ORPHA:268961
Isolated focal cortical dysplasia type I
Also known as: FCD type I
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
372
82.6th percentile
Trials
0
Interventional, condition-specific
Researchers
1,429
Distinct authors in sample
Gene link
—
Readiness
1/6
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:0017095
- UMLS:C5679772
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
372 matched papers (261 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 trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
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?
372
372 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.
372 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).
261 in the last 10 years · high confidence · 82.6th percentile (publications denominator)
Phrase hits: 372 · MeSH hits: 0
Who's working on it?
1,429
Distinct author names in 200 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.
- 01Wang X13 papers · 2025
Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.
Papers in Europe PMC - 02Wang Y11 papers · 2026
Department of Neurology, Institutes of Brain Science, State Key Laboratory of Medical Neurobiology and MOE Frontiers Center for Brain Science, Institute of Biological Science, Zhongshan Hospital, Fudan University, Shanghai, 200032, China. yunwang@fudan.edu.cn.
Papers in Europe PMC - 03Wang S10 papers · 2025
Department of Pediatrics, Peking University First Hospital, Beijing, China.
Papers in Europe PMC - 04Guerrini R9 papers · 2025
From the IRCCS Meyer Children's Hospital (C.B., V.C., L.D.I., L.M., R.G.), Florence, Italy; University of Florence (C.B., L.G., R.G.), Florence, Italy; University Hospital Erlangen (I.B.), Germany; Columbia University (M.R.W., P.D.C.), New York, NY; Neurorehabilitation and Epileptology (T.H., I.M.), Vogtareuth, Germany; PMU Salzburg (T.H.), Austria; Yonsei University College of Medicine (H.-C.K., H.J.S.), Seoul, Republic of Korea; Rothschild Foundation Hospital (M.C.), Paris, France; Krankenhaus Mara (C.G.B., F.G.W., A.G., T.P.), Bielefeld University, Medical School, Germany; Charles University (B.H., B.S., L.K., P.K.), 2nd Faculty of Medicine and Motol University Hospital, Prague, Czech Republic; Stanford University (B.E.P., H.V.), School of Medicine Stanford, CA; Boston Children's Hospital and Harvard Medical School (H.G.W.L., E.Y., A.P.), MA; Society of Epilepsy Research (F.G.W.), Bielefeld, Germany; Case Western Reserve University (J.A.L.-R.), OH; Cleveland Clinic (J.A.L.-R., D.L.), Cleveland, OH; Sorbonne University (Sara Baldassari, Stéphanie Baulac), Paris Brain Institute (ICM), INSERM, CNRS, AP-HP, Pitié-Salpêtrière Hospital, France; Lucile Packard Children's Hospital at Stanford University (G.A.G.), School of Medicine Stanford, CA; Korea Advanced Institute of Science and Technology (A.K., J.H.L.), Daejeon, South Korea; University of Maryland School of Medicine (P.B.C.), Baltimore, MD; and Broad Institute of Harvard and M.I.T (D.L.), Cambridge, MA.
Papers in Europe PMC - 05Tassi L9 papers · 2026
"C. Munari" Center of Epilepsy Surgery, Niguarda Hospital, Milan, Italy.
Papers in Europe PMC - 06Zhang K9 papers · 2025
Beijing Key Laboratory of Neurostimulation, Beijing, China.
Papers in Europe PMC - 07Cohen NT8 papers · 2026
Center for Neuroscience Research, Children's National Hospital, The George Washington University School of Medicine, Washington, DC, USA.
Papers in Europe PMC - 08Gaillard WD8 papers · 2026
Center for Neuroscience, Children's National Health System, George Washington University, Washington, District of Columbia, U.S.A.
Papers in Europe PMC - 09Hu W8 papers · 2025
Beijing Neurosurgical Institute, Capital Medical University, Beijing, People's Republic of China.
Papers in Europe PMC - 10de Curtis M7 papers · 2026
Epilepsy Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
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).
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.
Broader category isolated focal cortical dysplasia also has no matched interventional trial. See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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.
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.
"Isolated focal cortical dysplasia type I" OR "FCD type I"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Isolated focal cortical dysplasia type I" OR "FCD type I" OR "cerebral cortical dysplasia"
Recall-expansion terms: cerebral cortical dysplasia
Study-type breakdown: 0 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, 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 2026-07-27T11:32:08.029Z