Brain Development Research Program

University of California San Francisco (UCSF)

Status: Enrolling

Conditions: Aicardi Syndrome; Brain Disorders

Study type: Observational

Funder types: Other

Identifiers

NCT00305305

UCSF-PCRC #2206

Details and patient eligibility

About

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.

Full description

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.

Enrollment: 2,000 estimated patients

Sex: All

Volunteers: No Healthy Volunteers

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