Identifying genes linked to epilepsy and brain disorders
Official title: Human Epilepsy Genetics--Neuronal Migration Disorders Study
Run by Harvard University Faculty of Medicine · NCT00041600 · Data updated 2026-11-12
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 |
|---|---|
| Sex | All |
| Enrollment | 3500 (estimated) |
| Sponsor | Harvard University Faculty of Medicine Academic / other |
| Locations | 1 site (Boston, Massachusetts) |
| Status | Recruiting |
| Started | April 1996 |
| Main results expected | June 2030 |
| Study ends | June 2030 |
| Registry record updated | September 21, 2023 |
| Trial ID | NCT00041600 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates include individuals of any age with a diagnosed brain malformation or cognitive disorder, such as familial intellectual disability or autism.
✕Probably not a fit
Patients without a brain malformation or cognitive disorder will 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 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.
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 gone: Other studies have shown success in identifying genetic factors related to epilepsy and brain disorders, making this approach promising.
Who can join: the full rules
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 it's running
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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
Similar studies
Other studies for the same condition or treatment. Recruiting studies are listed first.
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RAP-219 long-acting injectable safety and PK study in healthy adults
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Why People with Epilepsy Get More Infections
This study tests whether anti-seizure medicines affect immune function and infection risk in people with epilepsy.
-
Long-Term Epilepsy Outcomes in Children After Perinatal Stroke
This study looks at how epilepsy progresses in kids who had a stroke before 28 days old to see how their seizures and syndromes evolve over time.
-
Hypothalamus structure and heart autonomic changes in drug-resistant epilepsy
This study tests whether structural changes in the hypothalamus relate to cardiac autonomic dysfunction in adults with drug-resistant epilepsy.
-
One-day exercise test to see how brain and body react in epilepsy, cognitive disorders, Parkinson's, dementia, and related conditions
A one-day study tests how an acute bout of exercise changes brain function and bodily signals in people with certain neurological conditions compared with healthy individuals.
-
Advanced 7T fMRI for brain function in epilepsy and brain injuries
This study tests ultra-high-field brain scans at 7T to see if they can better map brain function in adults with epilepsy or brain lesions and in healthy volunteers.
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.