Brain Development Research Program
| Status: | Recruiting |
|---|---|
| Conditions: | Neurology |
| Therapuetic Areas: | Neurology |
| Healthy: | No |
| Age Range: | Any |
| Updated: | 12/9/2018 |
| Start Date: | August 2003 |
| End Date: | January 2020 |
| Contact: | Veronica de Santiago, BS |
| Email: | Veronica.deSantiago@ucsf.edu |
| Phone: | 415-502-8039 |
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.
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 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.
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.
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
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