EpilepsyEPGPNCT00552045
Epilepsy Phenome/Genome Project
An observational study of Epilepsy and Localization-related Epilepsy, run by University of California, San Francisco at 25 sites in 3 countries.
Trial summary
The purpose of this study is to collect detailed information about the characteristics and genetics of a large number of individuals with epilepsy. Read more about this study
- Who is it for?
- Ages 4 weeks to 60 years
- Conditions the study is for
- Epilepsy, Localization-related Epilepsy, Infantile Spasms
- How many people
- 4,150 participants
- Where
- 25 sitesin 3 countries
- Study dates
- Nov 2007to Oct 2018
- Phase
- Observational
- Are there results?
- None posted in the registry
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 4 weeks to 60 years
- All sexes
- No healthy volunteers
- Child, Adult
Study population: EPGP will recruit persons with specific forms of epilepsy.
Who may be able to join
- Current age from 4 weeks to 60 years.
- Clear diagnosis of epilepsy, i.e., a lifetime history of two or more unprovoked seizures.
- Age at first unprovoked seizure younger than 40 years.
- High quality clinical and laboratory data (i.e., neuroimaging, EEG) must be available throughout the patient's history
- All patients with localization-related epilepsy (LRE) or idiopathic generalized epilepsy (IGE) must have a first-degree relative (parent, child, or sibling) with non-symptomatic (idiopathic or cryptogenic) epilepsy who is willing and available to participate.
- All patients with infantile spasms (IS), Lennox-Gastaut syndrome (LGS), or malformations of cortical development (MCD) must have both biological parents available and willing to participate.
Who cannot join
- Clinical and laboratory data do not allow a clear determination of whether the patient has epilepsy, or whether the diagnosis is LRE, IGE, IS, LGS, or MCD.
- Exclusively febrile seizures or other acute symptomatic seizures.
- Identified antecedent cause of epilepsy (i.e., a structural or metabolic insult to the CNS prior to the first unprovoked seizure, such as stroke, brain tumor, severe head trauma, etc., or a progressive neurodegenerative disorder).
- Recognized genetic syndrome (e.g., tuberous sclerosis, neurofibromatosis, Rett's or Angelman's syndromes) or chromosomal abnormality. (e.g., aneuploidies, unbalanced translocations, or chromosomal deletions and duplications detectable by conventional medical karyotyping).
Trial locations and contacts
25 sites in 3 countries.
25 sites in 3 countries
United States23 sites
University of Michigan Medical Center, Department of Neurology, 5021 BSRB, 109 Zina Pitcher Place
Ann Arbor, Michigan, 48109-2200
Johns Hopkins University, Meyer 2-147, 600 North Wolfe Street
Baltimore, Maryland, 21287-0001
University of Alabama at Birmingham, Epilepsy Center, 1719 6th Ave S, CIRC, Ste 312
Birmingham, Alabama, 35294
Children's Hospital Boston, 300 Longwood Ave.
Boston, Massachusetts, 02115
University of Virginia Health System
Charlottesville, Virginia, 22903
Rush Presbyterian St. Luke's Medical Center, 1653 West Congress Parkway
Chicago, Illinois, 60612-3833
Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue
Cincinnati, Ohio, 45229-3026
Cleveland Clinic
Cleveland, Ohio, 44195
The Children's Hospital
Denver, Colorado, 80045
University of Texas Health Science Center at Houston
Houston, Texas, 77030
Mayo Clinic College of Medicine Florida
Jacksonville, Florida, 32224
Vanderbilt University Medical Center
Nashville, Tennessee, 37232
Comprehensive Epilepsy Center, NYU Medical Center, 403 E. 34th Street, 4th Floor
New York, New York, 10016
Gertrude H. Sergievsky Center, Columbia University, 630 West 168th Street, P&S Box 16 (no patient enrollment)
New York, New York, 10032
Children's Hospital of Philadelphia, 34th and Civic Center Blvd., 6th Floor Wood Bldg-Neurology
Philadelphia, Pennsylvania, 19104
Mayo Clinic College of Medicine Arizona
Phoenix, Arizona, 85054
Children's Hospital of Pittsburgh of UPMC
Pittsburgh, Pennsylvania, 15201
Mayo Clinic College of Medicine, 200 First St., SW
Rochester, Minnesota, 55905
University of California, San Francisco, 400 Parnassus, Room 847
San Francisco, California, 94143-0114
Seattle Children's Hospital
Seattle, Washington, 98105
Washington University
St Louis, Missouri, 63110
Albert Einstein College of Medicine, 111 East 210th St.
The Bronx, New York, 10467
Saint Barnabas Medical Center, Institute of Neurology, 101 Old Short Hills Road, 4th Floor, Suite #415
West Orange, New Jersey, 07052
About this study
Official title: Epilepsy Phenome/Genome Project: A Phenotype/Genotype Analysis of Epilepsy
The purpose of this study is to collect detailed information about the characteristics and genetics of a large number of individuals with epilepsy.
Read the detailed description
Epilepsy is one of the most common neurological disorders and is a major public health concern. Approximately 30 percent of people with epilepsy have medically intractable epilepsy, and the medical and social consequences of the disorder are enormous. Treatments developed for epilepsy have largely been experimental rather than based on knowledge of basic mechanisms because the mechanisms are poorly understood.
The Epilepsy Phenome/Genome Project (EPGP) is a large-scale, international, multi-institutional, collaborative research project aimed at advancing the understanding of the genetic basis of the most common forms of epilepsy.
The overall goal of EPGP is to collect detailed, high quality phenotypic (i.e., characteristics of individuals, from the molecular level to the whole person) information on persons with epilepsy and to compare the phenotypic information with genomic information. EPGP will provide a resource that may lead to many discoveries related to the diagnosis and treatment of epilepsy, including the eventual development of new therapies based on a better understanding of causes of the disorder.
- Conditions
- Epilepsy, Localization-related Epilepsy, Infantile Spasms, Lennox-Gastaut Syndrome, Polymicrogyria, Periventricular Heterotopias
- Keywords
- epilepsy, localization-related epilepsy, idiopathic generalized epilepsy, infantile spasms, Lennox-Gastaut syndrome, polymicrogyria, periventricular heterotopias, malformations of cortical development, phenome, genome, genotype, phenotype
- Medical subject headings
- Epilepsy, Epilepsies, Partial, Spasms, Infantile, Lennox Gastaut Syndrome, Polymicrogyria, Periventricular Nodular Heterotopia, Epilepsy, Idiopathic Generalized, Malformations of Cortical Development
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| subject | individuals with epilepsy |
What is being measured
The primary outcome is the main question the study is designed to answer.
EPGP will recruit persons with specific forms of epilepsy. DNA will be isolated from participants' blood and genetic variants associated with common forms of epilepsy will be identified.
Measured: over 4.5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted1 Nov 2007 (estimated)
- Study startNov 2007
- Primary completionDec 2013
- Study completionOct 2018
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for EpilepsyStudies of the same condition, open and under way.
- More trials run by University of California, San FranciscoThe sponsor's other registered studies.
- 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
- Case-control
- Time perspective
- Prospective
- Enrolment
- 4,150 participants (actual)
Sponsor and investigators
- Lead sponsor
- University of California, San Francisco
- Sponsor type
- University, hospital or other
- Collaborators
- National Institute of Neurological Disorders and Stroke (NINDS)
- Responsible party
- Sponsor
- Investigators
- Daniel Lowenstein, MD, Principal investigator, University of California, San Francisco, Department of NeurologyRuben Kuzniecky, MD, Principal investigator, New York University, Comprehensive Epilepsy Center
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00552045
- Sponsor's protocol ID
- 1R01NS053998-01A1
- Other IDs
- CRC, 1R01NS053998
- Acronym
- EPGP
- Status last verified
- Nov 2018
- First submitted
- 30 Oct 2007
- Last updated
- 13 Nov 2018
- Results posted
- No
- Data monitoring committee
- Yes
Publications
Weisenberg JLZ, Fitzgerald RT, Constantino JN, Winawer MR, Thio LL; EPGP Investigators. Familial aggregation of status epilepticus in generalized and focal epilepsies. Neurology. 2020 Oct 13;95(15):e2140-e2149. doi: 10.1212/WNL.0000000000010708. Epub 2020 Sep 11.
PubMed 32917807
Study at a glance
From the registry record, last updated by the sponsor on 13 Nov 2018. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Epilepsy Phenome/Genome Project: A Phenotype/Genotype Analysis of Epilepsy
- ClinicalTrials.gov ID
- NCT00552045
- Acronym / sponsor ID
- EPGP / 1R01NS053998-01A1
- Conditions
- Epilepsy, Localization-related Epilepsy, Infantile Spasms, Lennox-Gastaut Syndrome, Polymicrogyria, Periventricular Heterotopias
- Keywords
- epilepsy, localization-related epilepsy, idiopathic generalized epilepsy, infantile spasms, Lennox-Gastaut syndrome, polymicrogyria, periventricular heterotopias, malformations of cortical development
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 4,150 participants (actual)
- Lead sponsor
- University of California, San FranciscoUniversity, hospital or other
- Collaborators
- National Institute of Neurological Disorders and Stroke (NINDS)
- Study start
- Nov 2007
- Primary completion
- Dec 2013 (actual)
- Study completion
- Oct 2018 (actual)
- First posted
- 1 Nov 2007 (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 collect detailed information about the characteristics and genetics of a large number of individuals with epilepsy.
Detailed description
Epilepsy is one of the most common neurological disorders and is a major public health concern. Approximately 30 percent of people with epilepsy have medically intractable epilepsy, and the medical and social consequences of the disorder are enormous. Treatments developed for epilepsy have largely been experimental rather than based on knowledge of basic mechanisms because the mechanisms are poorly understood.
The Epilepsy Phenome/Genome Project (EPGP) is a large-scale, international, multi-institutional, collaborative research project aimed at advancing the understanding of the genetic basis of the most common forms of epilepsy.
The overall goal of EPGP is to collect detailed, high quality phenotypic (i.e., characteristics of individuals, from the molecular level to the whole person) information on persons with epilepsy and to compare the phenotypic information with genomic information. EPGP will provide a resource that may lead to many discoveries related to the diagnosis and treatment of epilepsy, including the eventual development of new therapies based on a better understanding of causes of the disorder.
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| subject | – | –individuals with epilepsy |
Who may qualify
- Ages
- 4 weeks to 60 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- EPGP will recruit persons with specific forms of epilepsy.
Key inclusion criteria (6 listed)
- Current age from 4 weeks to 60 years.
- Clear diagnosis of epilepsy, i.e., a lifetime history of two or more unprovoked seizures.
- Age at first unprovoked seizure younger than 40 years.
- High quality clinical and laboratory data (i.e., neuroimaging, EEG) must be available throughout the patient's history
- All patients with localization-related epilepsy (LRE) or idiopathic generalized epilepsy (IGE) must have a first-degree relative (parent, child, or sibling) with non-symptomatic (idiopathic or cryptogenic) epilepsy who is willing and available to participate.
Key exclusion criteria (4 listed)
- Clinical and laboratory data do not allow a clear determination of whether the patient has epilepsy, or whether the diagnosis is LRE, IGE, IS, LGS, or MCD.
- Exclusively febrile seizures or other acute symptomatic seizures.
- Identified antecedent cause of epilepsy (i.e., a structural or metabolic insult to the CNS prior to the first unprovoked seizure, such as stroke, brain tumor, severe head trauma, etc., or a progressive neurodegenerative disorder).
- Recognized genetic syndrome (e.g., tuberous sclerosis, neurofibromatosis, Rett's or Angelman's syndromes) or chromosomal abnormality. (e.g., aneuploidies, unbalanced translocations, or chromosomal deletions and duplications detectable by conventional medical karyotyping).
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
EPGP will recruit persons with specific forms of epilepsy. DNA will be isolated from participants' blood and genetic variants associated with common forms of epilepsy will be identified.
Time frame: over 4.5 years
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 13 Nov 2018.
- Derived from this study: PubMed 32917807Weisenberg JLZ, Fitzgerald RT, Constantino JN, Winawer MR, Thio LL; EPGP Investigators. Familial aggregation of status epilepticus in generalized and focal epilepsies. Neurology. 2020 Oct 13;95(15):e2140-e2149. doi: 10.1212/WNL.0000000000010708. Epub 2020 Sep 11.
- EPGP 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. This study is not recruiting at the moment.
Daniel Lowenstein, MD principal investigator
University of California, San Francisco, Department of Neurology
Ruben Kuzniecky, MD principal investigator
New York University, Comprehensive Epilepsy Center
25 sites in 3 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Epilepsy and Localization-related Epilepsy, run by University of California, San Francisco at 25 sites in 3 countries.
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 6 inclusion and 4 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: finished, as of the sponsor's last update on 13 Nov 2018. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 25 sites in United States, Argentina, Australia. 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
EPGP will recruit persons with specific forms of epilepsy. DNA will be isolated from participants' blood and genetic variants associated with common forms of epilepsy will be identified. (time frame: over 4.5 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00552045, which also lists 1 linked publication.
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 13 Nov 2018.