Clinical trial NCT01858285: Genetics of Epilepsy and Related Disorders
Official title: Genetics of Epilepsy and Related Disorders
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Epilepsy
Epileptic Encephalopathy
Ohtahara Syndrome
Infantile Spasms
Dravet Syndrome
Early Myoclonic Epileptic Encephalopathy
PCDH19-related Epilepsy and Related Conditions
KCNQ2-Related Epileptic Encephalopathy
Epilepsy of Infancy With Migrating Focal Seizures (Disorder)
Keywords: Epilepsy
Ohtahara
Dravet
EIEE
Genetic
Lead sponsor: Boston Children's Hospital
Sponsor class: OTHER
First posted: 2013-05-21
Enrollment: 5000
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: CROSS_SECTIONAL
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Individuals with epilepsy. Age and epilepsy type variable. See above for specific cohorts.

Brief summary: Investigators at Boston Children's Hospital are conducting research in order to better understand the genetic factors which may contribute to epilepsy and related disorders. These findings may help explain the broad spectrum of clinical characteristics and outcomes seen in people with epilepsy.

Detailed description: Many individuals with epilepsy experience seizures which respond well to treatment. Some types of epilepsy, however, are characterized by seizures which begin very early in childhood and are associated with severe intellectual and/or developmental disabilities. These conditions are often difficult to treat.

The investigators' research effort is focused on identifying genetic changes (known as "DNA variants") that cause epilepsy. By doing so the investigators hope to improve diagnosis and treatment for this epilepsy.

We have two specific aims:

1. Identifying genetic findings in patients with epilepsy and related disorders.
2. Correlating genetic findings with epilepsy phenotypes.

Eligibility criteria: For Gene-STEPS:

inclusion: seizure onset at less than 12 months of age, must be enrolled within 6 weeks of first seizure-related presentation to BCH exclusion: simple febrile seizures, provoked seizures, genetic or acquired cause already identified, MRI findings consistent with specific genetic etiology

For BCH CRDC:

inclusion: diagnosis of epilepsy, patient at BCH exclusion: existing genetic diagnosis or known cause for epilepsy, structural malformation of the brain

For Core cohort:

inclusion: diagnosis of epilepsy exclusion: existing genetic diagnosis or known cause for epilepsy, structural malformation of the brain

For Phenotyping cohort:

inclusion: diagnosis of a genetic epilepsy exclusion: no genetic diagnosis or diagnosis of other genetic condition that does not include epilepsy phenotype

Primary outcomes:
measure: Identify new or existing pathogenic variants through exome and/or whole genome sequencing of individuals with epilepsy.
timeFrame: 10 years
Secondary outcomes:
Other outcomes:
Locations:
city: Boston
country: United States
facility: Boston Children's Hospital
state: Massachusetts
Study officials:
affiliation: Boston Children's Hospital
name: Alissa D'Gama, MD, PhD
role: PRINCIPAL_INVESTIGATOR
affiliation: Boston Children's Hospital
name: Heather Olson, MD
role: PRINCIPAL_INVESTIGATOR
References: