Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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RECRUITING
5000 participants
OBSERVATIONAL
2010-11-30
2030-12-31
Brief Summary
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Detailed Description
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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.
Conditions
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Study Design
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COHORT
CROSS_SECTIONAL
Study Groups
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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.
Exome and/or whole genome sequencing
Interventions
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Exome and/or whole genome sequencing
Eligibility Criteria
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Inclusion Criteria
ALL
No
Sponsors
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Boston Children's Hospital
OTHER
Responsible Party
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Alissa D'Gama
Assistant Professor of Pediatrics
Principal Investigators
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Alissa D'Gama, MD, PhD
Role: PRINCIPAL_INVESTIGATOR
Boston Children's Hospital
Locations
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Boston Children's Hospital
Boston, Massachusetts, United States
Countries
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Central Contacts
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Facility Contacts
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Lacey Smith, MS, CGC
Role: backup
Related Links
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Epilepsy Genetics Program at Boston Children's Hospital website
Other Identifiers
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X10-04-0197
Identifier Type: -
Identifier Source: org_study_id
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