Actively Recruiting
Human Epilepsy Genetics--Neuronal Migration Disorders Study
Led by Harvard University Faculty of Medicine · Updated on 2023-09-21
3500
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
Sponsors
H
Harvard University Faculty of Medicine
Lead Sponsor
N
National Institute of Neurological Disorders and Stroke (NINDS)
Collaborating Sponsor
AI-Summary
What this Trial Is About
Researchers are investigating genes responsible for epilepsy, brain malformations, and disorders affecting human cognition. This study aims to identify genetic factors involved in conditions such as polymicrogyria, lissencephaly, pachygyria, heterotopias, microcephaly, cerebellar hypoplasia, familial intellectual disability, and familial autism. These conditions often coexist with epilepsy and are diagnosed using brain MRI or CT scans. The study focuses on understanding the genetic basis of these disorders by comparing DNA from affected individuals and families to that of the general population. Participants include adults and children diagnosed with brain malformations or cognitive disorders such as familial intellectual disability or autism. Family members of affected individuals are also invited to participate. This observational study collects genetic data to help identify and characterize genes important in normal brain development and related abnormalities. There are no experimental treatments or interventions involved. During the study, participants provide genetic samples and share medical information related to their condition. Researchers analyze these samples to discover genetic links to the studied conditions. The primary outcome is the ongoing identification and characterization of genes linked to brain development and malformations. Participants remain under their usual care throughout the study, which may continue for several years as the research progresses.
CONDITIONS
Brief Title
Human Epilepsy Genetics--Neuronal Migration Disorders Study
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Males and females of any age
- Persons with a brain malformation or disorder of cognition such as familial intellectual disability or autism
You will not qualify if you...
- Persons without a brain malformation or disorder of cognition such as familial intellectual disability or autism
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
Duration - Varies per participant
Participants undergo brain imaging and cognitive assessments to confirm brain malformations or disorders of cognition.
1 to 2 visits depending on assessments required
Duration - Up to several years
Participants provide DNA samples and medical history for genetic analysis and ongoing research.
Periodic visits as scheduled for sample collection and assessments
Trial Site Locations
Total: 1 location
1
Boston Children's Hospital, Walsh Laboratory
Boston, Massachusetts, United States, 02115
Actively Recruiting
Research Team
J
Jennifer Neil, MS
A
Abbe Lai, MS
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
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