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Register:	ClinicalTrials.gov
Last refreshed on:	12 December 2020
Main ID:	NCT00552045
Date of registration:	30/10/2007
Prospective Registration:	Yes
Primary sponsor:	University of California, San Francisco
Public title:	Epilepsy Phenome/Genome Project EPGP
Scientific title:	Epilepsy Phenome/Genome Project: A Phenotype/Genotype Analysis of Epilepsy
Date of first enrolment:	November 2007
Target sample size:	4150
Recruitment status:	Completed
URL:	https://clinicaltrials.gov/show/NCT00552045
Study type:	Observational
Study design:
Phase:

Countries of recruitment
Argentina	Australia	United States

Contacts

Name:	Ruben Kuzniecky, MD
Address:
Telephone:
Email:
Affiliation:	New York University, Comprehensive Epilepsy Center

Name:	Daniel Lowenstein, MD
Address:
Telephone:
Email:
Affiliation:	University of California, San Francisco, Department of Neurology

Key inclusion & exclusion criteria

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.

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).

Age minimum: N/A
Age maximum: 60 Years
Gender: All

Health Condition(s) or Problem(s) studied

Infantile Spasms

Localization-related Epilepsy

Polymicrogyria

Lennox-Gastaut Syndrome

Epilepsy

Periventricular Heterotopias

Intervention(s)

Primary Outcome(s)

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]

Secondary Outcome(s)

Secondary ID(s)

1R01NS053998

CRC

1R01NS053998-01A1

Source(s) of Monetary Support

Please refer to primary and secondary sponsors

Secondary Sponsor(s)

National Institute of Neurological Disorders and Stroke (NINDS)

Ethics review

Results

Results available:
Date Posted:
Date Completed:
URL:

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