathway : BraimTOR-NEURO
skipped — LLM skipped (--skip-llm)
- ctis·2023-506301-20-00·Expired·A Multicenter, Open-label Study to Assess the Safety, Tolerability, Pharmacokinetics, and Effect on Seizures and Behavioral Symptoms of Radiprodil in Patients with Tuberous Sclerosis Complex (TSC) or Focal Cortical Dysplasia (FCD) Type II.
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN41638605·Stopped·Evaluating dietary intervention before surgical treatment for epilepsy
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 Isolated focal cortical dysplasia type II — 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.
"Isolated focal cortical dysplasia type II" OR "Cortical dysplasia, Taylor type" OR "FCD type II" OR "Isolated focal cortical dysplasia type 2" OR "focal cortical dysplasia, type II, somatic"
MeSH descriptor terms unioned into the query: Focal cortical dysplasia of Taylor
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Isolated focal cortical dysplasia type II" OR "Cortical dysplasia, Taylor type" OR "FCD type II" OR "Isolated focal cortical dysplasia type 2" OR "focal cortical dysplasia, type II, somatic" OR "Focal cortical dysplasia of Taylor"
Interventional trials matched via: phrase (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:
"isolated focal cortical dysplasia"
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
Ingested 2026-07-27T11:32:46.694Z