Brain Development Research Program

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.

Recruiting

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Key information

Conditions

Brain Disorders Agenesis of Corpus Callosum Aicardi Syndrome Autism Spectrum Disorder Autistic Disorder Brain Diseases Central Nervous System Diseases Child Development Disorders, Pervasive Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Epilepsy Eye Diseases Eye Diseases, Hereditary Genetic Diseases, Inborn Genetic Diseases, X-Linked Intellectual Disability Malformations of Cortical Development Malformations of Cortical Development, Group III Mental Disorders Nervous System Diseases Nervous System Malformations Neurobehavioral Manifestations Neurodevelopmental Disorders Neurologic Manifestations Pathological Conditions, Anatomical Pathological Conditions, Signs and Symptoms Polymicrogyria Signs and Symptoms

Sex eligibility

All sexes

Study type

Observational

Primary location

University of California, San francisco

San Francisco, California, 94143, United States

Location status: Recruiting

Location contact

Anne Slavotinek, MD

SUB_INVESTIGATOR

Elysa Marco, MD

SUB_INVESTIGATOR

Rita J Jeremy, PhD

SUB_INVESTIGATOR

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

Clinical diagnosis of agenesis or dysgenesis of the corpus callosum, polymicrogyria, or Dandy-Walker malformation
Should be confirmed by an MRI (Magnetic Resonance Imaging) of the brain

Exclusion criteria

Fully formed but hypoplastic corpus callosum

Study contacts

Contact information is provided by the study sponsor or research team.

Carolyn Le, BA, BS

CONTACT

[email protected]

415-502-8039

Sponsors and collaborators

Lead sponsor

University of California, San Francisco

Other

Collaborators

California Institute of Technology
University of Washington

Registry information

Official study title

Disorders of Cerebral Development: A Phenotypic and Genetic Analysis

Important dates

Study start: 2003
Primary completion: 2027
Study completion: 2027
First posted: Mar 21, 2006
Registry last updated: Aug 17, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Recruiting