Genetics of Epilepsy and Related Disorders

Part of paid clinical trials in Boston, Massachusetts.

Sponsor
Boston Children's Hospital
Study ID
NCT01858285
Status
Recruiting
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Conditions

Eligibility Criteria

Sex
ALL
Age
N/A - N/A
Healthy Volunteers
Not accepted

Interventions

  • Exome and/or whole genome sequencing — GENETIC

Study Details

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.

Key Dates

Start date
Nov 30, 2010
Status verified
Nov 2024
Primary completion
Dec 31, 2030
Completion
Dec 31, 2030

Study Design

Enrollment
5,000 participants (estimated)

Arms

  • Arm: BCH Children's Rare Disease Cohort (CRDC)
    Individuals with epilepsy, onset at any age. Must be followed clinically at Boston Children's Hospital. Research trio-based exome and/or whole genome with CLIA confirmation of diagnostic findings. Exclusions include presence of existing genetic diagnosis or known cause for epilepsy, presence of structural brain malformation.

Primary Outcome Measure

Identify new or existing pathogenic variants through exome and/or whole genome sequencing of individuals with epilepsy. [ Time Frame: 10 years ]

Central Contacts

Locations (1)

FacilityCityStateZIPSite coordinators
Boston Children's HospitalBostonMassachusetts02115
Lacey Smith, MS,CGC
[email protected]
857-218-32395533
Lacey Smith, MS, CGC
617-355-5254
Alissa D'Gama, MD, PhD (PRINCIPAL_INVESTIGATOR)
Heather Olson, MD (PRINCIPAL_INVESTIGATOR)

Find similar trials in Boston, MA

By condition
Epilepsy
By specialty
NeurologyBrain disorders
By research site
Boston Children's Hospital· Boston, MA

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