- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT05407727
A Prospective, Remote Observational Study in Pediatric Participants With Early-Onset SCN2A-Developmental and Epileptic Encephalopathy
January 8, 2024 updated by: Praxis Precision Medicines
This prospective observational study is designed to assess the individualized baseline disease burden in pediatric participants aged 1 year to 16 years, with early-onset SCN2A-DEE by characterizing and quantifying changes in clinical features over a period of up to 12 months.
Study Overview
Study Type
Observational
Enrollment (Actual)
5
Contacts and Locations
This section provides the contact details for those conducting the study, and information on where this study is being conducted.
Study Locations
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Georgia
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Atlanta, Georgia, United States, 30329
- Praxis Research Site
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Participation Criteria
Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.
Eligibility Criteria
Ages Eligible for Study
1 year to 16 years (Child)
Accepts Healthy Volunteers
No
Sampling Method
Non-Probability Sample
Study Population
This trial will enroll eligible pediatric participants with confirmed early-onset SCN2A-developmental and epileptic encephalopathy.
Description
Inclusion Criteria:
- The participant has a documented SCN2A variant through genetic testing obtained via a laboratory accredited per Clinical Laboratory Improvement Amendments (CLIA) or College of American Pathologists (CAP) or equivalent.
- The participant has onset of seizures prior to 1 month of age.
- The participant has a phenotype consistent with a developmental and epileptic encephalopathy (DEE).
- The participant has a minimum of 8 countable motor seizures (as defined in the note below) in the 4 weeks prior to Screening, as reported by the parent/guardian or in the opinion of the investigator, as documented within the medical notes. (Note: Motor seizures are defined as tonic, tonic-clonic, atonic/drop attacks, focal with secondary generalization, or focal with motor symptoms. Myoclonic seizures or absence seizures only will not be considered as motor seizures for this study.)
Exclusion Criteria:
- The participant has any significant ongoing disease, disorder, laboratory abnormalities, alcohol or drug abuse or dependence, environmental factor, or any ongoing or history of any psychiatric, medical, or surgical condition that in the judgment of the investigator in consultation with the medical monitor and/or sponsor's designee, might jeopardize the participant's safety, impact the scientific objectives of the clinical study, or interfere with participation in the clinical study.
- The participant has a clinically significant genetic variant other than an SCN2A variant that may explain or contribute to the participant's epilepsy and/or developmental disorder.
- The participant has any other or additional etiology for epilepsy and/or DEE (eg, cortical dysplasia, encephalomalacia, etc), in the opinion of the investigator.
- The participant has received any experimental or investigational drug within 30 days or 5 half lives (whichever is longer) prior to Screening, including any prior use of gene therapy.
Study Plan
This section provides details of the study plan, including how the study is designed and what the study is measuring.
How is the study designed?
Design Details
- Observational Models: Cohort
- Time Perspectives: Prospective
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Time Frame |
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Assess disease burden and any variation in disease progression over time, as reflected by electrographic seizures, interictal epileptiform discharges (IEDs), and spectral features, as measured on at-home video electroencephalograms (vEEGs)
Time Frame: Up to 12 months
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Up to 12 months
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Secondary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Changes in clinical seizures captured via seizure diary and EEG-based outcome measures as a function of age and SCN2A variant
Time Frame: Up to 12 months
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Clinical seizures will be captured via seizure diary and a vEEG will be performed to record brainwave activity.
The change in mean seizure frequency per 28 days and changes in mean vEEG measures (including, but not limited to, background frequency, slowing, epileptiform activity, sleep architecture, and seizures) will both be calculated and evaluated as a function of age and SCN2A variant.
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Up to 12 months
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Intercurrent events as a function of age, SCN2A variant, and medications
Time Frame: Up to 12 months
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Intercurrent event assessment will include "since last visit" open-ended questions for the parent/guardian regarding changes in the participant's cognitive, social, and emotional development; sleep, motor, or other disease-related symptoms; and any healthcare visits or hospitalizations (whether or not related to the participant's SCN2A-DEE).
Any untoward medical occurrence that is not study procedure related will be recorded, not as an adverse event (AE), but as an intercurrent event.
Intercurrent events will be evaluated as a function of age, SCN2A variant, and medication history.
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Up to 12 months
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Association between age at seizure onset and dynamic clamp-based SCN2A variant characterization
Time Frame: Up to 12 months
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Assessment of medical history will be evaluated as a function of SCN2A variant characterization and age of seizure onset.
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Up to 12 months
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Frequency of seizures captured via seizure diary and EEG features at each timepoint and longitudinally
Time Frame: Up to 12 months
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The change in mean seizure frequency and change in mean vEEG measures (including, but not limited to, background frequency, slowing, epileptiform activity, sleep architecture, and seizures) will be reported at each timepoint and longitudinally.
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Up to 12 months
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Association between EEG features and seizures captured via seizure diary
Time Frame: Up to 12 months
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The change in mean seizure frequency per 28 days will be evaluated as a function of changes in mean vEEG measures (including, but not limited to, background frequency, slowing, epileptiform activity, sleep architecture, and seizures).
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Up to 12 months
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Collaborators and Investigators
This is where you will find people and organizations involved with this study.
Sponsor
Investigators
- Study Director: VP, Clinical Development, Praxis Precision Medicines
Study record dates
These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.
Study Major Dates
Study Start (Actual)
April 15, 2022
Primary Completion (Actual)
March 31, 2023
Study Completion (Actual)
March 31, 2023
Study Registration Dates
First Submitted
May 24, 2022
First Submitted That Met QC Criteria
June 1, 2022
First Posted (Actual)
June 7, 2022
Study Record Updates
Last Update Posted (Actual)
January 10, 2024
Last Update Submitted That Met QC Criteria
January 8, 2024
Last Verified
January 1, 2024
More Information
Terms related to this study
Keywords
Additional Relevant MeSH Terms
Other Study ID Numbers
- SCN2A-NH1
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
No
Studies a U.S. FDA-regulated device product
No
product manufactured in and exported from the U.S.
No
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
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