Human Epilepsy Genetics--Neuronal Migration Disorders Study

Epilepsy Clinical Trial

Official title:

Human Epilepsy Genetics--Neuronal Migration Disorders Study

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT00041600
• Other study ID #: R01NS035129
• Status: Recruiting
• Start date: April 1996
• Est. completion date: June 2030

Study information

• Verified date: September 2023
• Source: Harvard University Faculty of Medicine
• Contact: Jennifer Neil, MS
• Phone: 617-919-2865
• Email: walshresearch[@]childrens.harvard.edu
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

The purpose of this study is to identify genes responsible for epilepsy, brain malformations and disorders of human cognition.

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 Children's 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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 3500
• Est. completion date: June 2030
• Est. primary completion date: June 2030
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

INCLUSION:

• Males and females of any age.

• Persons with a brain malformation or disorder of cognition (familial intellectual disability [previously known as mental retardation] or autism).

EXCLUSION:

• Persons without a brain malformation or disorder of cognition (familial intellectual disability (previously known as mental retardation] or autism).

Related Conditions & MeSH terms

• Brain Malformation
• Cognition Disorder
• Cognition Disorders
• Epilepsy

Locations

Country	Name	City	State
United States	Boston Children's Hospital, Walsh Laboratory	Boston	Massachusetts

Sponsors (3)

Lead Sponsor	Collaborator
Harvard University Faculty of Medicine	Howard Hughes Medical Institute, National Institute of Neurological Disorders and Stroke (NINDS)

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Identification and characterization of genes important in normal brain development and associated with brain malformations.	Genetic variants associated with disorder of brain development	Ongoing

External Links

•   laboratory website