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Brain Development Research Program

This study is currently recruiting participants. (see Contacts and Locations)
Verified May 2013 by University of California, San Francisco
Sponsor:
Collaborators:
University of Washington
California Institute of Technology
Information provided by (Responsible Party):
University of California, San Francisco
ClinicalTrials.gov Identifier:
NCT00305305
First received: March 17, 2006
Last updated: May 16, 2013
Last verified: May 2013

March 17, 2006
May 16, 2013
August 2003
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Complete list of historical versions of study NCT00305305 on ClinicalTrials.gov Archive Site
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Brain Development Research Program
Disorders of Cerebral Development: A Phenotypic and Genetic Analysis

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 ACC, PMG, or DWM, clinical information, and blood samples from the affected individual and from the parents. Please see contact information and our webpage below.

Observational
Observational Model: Cohort
Time Perspective: Prospective
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Non-Probability Sample

Individuals with agenesis or dysgenesis of the corpus callosum, polymicrogyria, or cerebellar hypoplasia.

  • Brain Disorders
  • Aicardi Syndrome
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*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruiting
2000
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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
Both
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No
Contact: Brieana M Fregeau, BA 415-502-8039 FregeauB@neurology.ucsf.edu
Contact: Polina Bukshpun, BA 415-502-8039 bukshpunp@neuropeds.ucsf.edu
United States
 
NCT00305305
UCSF-PCRC #2206
Not Provided
University of California, San Francisco
University of California, San Francisco
  • University of Washington
  • California Institute of Technology
Principal Investigator: Elliott H Sherr, MD, PhD University of California, San Francisco
Principal Investigator: James Barkovich, MD University of California, San Francisco
Principal Investigator: Pratik Mukherjee, MD, PhD University of California, San Francisco
University of California, San Francisco
May 2013

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP