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
Clinical Trial Eligibility Tips
What to know before applying to Aicardi Syndrome trials.
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
Patient Resources
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