An observational study in Brain Disorders and Aicardi Syndrome, sponsored by University of California, San Francisco. Recruiting at 1 site in United States. Per ClinicalTrials.gov, last updated 2026-08-17.
Sponsored by University of California, San Francisco · Observational
Dr. Elliott Sherr and his collaborators at University of California, San Francisco (UCSF) are studying the genetic causes of disorders of cognition and epilepsy, in particular disorders of brain development that affect the corpus callosum, such as Aicardi syndrome, as well as two additional brain malformations, polymicrogyria and Dandy-Walker malformation. The goal of the investigators' research is to use a better understanding of the underlying genetic causes as a foundation to develop better treatments for these groups of patients.
We are studying both the genetics and clinical features of these disorders. We hope to understand the problems faced by individuals with these disorders as well as their causes. In the future, we hope to develop therapies that are geared specifically for individuals based on the underlying biology. To participate in the study, you will be asked to provide a copy of the magnetic resonance imaging (MRI) documenting Agenesis Corpus Callosum (ACC), Polymicrogyria (PMG), or Dandy-Walker malformation (DWM), clinical information, and saliva or blood samples from the affected individual and from the parents. Please see contact information and our webpage below.
502 studies on the registry are indexed under Brain Diseases; 141 are open to participants now.
This study's planned enrollment of 2,000 is above the median of 149 across 144 observational studies indexed under Brain Diseases.
Browse Brain Diseases studies →University of California, San Francisco is the lead sponsor of 2,169 studies on the registry; 372 are open to participants now.
Of its 267 completed or terminated interventional studies of FDA-regulated products, 202 (76%) have results posted.
Counted across the registry records on this site, refreshed daily.
Individuals with agenesis or dysgenesis of the corpus callosum, polymicrogyria, or cerebellar hypoplasia.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion Criteria:
Started Aug 2003 (actual). Primary completion is estimated for Jan 2027, 281 months after the start.
Of 78 non-industry observational studies under Brain Diseases, half reached primary completion within 62 months of starting (the median), counting those still running; a quarter within 23 and three quarters within 193. This study's planned 281 months is above that.
Counting every sponsor, half of 87 studies reached it within 62 months; a quarter within 22 and three quarters within 193.
How these figures are worked out, and which studies are left out of them.
Eligibility is decided by the study team. Share this record with your doctor or contact the team directly.
Contact study teamGet an email when the registry record changes — status, dates, results — or when someone posts here.
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University of California, San Francisco →