An observational study in Brain Malformation, Neuronal Migration Disorder and Cognition Disorder, sponsored by Harvard University Faculty of Medicine. Recruiting at 1 site in United States. Per ClinicalTrials.gov, last updated 2023-09-21.
Sponsored by Harvard University Faculty of Medicine · Observational
The purpose of this study is to identify genes responsible for epilepsy, brain malformations and disorders of human cognition.
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.
1,806 studies on the registry are indexed under Epilepsy; 418 are open to participants now.
This study's planned enrollment of 3,500 is above the median of 102 across 521 observational studies indexed under Epilepsy.
Browse Epilepsy studies →Harvard University Faculty of Medicine is the lead sponsor of 15 studies on the registry; 2 are open to participants now.
Counted across the registry records on this site, refreshed daily.
Participants will be selected through collaborations with clinicians.
EXCLUSION:
Identification and characterization of genes important in normal brain development and associated with brain malformations.
Genetic variants associated with disorder of brain development
Time frame: Ongoing
Eligibility is decided by the study team. Share this record with your doctor or contact the team directly.
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Harvard University Faculty of Medicine