Clinical trial NCT00041600: Human Epilepsy Genetics--Neuronal Migration Disorders Study
Official title: Human Epilepsy Genetics--Neuronal Migration Disorders Study
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Brain Malformation
Neuronal Migration Disorder
Cognition Disorder
Epilepsy
Keywords: epilepsy
seizures
disorders of human cognition
neuronal migration
neuronal migration disorders
lissencephaly
schizencephaly
polymicrogyria
heterotopia
microcephaly
pachygyria
Lead sponsor: Harvard University Faculty of Medicine
Sponsor class: OTHER
Collaborators: name: National Institute of Neurological Disorders and Stroke (NINDS)
name: Howard Hughes Medical Institute
First posted: 2002-07-12
Enrollment: 3500
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: FAMILY_BASED
Time perspective: OTHER
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Participants will be selected through collaborations with clinicians.

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 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.

Eligibility criteria: 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).

Primary outcomes:
measure: Identification and characterization of genes important in normal brain development and associated with brain malformations.
timeFrame: Ongoing
Secondary outcomes:
Other outcomes:
Locations:
city: Boston
country: United States
facility: Boston Children's Hospital, Walsh Laboratory
state: Massachusetts
Study officials:
affiliation: Harvard Institutes of Medicine
name: Christopher A. Walsh, M.D., Ph.D.
role: PRINCIPAL_INVESTIGATOR
References: