Viewing Study NCT00305305


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Study NCT ID: NCT00305305
Status: UNKNOWN
Last Update Posted: 2023-10-10
First Post: 2006-03-17
Is NOT Gene Therapy: False
Has Adverse Events: False

Brief Title: Brain Development Research Program
Sponsor: University of California, San Francisco
Organization:

Study Overview

Official Title: Disorders of Cerebral Development: A Phenotypic and Genetic Analysis
Status: UNKNOWN
Status Verified Date: 2023-10
Last Known Status: RECRUITING
Delayed Posting: No
If Stopped, Why?: Not Stopped
Has Expanded Access: False
If Expanded Access, NCT#: N/A
Has Expanded Access, NCT# Status: N/A
Acronym: None
Brief 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.
Detailed 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.

Study Oversight

Has Oversight DMC:
Is a FDA Regulated Drug?:
Is a FDA Regulated Device?:
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Is a PPSD?:
Is a US Export?:
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