Genetics of Epilepsy and Related Disorders
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeNot listed
SponsorBoston Children's Hospital
About this trial
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.
Eligibility criteria
This trial does not accept healthy volunteersQualifiers
None
Disqualifiers
None
Trial population
Individuals with epilepsy. Age and epilepsy type variable.
Trial design
Design model
Cohort
Time perspective
Cross-sectional
Treatments tested in this trial
Exome and/or whole genome sequencing
Genetic
Treatment groups
5,000 Participants
are divided into 1 treatment groupGroup A: BCH Children's Rare Disease Cohort (CRDC)1 intervention
Trial outcomes
Primary outcomes
1
Identify new or existing pathogenic variants through exome and/or whole genome sequencing of individuals with epilepsy.
Use exome and/or whole genome sequencing to identify genetic variants. Detailed clinical information will be collected via medical records and patient questionnaire, as well as biological parents' exome sequencing to classify variants per ACMG guidelines.
Time frame
10 yearsSponsors and contacts
Click on the lead sponsor to view all of their trials.
Source ClinicalTrials.gov