Human Epilepsy Genetics--Neuronal Migration Disorders Study

NCT00041600 | Recruiting

• 1 other identifier: R01NS035129
• Study Type: observational
• Target: 3,500
• Locations: 1 country
• Sites: 1

Brief Summary

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

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

Outcome Measures

Primary Outcomes (1)

• Identification and characterization of genes important in normal brain development and associated with brain malformations.

  Genetic variants associated with disorder of brain development

  Ongoing

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Participants will be selected through collaborations with clinicians.

You may qualify if:

• 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).

You may not qualify if:

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

Sponsors & Collaborators

• Harvard University Faculty of Medicine: lead
• National Institute of Neurological Disorders and Stroke (NINDS): collaborator
• Howard Hughes Medical Institute: collaborator

Study Sites (1)

Boston Children's Hospital, Walsh Laboratory

Boston, Massachusetts, 02115, United States

RECRUITING

Related Links

• laboratory website

Biospecimen

Retention: SAMPLES WITH DNA

whole blood, DNA

MeSH Terms

Conditions

Malformations of Cortical Development, Group II; Cognition Disorders; Epilepsy; Seizures; Lissencephaly; Schizencephaly; Polymicrogyria; Choristoma; Microcephaly

Condition Hierarchy (Ancestors)

Malformations of Cortical Development; Nervous System Malformations; Nervous System Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neurocognitive Disorders; Mental Disorders; Brain Diseases; Central Nervous System Diseases; Neurologic Manifestations; Signs and Symptoms; Pathological Conditions, Signs and Symptoms; Malformations of Cortical Development, Group III; Pathological Conditions, Anatomical; Craniofacial Abnormalities; Musculoskeletal Abnormalities; Musculoskeletal Diseases; Malformations of Cortical Development, Group I

Study Officials

• Christopher A. Walsh, M.D., Ph.D.

  Harvard Institutes of Medicine

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Jennifer Neil, MS

CONTACT

617-919-2865; walshresearch@childrens.harvard.edu

Abbe Lai, MS

CONTACT

617-919-4371

Study Design

• Study Type: observational
• Observational Model: FAMILY BASED
• Time Perspective: OTHER
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Investigator

Study Record Dates

• First Submitted: July 11, 2002
• First Posted: July 12, 2002
• Study Start: April 1, 1996
• Primary Completion (Estimated): June 1, 2030
• Study Completion (Estimated): June 1, 2030
• Last Updated: September 21, 2023

Record last verified: 2023-09

Locations

US (1)