ORPHA:50
Aicardi syndrome
Also known as: Agenesis of corpus callosum with chorioretinal abnormality
Publications
5,400
Trials
0
Interventional, condition-specific
Researchers
1,523
Distinct authors in sample
Gene link
OCEL1, TEAD1
Limited
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare neurodevelopmental disorder characterized by the classic triad of agenesis of the corpus callosum (total or partial), central chorioretinal lacunae and spasms that affects almost exclusively females.
How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0010568
- MeSH:D058540
- OMIM:304050
- UMLS:C0175713
- NCIT:C35256
Additional Mondo synonyms (6)
AIC · Aicardi syndrome, X-linked dominant · Aicardi’s syndrome · agenesis of corpus callosum with chorioretinal abnormality · corpus callosum agenesis of with chorioretinal abnormality · corpus callosum, agenesis of, with chorioretinal abnormality
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
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Limited — OCEL1, TEAD1
- LiteraturePresent
5,400 matched papers (4,195 in last 10 years) Source
- Phenotype characterisedPresent
105 HPO annotations (e.g. Cavum septum pellucidum; Delayed CNS myelination; Carcinoma) 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 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?
Possibly — only limited evidence so far for OCEL1, TEAD1.
GenCC classification: Limited.
Phenotypes (Monarch / HPO)
105
Associated phenotypes · MONDO:0010568
- Cavum septum pellucidum
- Delayed CNS myelination
- Carcinoma
- Seizure
- Microphthalmia
Showing 5 of 105 — 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)
1 associated chemical. Therapeutic evidence is listed first when present — not a treatment recommendation.
- Adrenocorticotropic Hormone · marker/mechanism
Literature
Is anyone studying this?
5,400
5,400 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
5,400 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).
4,195 in the last 10 years · low confidence
Phrase hits: 790 · MeSH hits: 0
Who's working on it?
1,523
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.
- 01
- 02Zhang Y15 papers · 2026
Department of Gastroenterology, The Third Affiliated Hospital of Wenzhou Medical University, Zhejiang, China.
Papers in Europe PMC - 03
- 04
- 05
- 06Li L6 papers · 2026
State Key Laboratory of Oncology in South China, Guangdong Key Laboratory of Nasopharyngeal Carcinoma Diagnosis and Therapy, Guangdong Provincial Clinical Research Center for Cancer, Sun Yat-sen University Cancer Center, Guangzhou, China.
Papers in Europe PMC - 07Liu Y6 papers · 2026
Department of Medical Oncology, The First Hospital of China Medical University, Shenyang, Liaoning, China.
Papers in Europe PMC - 08Wu J6 papers · 2026
Department of Orthopaedic, The Fourth Medical Centre, Chinese PLA General Hospital, Beijing, China.
Papers in Europe PMC - 09Yang Y6 papers · 2026
State Key Laboratory of Magnetic Resonance Spectroscopy and Imaging, Key Laboratory of Magnetic Resonance in Biological Systems, National Center for Magnetic Resonance in Wuhan, Wuhan Institute of Physics and Mathematics, Innovation Academy for Precision Measurement Science and Technology, Chinese Academy of Sciences - Wuhan National Laboratory for Optoelectronics, Wuhan, China. yang_yh@apm.ac.cn.
Papers in Europe PMC - 10Zhang X6 papers · 2026
Laboratory of Genetic Breeding, Reproduction and Precision Livestock Farming & Hubei Provincial Center of Technology Innovation for Domestic Animal Breeding, School of Animal Science and Nutritional Engineering, Wuhan Polytechnic University, Wuhan 430023, China.
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. 2 observational studies did — shown below because natural-history and cohort work can be an important step toward a trial.
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.
low 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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Observational and natural-history studies
2 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
Recruiting or not-yet-recruiting
- NCT00305305·RECRUITING·Brain Development Research Program
Conditions: Brain Disorders · Aicardi Syndrome·Matched via name phrase
- NCT00697411·RECRUITING·Study of Selected X-Linked Disorders: Aicardi Syndrome
Conditions: Aicardi Syndrome · Brain Disorders·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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · dropped 0 · fetched 2026-07-29
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 (1)
- isrctn·ISRCTN15569205·Stopped·A clinical study to learn whether a new drug, TPN-101, is safe when given to AGS patients
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 Aicardi syndrome — 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.
("Aicardi syndrome" OR "Agenesis of corpus callosum with chorioretinal abnormality" OR "Agenesis of the corpus callosum with chorioretinal abnormality" OR "Aicardi syndrome, X-linked dominant" OR "Aicardi’s syndrome" OR "corpus callosum agenesis of with chorioretinal abnormality" OR "corpus callosum agenesis of the with chorioretinal abnormality" OR "corpus callosum, agenesis of, with chorioretinal abnormality") OR ("OCEL1" OR "OCEL1 syndrome" OR "OCEL1-related" OR "TEAD1" OR "TEAD1 syndrome" OR "TEAD1-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Aicardi syndrome" OR "Agenesis of corpus callosum with chorioretinal abnormality" OR "Agenesis of the corpus callosum with chorioretinal abnormality" OR "Aicardi syndrome, X-linked dominant" OR "Aicardi’s syndrome" OR "corpus callosum agenesis of with chorioretinal abnormality" OR "corpus callosum agenesis of the with chorioretinal abnormality" OR "corpus callosum, agenesis of, with chorioretinal abnormality"
Study-type breakdown: 0 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: AIC
Confidence reasoning
- Preferred label is short or not clearly distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T12:14:23.842Z