Ignite Creation Date:
2024-05-05 @ 11:26 AM
Last Modification Date:
2024-10-26 @ 9:07 AM
Study NCT ID:
NCT00041600
Status:
RECRUITING
Last Update Posted:
2023-09-21
First Post:
2002-07-11
Brief Title:
Human Epilepsy Genetics--Neuronal Migration Disorders Study
Sponsor:
Harvard University Faculty of Medicine
Organization:
Harvard University Faculty of Medicine
Study Overview
Official Title:
Human Epilepsy Genetics--Neuronal Migration Disorders Study
Status:
RECRUITING
Status Verified Date:
2023-09
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
The purpose of this study is to identify genes responsible for epilepsy brain malformations and disorders of human cognition
Detailed Description:
Epilepsy is responsible for tremendous long-term healthcare costs Analysis of inherited epilepsy conditions has allowed for identification of several key genes active in the developing brain Although many genetic abnormalities of the brain are rare and lethal rapidly advancing knowledge of the structure of the human genome makes it a realistic goal to identify genes responsible for other epileptic conditions related brain malformations and disorders of cognition
The purpose of this study is to identify genes responsible for epilepsy and disorders of human cognition EDHC The Walsh Laboratory at Boston Childrens Hospital is looking for genes involved in brain development Conditions that we study include brain malformations such as polymicrogyria lissencephaly pachygyria heterotopias microcephaly and cerebellar hypoplasia and inherited disorders of cognition such as familial intellectual disability and familial autism People with these conditions also often have epilepsy The structural brain abnormalities are usually diagnosed by brain MRI or sometimes CT scans Adults and children with these conditions and their family members are invited to participate in our study By comparing the DNA of individuals or families that carry EDHC to the DNA of people in the general population it may be possible to learn more about the genetic bases of certain forms of EDHC
Study participants must have a brain malformation or disorder of cognition such as familial intellectual disability or autism in order to take part in this research
The purpose of this study is to identify genes responsible for epilepsy and disorders of human cognition EDHC The Walsh Laboratory at Boston Childrens Hospital is looking for genes involved in brain development Conditions that we study include brain malformations such as polymicrogyria lissencephaly pachygyria heterotopias microcephaly and cerebellar hypoplasia and inherited disorders of cognition such as familial intellectual disability and familial autism People with these conditions also often have epilepsy The structural brain abnormalities are usually diagnosed by brain MRI or sometimes CT scans Adults and children with these conditions and their family members are invited to participate in our study By comparing the DNA of individuals or families that carry EDHC to the DNA of people in the general population it may be possible to learn more about the genetic bases of certain forms of EDHC
Study participants must have a brain malformation or disorder of cognition such as familial intellectual disability or autism in order to take part in this research
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None