Brain MalformationNCT00041600
Human Epilepsy Genetics--Neuronal Migration Disorders Study
An observational study of Brain Malformation and Neuronal Migration Disorder, run by Harvard University Faculty of Medicine at 1 site in United States.
Trial summary
The purpose of this study is to identify genes responsible for epilepsy, brain malformations and disorders of human cognition. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Brain Malformation, Neuronal Migration Disorder, Cognition Disorder
- How many people
- 3,500 participants
- Where
- 1 siteUnited States
- Study dates
- Apr 1996to Jun 2030
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Participants will be selected through collaborations with clinicians.
Who may be able to join
- 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).
Who cannot join
- Persons without a brain malformation or disorder of cognition (familial intellectual disability (previously known as mental retardation] or autism).
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Abbe Lai, MS contact
United States1 site, 1 recruiting
- Recruiting
Boston Children's Hospital, Walsh Laboratory
Boston, Massachusetts, 02115
Jennifer Neil, MS, 617-919-2865, walshresearch@childrens.harvard.edu
Abbe Lai, MS, 617-919-4371
About this study
The purpose of this study is to identify genes responsible for epilepsy, brain malformations and disorders of human cognition.
Read the 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.
- Keywords
- epilepsy, seizures, disorders of human cognition, neuronal migration, neuronal migration disorders, lissencephaly, schizencephaly, polymicrogyria, heterotopia, microcephaly, pachygyria
- Medical subject headings
- Malformations of Cortical Development, Group II, Cognition Disorders, Epilepsy, Seizures, Lissencephaly, Schizencephaly, Polymicrogyria, Choristoma
What is being measured
The primary outcome is the main question the study is designed to answer.
Identification and characterization of genes important in normal brain development and associated with brain malformations.
Genetic variants associated with disorder of brain development
Measured: Ongoing
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted12 Jul 2002 (estimated)
- Study startApr 1996
- Primary completionJun 2030 (estimated)
- Study completionJun 2030 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Brain MalformationStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Family based
- Time perspective
- Other
- Enrolment
- 3,500 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Harvard University Faculty of Medicine
- Sponsor type
- University, hospital or other
- Collaborators
- National Institute of Neurological Disorders and Stroke (NINDS), Howard Hughes Medical Institute
- Responsible party
- Principal investigator, Dr. Chris Walsh, Harvard University Faculty of Medicine
- Investigators
- Christopher A. Walsh, M.D., Ph.D., Principal investigator, Harvard Institutes of Medicine
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00041600
- Sponsor's protocol ID
- R01NS035129
- Status last verified
- Sep 2023
- First submitted
- 11 Jul 2002
- Last updated
- 21 Sep 2023
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 21 Sep 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Human Epilepsy Genetics--Neuronal Migration Disorders Study
- ClinicalTrials.gov ID
- NCT00041600
- Acronym / sponsor ID
- R01NS035129
- Keywords
- epilepsy, seizures, disorders of human cognition, neuronal migration, neuronal migration disorders, lissencephaly, schizencephaly, polymicrogyria
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 3,500 participants (estimated)
- Lead sponsor
- Harvard University Faculty of MedicineUniversity, hospital or other
- Collaborators
- National Institute of Neurological Disorders and Stroke (NINDS), Howard Hughes Medical Institute
- Study start
- Apr 1996
- Primary completion
- Jun 2030 (estimated)
- Study completion
- Jun 2030 (estimated)
- First posted
- 12 Jul 2002 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Family based
- Time perspective
- Other
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Participants will be selected through collaborations with clinicians.
Key inclusion criteria (2 listed)
- 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).
Key exclusion criteria (1 listed)
- Persons without a brain malformation or disorder of cognition (familial intellectual disability (previously known as mental retardation] or autism).
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Identification and characterization of genes important in normal brain development and associated with brain malformations.
Time frame: Ongoing
Genetic variants associated with disorder of brain development
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 21 Sep 2023.
- laboratory websiteLink provided by the sponsor.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Abbe Lai, MS contact
Christopher A. Walsh, M.D., Ph.D. principal investigator
Harvard Institutes of Medicine
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Brain Malformation and Neuronal Migration Disorder, run by Harvard University Faculty of Medicine at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 21 Sep 2023. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Jennifer Neil, MS (617-919-2865, walshresearch@childrens.harvard.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Identification and characterization of genes important in normal brain development and associated with brain malformations. (time frame: Ongoing). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 21 Sep 2023.