Research on genetic causes of brain development disorders
Official title: Disorders of Cerebral Development: A Phenotypic and Genetic Analysis
Run by University of California, San Francisco · NCT00305305 · Data updated 2026-11-12
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 |
|---|---|
| Sex | All |
| Enrollment | 2000 (estimated) |
| Sponsor | University of California, San Francisco Academic / other |
| Locations | 1 site (San Francisco, California) |
| Status | Recruiting |
| Started | August 2003 |
| Main results expected | January 2027 |
| Study ends | January 2027 |
| Registry record updated | August 17, 2026 |
| Trial ID | NCT00305305 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates include individuals diagnosed with agenesis or dysgenesis of the corpus callosum, polymicrogyria, or Dandy-Walker malformation confirmed by MRI.
✕Probably not a fit
Patients with a fully formed but hypoplastic corpus callosum may not benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
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.
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 gone: Other studies have shown promise in understanding genetic causes of brain malformations, making this approach both relevant and potentially impactful.
Who can join: the full rules
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 it's running
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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
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.