Understanding the genetics behind epilepsy and related disorders
Genetics of Epilepsy and Related Disorders
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 |
|---|---|
| Enrollment | 5000 (estimated) |
| Sex | All |
| Sponsor | Boston Children's Hospital Academic / other |
| Locations | 1 site (Boston, Massachusetts) |
| Trial ID | NCT01858285 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates include individuals diagnosed with epilepsy, particularly those with seizure onset before 12 months of age.
Not a fit: Patients with an existing genetic diagnosis or known cause for their epilepsy may 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 disorders.
How similar studies have performed: Other studies have shown promise in identifying genetic factors in epilepsy, making this approach both relevant and potentially impactful.
Eligibility criteria
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 this trial is running
Boston, Massachusetts
- 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
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.