Research on genetic causes of brain development disorders
Disorders of Cerebral Development: A Phenotypic and Genetic Analysis
This study is trying to find out how genes affect brain development disorders like Aicardi syndrome and Dandy-Walker malformation by looking at MRI scans and samples from affected people and their families.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 2000 (estimated) |
| Sex | All |
| Sponsor | University of California, San Francisco Academic / other |
| Locations | 1 site (San Francisco, California) |
| Trial ID | NCT00305305 on ClinicalTrials.gov |
What this trial studies
This research program at the University of California, San Francisco focuses on understanding the genetic factors contributing to brain disorders, particularly those affecting the corpus callosum, such as Aicardi syndrome, polymicrogyria, and Dandy-Walker malformation. The study involves collecting MRI scans, clinical information, and biological samples from affected individuals and their parents to explore the clinical features and underlying genetic causes of these conditions. The ultimate goal is to develop targeted therapies based on the biological insights gained from this research.
Who should consider this trial
Good fit: Ideal candidates include individuals diagnosed with agenesis or dysgenesis of the corpus callosum, polymicrogyria, or Dandy-Walker malformation confirmed by MRI.
Not a fit: Patients with a fully formed but hypoplastic corpus callosum may not benefit from this study.
Why it matters
Potential benefit: If successful, this research could lead to improved treatments tailored to the specific genetic causes of brain disorders.
How similar studies have performed: Other studies have shown promise in understanding genetic causes of brain malformations, making this approach both relevant and potentially impactful.
Eligibility criteria
Show full inclusion / exclusion criteria
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
Where this trial is running
San Francisco, California
- University of California, San francisco — San Francisco, California, United States (Recruiting)
Study contacts
- Principal investigator: Elliott H Sherr, MD, PhD — University of California, San Francisco
- Study coordinator: Carolyn Le, BA, BS
- Email: Carolyn.Le@ucsf.edu
- Phone: 415-502-8039
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.