Summary

Location
at San Francisco, California
Dates
study started
completion around
Principal Investigator
by Elliott H Sherr, MD, PhDJames Barkovich, MDPratik Mukherjee, MD, PhD
Headshot of Elliott H Sherr
Elliott H Sherr
Headshot of James Barkovich
James Barkovich

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 saliva or 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

  • UCSF accepting new patients
    San Francisco California 94143 United States

Lead Scientists at UCSF

  • Elliott H Sherr, MD, PhD
    Dr. Elliott H. Sherr is a pediatric neurologist dedicated to caring for children with neurological disorders and to finding the causes and best treatments for these diseases. He has a focus on treating children with MRI-visible disorders of brain development – patients who frequently have epilepsy, developmental delay and autism.
  • James Barkovich, MD
    A. James Barkovich, MD, is a Professor Emeritus in the Department of Radiology at the University of California, San Francisco. Dr. Barkovich received his medical degree from George Washington University, Washington, D.C., and completed his residency in Radiology from Letterman AMC, San Francisco in 1984, followed by a fellowship in Neuroradiology from Walter Reed AMC in 1986.
  • Pratik Mukherjee, MD, PhD

Details

Status
accepting new patients
Start Date
Completion Date
(estimated)
Sponsor
University of California, San Francisco
Links
more information about this study: Agenesis of the Corpus Callosum, Genetics and Clinical features National Organization of the Disorders of the Corpus Callosum (a non-profit corporation)
ID
NCT00305305
Study Type
Observational
Participants
Expecting 2000 study participants
Last Updated