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Trial details imported from ClinicalTrials.gov

For full trial details, please see the original record at https://clinicaltrials.gov/ct2/show/NCT00552045




Registration number
NCT00552045
Ethics application status
Date submitted
30/10/2007
Date registered
1/11/2007
Date last updated
13/11/2018

Titles & IDs
Public title
Epilepsy Phenome/Genome Project
Scientific title
Epilepsy Phenome/Genome Project: A Phenotype/Genotype Analysis of Epilepsy
Secondary ID [1] 0 0
CRC
Secondary ID [2] 0 0
1R01NS053998-01A1
Universal Trial Number (UTN)
Trial acronym
EPGP
Linked study record

Health condition
Health condition(s) or problem(s) studied:
Epilepsy 0 0
Localization-related Epilepsy 0 0
Infantile Spasms 0 0
Lennox-Gastaut Syndrome 0 0
Polymicrogyria 0 0
Periventricular Heterotopias 0 0
Condition category
Condition code
Neurological 0 0 0 0
Epilepsy
Human Genetics and Inherited Disorders 0 0 0 0
Other human genetics and inherited disorders
Neurological 0 0 0 0
Other neurological disorders
Other 0 0 0 0
Conditions of unknown or disputed aetiology (such as chronic fatigue syndrome/myalgic encephalomyelitis)

Intervention/exposure
Study type
Observational
Patient registry
Target follow-up duration
Target follow-up type
Description of intervention(s) / exposure
subject - individuals with epilepsy

Comparator / control treatment
Control group

Outcomes
Primary outcome [1] 0 0
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.
Timepoint [1] 0 0
over 4.5 years

Eligibility
Key inclusion criteria
- 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.
Minimum age
4 Weeks
Maximum age
60 Years
Sex
Both males and females
Can healthy volunteers participate?
No
Key exclusion criteria
- 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).

Study design
Purpose
Duration
Selection
Timing
Prospective
Statistical methods / analysis

Recruitment
Recruitment status
Completed
Data analysis
Reason for early stopping/withdrawal
Other reasons
Date of first participant enrolment
Anticipated
Actual
Date of last participant enrolment
Anticipated
Actual
Date of last data collection
Anticipated
Actual
Sample size
Target
Accrual to date
Final
Recruitment in Australia
Recruitment state(s)
VIC
Recruitment hospital [1] 0 0
University of Melbourne - Melbourne
Recruitment postcode(s) [1] 0 0
3081 - Melbourne
Recruitment outside Australia
Country [1] 0 0
United States of America
State/province [1] 0 0
Alabama
Country [2] 0 0
United States of America
State/province [2] 0 0
Arizona
Country [3] 0 0
United States of America
State/province [3] 0 0
California
Country [4] 0 0
United States of America
State/province [4] 0 0
Colorado
Country [5] 0 0
United States of America
State/province [5] 0 0
Florida
Country [6] 0 0
United States of America
State/province [6] 0 0
Illinois
Country [7] 0 0
United States of America
State/province [7] 0 0
Maryland
Country [8] 0 0
United States of America
State/province [8] 0 0
Massachusetts
Country [9] 0 0
United States of America
State/province [9] 0 0
Michigan
Country [10] 0 0
United States of America
State/province [10] 0 0
Minnesota
Country [11] 0 0
United States of America
State/province [11] 0 0
Missouri
Country [12] 0 0
United States of America
State/province [12] 0 0
New Jersey
Country [13] 0 0
United States of America
State/province [13] 0 0
New York
Country [14] 0 0
United States of America
State/province [14] 0 0
Ohio
Country [15] 0 0
United States of America
State/province [15] 0 0
Pennsylvania
Country [16] 0 0
United States of America
State/province [16] 0 0
Tennessee
Country [17] 0 0
United States of America
State/province [17] 0 0
Texas
Country [18] 0 0
United States of America
State/province [18] 0 0
Virginia
Country [19] 0 0
United States of America
State/province [19] 0 0
Washington
Country [20] 0 0
Argentina
State/province [20] 0 0
Buenos Aires

Funding & Sponsors
Primary sponsor type
Other
Name
University of California, San Francisco
Address
Country
Other collaborator category [1] 0 0
Government body
Name [1] 0 0
National Institute of Neurological Disorders and Stroke (NINDS)
Address [1] 0 0
Country [1] 0 0

Ethics approval
Ethics application status

Summary
Brief summary
The purpose of this study is to collect detailed information about the characteristics and
genetics of a large number of individuals with epilepsy.
Trial website
https://clinicaltrials.gov/ct2/show/NCT00552045
Trial related presentations / publications
Public notes

Contacts
Principal investigator
Name 0 0
Daniel Lowenstein, MD
Address 0 0
University of California, San Francisco, Department of Neurology
Country 0 0
Phone 0 0
Fax 0 0
Email 0 0
Contact person for public queries
Name 0 0
Address 0 0
Country 0 0
Phone 0 0
Fax 0 0
Email 0 0
Contact person for scientific queries



Summary Results

For IPD and results data, please see https://clinicaltrials.gov/ct2/show/NCT00552045