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Summary

at San Francisco, California
study started
estimated completion:

Description

Summary

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.

Official Title

Disorders of Cerebral Development: A Phenotypic and Genetic Analysis

Details

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 blood samples from the affected individual and from the parents. Please see contact information and our webpage below.

Keywords

Brain Disorders Aicardi Syndrome Agenesis Corpus Callosum Polymicrogyria Dandy-Walker Brain Malformation Autism Epilepsy Mental Retardation MRI Agenesis of the Corpus Callosum (complete or partial) Confirmed by a brain MRI. Aicardi Syndrome. Brain Diseases

Eligibility

You can join if…

  • 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

You CAN'T join if...

  • Fully formed but hypoplastic corpus callosum

Location

  • University of California, San francisco accepting new patients
    San Francisco, California, 94143, United States

Details

Status
accepting new patients
Start Date
Completion Date
(estimated)
Sponsor
University of California, San Francisco
Links
National Organization of the Disorders of the Corpus Callosum (a non-profit corporation)
ID
NCT00305305
Lead Scientists
Elliott H Sherr
James Barkovich
Pratik Mukherjee
Study Type
Observational
Last Updated
January 9, 2017
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