RecruitingNCT00305305
Neurological
Aicardi Syndrome
Also known as Corpus callosum agenesis with infantile spasms and chorioretinal lacunae, Aicardi-Goutieres overlap (distinct)
Aicardi syndrome is a rare neurodevelopmental disorder occurring almost exclusively in females, characterized by the classic triad of corpus callosum agenesis (or other callosal malformations), infantile spasms, and chorioretinal lacunae (d
ORPHA:50 ↗Gene Unknown (presumed X-linkedGene no gene confirmed)Prevalence 1-9 per 100,000 (Orphanet)Onset InfantileX-linked dominant (lethal in males, de novo in females)
3
studies recruiting now
as of 7 Sept 2026
13
studies registered in total
as of 7 Sept 2026
1
countries with a recruiting site
as of 7 Sept 2026
9 Feb 2017
most recent study posted
among recruiting studies
Recruiting trials
RecruitingNCT00697411
Study of Selected X-Linked Disorders: Aicardi Syndrome
RecruitingNCT03047369
The Myelin Disorders Biorepository Project
Showing the 3 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
Search all Aicardi Syndrome studiesWhere recruiting studies are running
Countries with at least one recruiting site among the studies above, 7 Sept 2026. Tap a country to search trials there.
Keep watching
Get an email when a new Aicardi Syndrome study opens.
One email a day at most. Unsubscribe with one click.
Used only for these alerts. Privacy.
Support
Patient organisations
Registry: Aicardi Syndrome Registry · Join ↗. Registries connect patients to researchers and often hear about trials first.
About Aicardi Syndrome
Aicardi syndrome is a rare neurodevelopmental disorder occurring almost exclusively in females, characterized by the classic triad of corpus callosum agenesis (or other callosal malformations), infantile spasms, and chorioretinal lacunae (distinctive retinal lesions). Additional features include intellectual disability, vertebral and rib abnormalities, and choroid plexus papillomas. The causative gene has not been definitively identified; mutations in NEXMIF (KIAA2022) have been found in some patients.
Common clinical features
Corpus callosum agenesisInfantile spasmsChorioretinal lacunaeSevere intellectual disabilityVertebral anomaliesChoroid plexus papillomasAbsence of corpus callosum on MRI
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Before you apply
Things trial teams commonly ask about for Aicardi Syndrome. Not eligibility rules; those are set by each study.
- Classic triad (callosal agenesis, infantile spasms, chorioretinal lacunae) must be documented — ophthalmological confirmation of lacunae is critical
- Brain MRI documentation of corpus callosum abnormality and ophthalmology report documenting lacunae are required at screening
- No causative gene is confirmed — genetic panels are performed to exclude other conditions; results should be shared with trial coordinators
- Natural history and observational studies are the primary research participation avenue given the lack of targeted therapies
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).