Brief Summary
HEP is a five-year, prospective, observational study whose primary goal is to identify clinical characteristics and biomarkers predictive of disease outcome, progression, and treatment response in participants with newly treated focal epilepsy.
Brief Title
The Human Epilepsy Project
Detailed Description
Epilepsy is a serious disease. It affects approximately 2.4 million Americans, with a lifetime risk estimated at 3%. More than 181,000 Americans develop epilepsy every year, and a substantial proportion has seizures that cannot be controlled by available medications. For the vast majority of patients with epilepsy, we do not understand the biological basis of their disease; we do not know whether a given anti-epileptic drug (AED) will be effective; and we cannot predict the severity of the seizure disorder, the potential emergence of co-morbidities, or the likelihood of remission.
The Human Epilepsy Project seeks to answer these unknowns by collecting high-resolution clinical information and treatment response, MRIs, EEGs, and blood and urine samples for biomarkers. A major outcome of the project is to create an open data repository of clinical information and biologic samples for future studies.
HEP may have a transformative impact on epilepsy diagnosis and treatment by identifying critical clinical features and biomarkers at the onset of epilepsy that can be used to predict outcome and guide therapy. We hope to identify subsets of patients at high risk for pharmacoresistance who may benefit from more aggressive initial therapy and earlier consideration for surgical treatment. The existence of biomarkers that predict the likelihood of disease remission would dramatically affect treatment decisions and counseling for millions of patients.
In addition to its impact on current clinical care, the data and specimens collected in HEP, including sequential neuroimaging, electrophysiology and metabolite profiles, and banked DNA for the purpose of future genomics studies, have the potential to provide new insights into the biological basis of focal epilepsy, which will advance our efforts to discover effective treatments and cures for this disorder.
The Human Epilepsy Project seeks to answer these unknowns by collecting high-resolution clinical information and treatment response, MRIs, EEGs, and blood and urine samples for biomarkers. A major outcome of the project is to create an open data repository of clinical information and biologic samples for future studies.
HEP may have a transformative impact on epilepsy diagnosis and treatment by identifying critical clinical features and biomarkers at the onset of epilepsy that can be used to predict outcome and guide therapy. We hope to identify subsets of patients at high risk for pharmacoresistance who may benefit from more aggressive initial therapy and earlier consideration for surgical treatment. The existence of biomarkers that predict the likelihood of disease remission would dramatically affect treatment decisions and counseling for millions of patients.
In addition to its impact on current clinical care, the data and specimens collected in HEP, including sequential neuroimaging, electrophysiology and metabolite profiles, and banked DNA for the purpose of future genomics studies, have the potential to provide new insights into the biological basis of focal epilepsy, which will advance our efforts to discover effective treatments and cures for this disorder.
Categories
Completion Date
Completion Date Type
Actual
Conditions
Focal Epilepsy
Eligibility Criteria
Inclusion Criteria:
* Clinical seizure(s) and history consistent with focal epilepsy
* At least two confirmed spontaneous seizures, at least 24 hours apart, in the 12 months prior to enrollment
* Complete AED history prior to enrollment (with approximate dates and doses) is available (exception can be made for AEDs taken for \<1 week)
* Age ≥12 years and ≤60 years at time of seizure onset
* Age ≥12 years and ≤60 years at time of enrollment
* Treatment instituted not more than 4 months prior to enrollment
* One of the following:
1. Normal MRI with inter-ictal EEG showing focal abnormality (focal sharp waves or focal slowing)
2. Normal MRI and normal inter-ictal EEG, with clinical or electrographic seizure activity on ictal EEG
3. Definitive clinical history of recurrent seizures consistent with focal epilepsy, adjudicated by central reviewers, if normal MRI and normal EEG
4. Focal lesion (non-progressive) on MRI with normal EEG (acceptable focal lesions include MTS, FCD, single cavernoma, and AVMs that are not of large size and lack significant amounts of hemosiderin)
Exclusion Criteria:
* Idiopathic or symptomatic generalized epilepsy
* Any epilepsy etiology that could produce significant gliosis or brain injury and would be likely to alter biomarkers. These include:
1. Epilepsy with an etiology occurring in the previous two years that would produce significant CNS injury (e.g., traumatic brain injury that involves direct disruption of brain tissue, stroke, encephalitis)
2. History of intracranial bleeding (e.g., subarachnoid, intraparenchymal)
* Identified genetic epilepsy syndrome
* Presence of moderate or greater developmental or cognitive delay prior to seizure onset (e.g., if an adolescent, not in self-contained classroom; if IQ is documented, should be \> 70)
* History of chronic drug or alcohol abuse within the last 2 years
* IGE/focal epilepsy mixed syndromes
* Progressive neurological disorder (brain tumor, AD, PME, etc.)
* Major medical co-morbidities such as renal failure requiring dialysis, metastatic cancer, HIV, or significant liver or renal disease
* Autism Spectrum Disorder
* Seizures only during pregnancy
* History of previous or current significant psychiatric disorder that would interfere with conduct of the study
* Clinical seizure(s) and history consistent with focal epilepsy
* At least two confirmed spontaneous seizures, at least 24 hours apart, in the 12 months prior to enrollment
* Complete AED history prior to enrollment (with approximate dates and doses) is available (exception can be made for AEDs taken for \<1 week)
* Age ≥12 years and ≤60 years at time of seizure onset
* Age ≥12 years and ≤60 years at time of enrollment
* Treatment instituted not more than 4 months prior to enrollment
* One of the following:
1. Normal MRI with inter-ictal EEG showing focal abnormality (focal sharp waves or focal slowing)
2. Normal MRI and normal inter-ictal EEG, with clinical or electrographic seizure activity on ictal EEG
3. Definitive clinical history of recurrent seizures consistent with focal epilepsy, adjudicated by central reviewers, if normal MRI and normal EEG
4. Focal lesion (non-progressive) on MRI with normal EEG (acceptable focal lesions include MTS, FCD, single cavernoma, and AVMs that are not of large size and lack significant amounts of hemosiderin)
Exclusion Criteria:
* Idiopathic or symptomatic generalized epilepsy
* Any epilepsy etiology that could produce significant gliosis or brain injury and would be likely to alter biomarkers. These include:
1. Epilepsy with an etiology occurring in the previous two years that would produce significant CNS injury (e.g., traumatic brain injury that involves direct disruption of brain tissue, stroke, encephalitis)
2. History of intracranial bleeding (e.g., subarachnoid, intraparenchymal)
* Identified genetic epilepsy syndrome
* Presence of moderate or greater developmental or cognitive delay prior to seizure onset (e.g., if an adolescent, not in self-contained classroom; if IQ is documented, should be \> 70)
* History of chronic drug or alcohol abuse within the last 2 years
* IGE/focal epilepsy mixed syndromes
* Progressive neurological disorder (brain tumor, AD, PME, etc.)
* Major medical co-morbidities such as renal failure requiring dialysis, metastatic cancer, HIV, or significant liver or renal disease
* Autism Spectrum Disorder
* Seizures only during pregnancy
* History of previous or current significant psychiatric disorder that would interfere with conduct of the study
Inclusion Criteria
Inclusion Criteria:
* Clinical seizure(s) and history consistent with focal epilepsy
* At least two confirmed spontaneous seizures, at least 24 hours apart, in the 12 months prior to enrollment
* Complete AED history prior to enrollment (with approximate dates and doses) is available (exception can be made for AEDs taken for \<1 week)
* Age ≥12 years and ≤60 years at time of seizure onset
* Age ≥12 years and ≤60 years at time of enrollment
* Treatment instituted not more than 4 months prior to enrollment
* One of the following:
1. Normal MRI with inter-ictal EEG showing focal abnormality (focal sharp waves or focal slowing)
2. Normal MRI and normal inter-ictal EEG, with clinical or electrographic seizure activity on ictal EEG
3. Definitive clinical history of recurrent seizures consistent with focal epilepsy, adjudicated by central reviewers, if normal MRI and normal EEG
4. Focal lesion (non-progressive) on MRI with normal EEG (acceptable focal lesions include MTS, FCD, single cavernoma, and AVMs that are not of large size and lack significant amounts of hemosiderin)
* Clinical seizure(s) and history consistent with focal epilepsy
* At least two confirmed spontaneous seizures, at least 24 hours apart, in the 12 months prior to enrollment
* Complete AED history prior to enrollment (with approximate dates and doses) is available (exception can be made for AEDs taken for \<1 week)
* Age ≥12 years and ≤60 years at time of seizure onset
* Age ≥12 years and ≤60 years at time of enrollment
* Treatment instituted not more than 4 months prior to enrollment
* One of the following:
1. Normal MRI with inter-ictal EEG showing focal abnormality (focal sharp waves or focal slowing)
2. Normal MRI and normal inter-ictal EEG, with clinical or electrographic seizure activity on ictal EEG
3. Definitive clinical history of recurrent seizures consistent with focal epilepsy, adjudicated by central reviewers, if normal MRI and normal EEG
4. Focal lesion (non-progressive) on MRI with normal EEG (acceptable focal lesions include MTS, FCD, single cavernoma, and AVMs that are not of large size and lack significant amounts of hemosiderin)
Gender
All
Gender Based
false
Keywords
epilepsy
focal epilepsy
Healthy Volunteers
No
Last Update Post Date
Last Update Post Date Type
Actual
Last Update Submit Date
Maximum Age
60 Years
Minimum Age
12 Years
NCT Id
NCT02126774
Org Class
Other
Org Full Name
NYU Langone Health
Org Study Id
12-02865
Overall Status
Completed
Primary Completion Date
Primary Completion Date Type
Actual
Official Title
The Human Epilepsy Project
Primary Outcomes
Outcome Measure
Presence of Biomarker(s) Predictive of Anti-epileptic Drug Treatment Response
Outcome Time Frame
up to 36 months
See Also Links
Url
Start Date
Start Date Type
Actual
Status Verified Date
First Post Date
First Post Date Type
Estimated
First Submit Date
First Submit QC Date
Study Population
Epilepsy/Neurology clinical centers
Std Ages
Child
Adult
Maximum Age Number (converted to Years and rounded down)
60
Minimum Age Number (converted to Years and rounded down)
12
Investigators
Investigator Type
Principal Investigator
Investigator Name
Sheryl Haut
Investigator Email
shaut@montefiore.org
Investigator Phone
718-920-4898