Understanding the genetics behind epilepsy and related disorders
Official title: Genetics of Epilepsy and Related Disorders
Run by Boston Children's Hospital · NCT01858285 · Data updated 2026-11-12
This study is trying to find out how genes affect epilepsy and similar disorders in kids to help improve their diagnosis and treatment.
Quick facts
| Study type | Observational |
|---|---|
| Sex | All |
| Enrollment | 5000 (estimated) |
| Sponsor | Boston Children's Hospital Academic / other |
| Locations | 1 site (Boston, Massachusetts) |
| Status | Recruiting |
| Started | November 2010 |
| Main results expected | December 2030 |
| Study ends | December 2030 |
| Registry record updated | January 9, 2026 |
| Trial ID | NCT01858285 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates include individuals diagnosed with epilepsy, particularly those with seizure onset before 12 months of age.
✕Probably not a fit
Patients with an existing genetic diagnosis or known cause for their epilepsy 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 observational study at Boston Children's Hospital aims to explore the genetic factors contributing to epilepsy and related disorders, including conditions like Ohtahara Syndrome and Dravet Syndrome. The research focuses on identifying DNA variants that may cause these conditions and correlating these genetic findings with the clinical characteristics of epilepsy. By utilizing exome and whole genome sequencing, the study seeks to enhance diagnosis and treatment options for patients with epilepsy, particularly those with severe forms that begin in early childhood.
Why it matters
Potential benefit: If successful, this study could lead to improved diagnosis and treatment strategies for patients with epilepsy and related disorders.
How similar studies have gone: Other studies have shown promise in identifying genetic factors in epilepsy, making this approach both relevant and potentially impactful.
Who can join: the full rules
Show full inclusion / exclusion criteria
inclusion: diagnosis of epilepsy, patient at Boston Children's Hospital exclusion: existing genetic diagnosis or known cause for epilepsy, structural malformation of the brain, not seen at Boston Children's Hospital
Where it's running
-
Boston Children's Hospital
Boston, Massachusetts, United States Recruiting
Study contacts
- Principal investigator: Alissa D'Gama, MD, PhD — Boston Children's Hospital
- Study coordinator: Lacey Smith, MS, CGC
- Email: lacey.smith@childrens.harvard.edu
- Phone: 857-218-3239
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
This early study tests RAP-219-LAI in healthy adults to see how it behaves in the body and whether it is safe and tolerable.
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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.