Identifying genes linked to epilepsy and brain disorders
Human Epilepsy Genetics--Neuronal Migration Disorders Study
Harvard University Faculty of Medicine · NCT00041600
This study is trying to find out which genes are linked to epilepsy and brain disorders by looking at DNA from people with these conditions and their families.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 3500 (estimated) |
| Sex | All |
| Sponsor | Harvard University Faculty of Medicine (other) |
| Locations | 1 site (Boston, Massachusetts) |
| Trial ID | NCT00041600 on ClinicalTrials.gov |
What this trial studies
This observational study aims to identify the genetic factors associated with epilepsy, brain malformations, and cognitive disorders. Conducted by the Walsh Laboratory at Boston Children's Hospital, the research focuses on analyzing DNA from individuals with specific brain conditions and their families. By comparing this genetic information to that of the general population, the study seeks to uncover the underlying genetic causes of these disorders, which may lead to better understanding and treatment options.
Who should consider this trial
Good fit: Ideal candidates include individuals of any age with a diagnosed brain malformation or cognitive disorder, such as familial intellectual disability or autism.
Not a fit: Patients without a brain malformation or cognitive disorder will not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved diagnosis and treatment strategies for patients with epilepsy and related cognitive disorders.
How similar studies have performed: Other studies have shown success in identifying genetic factors related to epilepsy and brain disorders, making this approach promising.
Eligibility criteria
Show full inclusion / exclusion criteria
INCLUSION: * Males and females of any age. * Persons with a brain malformation or disorder of cognition (familial intellectual disability \[previously known as mental retardation\] or autism). EXCLUSION: * Persons without a brain malformation or disorder of cognition (familial intellectual disability (previously known as mental retardation\] or autism).
Where this trial is running
Boston, Massachusetts
- Boston Children's Hospital, Walsh Laboratory — Boston, Massachusetts, United States (RECRUITING)
Study contacts
- Principal investigator: Christopher A. Walsh, M.D., Ph.D. — Harvard Institutes of Medicine
- Study coordinator: Jennifer Neil, MS
- Email: walshresearch@childrens.harvard.edu
- Phone: 617-919-2865
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.
Conditions: Brain Malformation, Neuronal Migration Disorder, Cognition Disorder, Epilepsy, epilepsy, seizures, disorders of human cognition, neuronal migration