Human Epilepsy Project 3

NCT05374928 | Active Not Recruiting

• 1 other identifier: 19-01030
• Study Type: observational
• Target: 320
• Locations: 2 countries
• Sites: 18

Brief Summary

By carrying a careful, large-scale and ambitious prospective study of a cohort of participants with generalized epilepsy, the study team hopes to clarify the likelihood of response and remission in this type of epilepsy, and try to explore the underlying biological drivers of treatment response, including novel realms of exploration such as impact of the microbiome, and genetics. The identification of biomarkers that predict the likelihood of disease response would allow epilepsy patients to make more informed decisions about the factors affecting their quality of life, including plans for driving, relationships, pregnancy, schooling, work, and play. In addition to its impact on clinical care, the data and specimens collected in HEP3, including sequential electrophysiology, biochemical profiles and neuroimaging and banked DNA for future genomics studies, have the potential to provide new insights into the biological basis of IGE, thereby advancing the discovery of effective treatments and cures. By enrolling both newly diagnosed subjects (prognosis unknown) as well as subjects with established IGE who are already determined to be treatment resistant or treatment responsive, the study team can immediately test potential biomarkers in a confirmation cohort, which will accelerate identification of predictive biomarkers.

Conditions

Idiopathic Generalized Epilepsy

Outcome Measures

Primary Outcomes (21)

• Number of Individual Seizures

  Self-reported via the Seer Seizure Diary App (https://app.seermedical.com)

  Baseline

• Number of Cluster Seizures

  Self-reported via the Seer Seizure Diary App (https://app.seermedical.com)

  Baseline

• Number of episodes of non-adherence

  Self-reported via the Seer Seizure Diary App (https://app.seermedical.com)

  Baseline

• Average daily steps

  Participants will be provided a Fitbit Inspire HR watch and will be trained to open an account on fitbit.com and synchronize their Fitbit watch data into their Fitbit cloud account. Daily steps is synchronized and collected for this study.

  Baseline

• Average distance walked

  Participants will be provided a Fitbit Inspire HR watch and will be trained to open an account on fitbit.com and synchronize their Fitbit watch data into their Fitbit cloud account. Daily steps is synchronized and collected for this study.

  Baseline

• Average heart rate

  Participants will be provided a Fitbit Inspire HR watch and will be trained to open an account on fitbit.com and synchronize their Fitbit watch data into their Fitbit cloud account. Daily steps is synchronized and collected for this study.

  Baseline

• Average daily sleep duration

  Participants will be provided a Fitbit Inspire HR watch and will be trained to open an account on fitbit.com and synchronize their Fitbit watch data into their Fitbit cloud account. Daily steps is synchronized and collected for this study. Using the Embleema Patient Web App, participants will be able to consult their activity and sleep data in interactive graphs.

  Baseline

• Average daily wake duration

  Participants will be provided a Fitbit Inspire HR watch and will be trained to open an account on fitbit.com and synchronize their Fitbit watch data into their Fitbit cloud account. Daily steps is synchronized and collected for this study. Using the Embleema Patient Web App, participants will be able to consult their activity and sleep data in interactive graphs.

  Baseline

• Change in Quality of Life in Epilepsy Inventory-10 (QOLIE-10) Score

  QOLIE-10 assesses the patient's quality of life. There are 11 total items. The total score range is 10-51; with higher scores indicating greater impairment. The total score is the sum of scores for all questions divided by the number of items answered. Thus, if a patient skipped an item, it is not reflected in the total score.

  Baseline, Month 12

• Change in Quality of Life in Epilepsy Inventory-10 (QOLIE-10) Score

  QOLIE-10 assesses the patient's quality of life. There are 11 total items. The total score range is 10-51; with higher scores indicating greater impairment. The total score is the sum of scores for all questions divided by the number of items answered. Thus, if a patient skipped an item, it is not reflected in the total score.

  Baseline, Month 24

• Change in Quality of Life in Epilepsy Inventory-10 (QOLIE-10) Score

  QOLIE-10 assesses the patient's quality of life. There are 11 total items. The total score range is 10-51; with higher scores indicating greater impairment. The total score is the sum of scores for all questions divided by the number of items answered. Thus, if a patient skipped an item, it is not reflected in the total score.

  Month 12, Month 24

• Change in General Anxiety Disorder-7 Screener (GAD-7) Score

  This will only be reported for adults. GAD-7 consists of 7 problems. Participants report how often they have been bothered by the 7 problems over the last 2 weeks on a Likert Scale from 0 (not at all) to 3 (nearly every day). The total score range is 0-21; the higher the score, the more severe the anxiety. 0-4=minimal anxiety, 5-9=mild, 10-14=moderate, 15-21=severe anxiety.

  Baseline, Month 12

• Change in General Anxiety Disorder-7 Screener (GAD-7) Score

  This will only be reported for adults. GAD-7 consists of 7 problems. Participants report how often they have been bothered by the 7 problems over the last 2 weeks on a Likert Scale from 0 (not at all) to 3 (nearly every day). The total score range is 0-21; the higher the score, the more severe the anxiety. 0-4=minimal anxiety, 5-9=mild, 10-14=moderate, 15-21=severe anxiety.

  Baseline, Month 24

• Change in General Anxiety Disorder-7 Screener (GAD-7) Score

  This will only be reported for adults. GAD-7 consists of 7 problems. Participants report how often they have been bothered by the 7 problems over the last 2 weeks on a Likert Scale from 0 (not at all) to 3 (nearly every day). The total score range is 0-21; the higher the score, the more severe the anxiety. 0-4=minimal anxiety, 5-9=mild, 10-14=moderate, 15-21=severe anxiety.

  Month 12, Month 24

• Columbia Suicide Severity Rating Scale (C-SSRS) Score

  C-SSRS systematically tracks suicidal ideation and behavior. The total score range is 0 (no ideation is present) - 5 (active suicidal ideation with specific plan and intent). The higher the score, the greater one's suicidal ideation. Any score greater than 0 is important and may indicate the need for mental health intervention

  Baseline

• Columbia Suicide Severity Rating Scale (C-SSRS) Score

  C-SSRS systematically tracks suicidal ideation and behavior. The total score range is 0 (no ideation is present) - 5 (active suicidal ideation with specific plan and intent). The higher the score, the greater one's suicidal ideation. Any score greater than 0 is important and may indicate the need for mental health intervention

  Month 12

• Columbia Suicide Severity Rating Scale (C-SSRS) Score

  C-SSRS systematically tracks suicidal ideation and behavior. The total score range is 0 (no ideation is present) - 5 (active suicidal ideation with specific plan and intent). The higher the score, the greater one's suicidal ideation. Any score greater than 0 is important and may indicate the need for mental health intervention

  Month 24

• Cogstate Neuropsychological Assessment Score

  The Cogstate is a battery of online computerized tests that assesses functions such as attention, memory, and processing speed. Scores are normalized to the range of 0-100th percentile based on speed of test completion and task accuracy. A higher percentile score indicates higher levels of cognitive functioning within the tested domain as compared to controls.

  Baseline

• Cogstate Neuropsychological Assessment Score

  The Cogstate is a battery of online computerized tests that assesses functions such as attention, memory, and processing speed. Scores are normalized to the range of 0-100th percentile based on speed of test completion and task accuracy. A higher percentile score indicates higher levels of cognitive functioning within the tested domain as compared to controls.

  Month 12

• Cogstate Neuropsychological Assessment Score

  The Cogstate is a battery of online computerized tests that assesses functions such as attention, memory, and processing speed. Scores are normalized to the range of 0-100th percentile based on speed of test completion and task accuracy. A higher percentile score indicates higher levels of cognitive functioning within the tested domain as compared to controls.

  Month 24

• Wide Range Achievement Test (WRAT-4) Score

  WRAT4 is an academic skills assessment which measures reading skills, math skills, spelling, and comprehension. Only the Word Reading portion of the assessment will be administered. The total raw score range is from 0-70, with a normalized score range of 55-145. The higher the score, the more advanced the participant's reading comprehension skills for their age range.

  Baseline

Study Arms (3)

Cohort 1: Newly Diagnosed Idiopathic Generalized Epilepsy (IGE)

Cohort 1 will have IGE that was diagnosed within the prior year. We will follow these participants for a minimum of two years.

Cohort 2: Longstanding Treatment Responsive

Cohort 2 will consist of subjects with established IGE who have been responsive to treatment.

Cohort 3: Longstanding IGE, Treatment Resistant

Cohort 3 will consist of patients with established treatment-resistant IGE.

Eligibility Criteria

• Age: 13 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

Patients with newly diagnosed IGE, as well as a cohort of subjects with established IGE.

You may qualify if:

• Age ≥13 years at time of enrollment
• Age ≥8 years at time of seizure onset
• Clinical seizure(s) and history consistent with IGE. The only permitted seizure types are absence, myoclonus or generalized tonic-clonic convulsions
• Occurrence of at least 1 seizure of any type in the 6 months prior to treatment
• Patients must have one of the following:
• GTCSs alone accompanied by generalized spike-wave consistent with IGE per adjudication review
• GTCSs with a history of absence and/or myoclonus, accompanied by generalized spike-wave consistent with IGE per adjudication review
• GTCSs associated with a history of absence and/or myoclonus, not accompanied by generalized spike-wave consistent with IGE per adjudication review
• A clear history of absence and/or myoclonus, accompanied by generalized spike-wave consistent with IGE per adjudication review
• Availability of a complete medication history since initiation of treatment, including doses and date of initiation
• No competing cause of epilepsy (e.g. traumatic brain injury)
• AED treatment (for seizures) instituted not more than 12 months before enrollment

You may not qualify if:

• Focal epilepsy
• Generalized/focal epilepsy mixed syndromes
• Progressive neurological disorder (brain tumor, Alzheimer's disease, progressive myoclonic epilepsy, etc.)
• Epileptic or developmental encephalopathy
• Major medical co-morbidities (e.g. renal failure requiring dialysis, metastatic cancer, HIV, or significant liver or renal disease)
• Autism Spectrum Disorder
• History of chronic drug or alcohol abuse (misuse or excessive use that interferes with activities of daily living) within the last 2 years
• Seizures only during pregnancy
• History of previous or current significant psychiatric disorder that would interfere with study requirements
• Cohort 2: Longstanding Treatment Responsive
• Age ≥13 years at time of enrollment
• Age ≥8 years at time of seizure onset
• Clinical seizure(s) and history consistent with IGE. The only permitted seizure types are absence, myoclonus or generalized tonic-clonic convulsions
• Patients must have had one of the following:
• GTCSs alone accompanied by generalized spike-wave consistent with IGE per adjudication review

Sponsors & Collaborators

• NYU Langone Health: lead

Study Sites (18)

University of California San Francisco (UCSF)

San Francisco, California, 94143, United States

Location

Yale University

New Haven, Connecticut, 06520, United States

Location

Georgetown University

Washington D.C., District of Columbia, 20057, United States

Location

University of Miami

Miami, Florida, 33146, United States

Location

Maine Medical Center

Portland, Maine, 04102, United States

Location

The Johns Hopkins Hospital

Baltimore, Maryland, 21287, United States

Location

Mid-Atlantic Epilepsy Sleep Center

Bethesda, Maryland, 20817, United States

Location

Mayo Clinic

Rochester, Minnesota, 55905, United States

Location

Minnesota Epilepsy Group

Saint Paul, Minnesota, 55113, United States

Location

Washington University

St Louis, Missouri, 63130, United States

Location

St. Barnabas Medical Center

Livingston, New Jersey, 07039, United States

Location

NYU Langone Health - Comprehensive Epilepsy Center (CEC)

New York, New York, 10016, United States

Location

Mount Sinai Hospital

New York, New York, 10029, United States

Location

Northwell Health

New York, New York, 10065, United States

Location

University of Pennsylvania

Philadelphia, Pennsylvania, 19104, United States

Location

University of Texas Health Science Center

San Antonio, Texas, 77030, United States

Location

University of Utah Hospital

Salt Lake City, Utah, 84132, United States

Location

Monash University

Melbourne, Clayton VIC, 3800, Australia

Location

Biospecimen

Retention: SAMPLES WITH DNA

Participants will be asked to provide urine for small molecule analysis, blood if he/she is 13-17 years old, or protein, cell-free DNA, metabolomics, and RNA analyses, and a stool sample for microbiome analysis.

MeSH Terms

Conditions

Epilepsy, Idiopathic Generalized

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 11, 2022
• First Posted: May 16, 2022
• Study Start: March 9, 2020
• Primary Completion: December 1, 2025
• Study Completion: December 1, 2025
• Last Updated: July 4, 2025

Record last verified: 2025-07

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL
• Time Frame: Beginning 9 months and ending 36 months following article publication or as required by a condition of awards and agreements supporting the research.
• Access Criteria: Researchers who provide a methodologically sound proposal will have access to the data upon reasonable request. All requests for study data will be submitted using a standardized form that will be available on the HEP3 website (www.humanepilepsyproject.org).

Locations

AU (1); US (17)