Aicardi syndrome
MONDO:0010568Aicardi syndrome is a rare neurodevelopmental disorder defined by the triad of agenesis of the corpus callosum (total or partial), typical chorioretinal lacunae and infantile spasms that affect almost exclusively females.
Also known as: AIC, Aicardi syndrome, 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
2 clinical trials for this condition and its sub-types.
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Can genes explain brain malformations?
Knowledge-focused Recruiting nowThis study aims to understand the genetic causes of brain development disorders, including Aicardi syndrome, polymicrogyria, and Dandy-Walker malformation. Researchers will analyze genetic data from 2000 participants with these conditions, all confirmed by MRI. The goal is to use…
Sponsor: University of California, San Francisco • Aim: Knowledge-focused
Last updated Aug 18, 2026 02:00 UTC
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Scientists hunt for the gene behind rare brain disorder
Knowledge-focused Recruiting nowThis study aims to find the specific gene that causes Aicardi syndrome, a rare brain disorder. Researchers will collect blood and skin samples from up to 500 patients and their parents to analyze their DNA. The goal is to identify genetic changes unique to people with Aicardi syn…
Sponsor: Baylor College of Medicine • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:28 UTC