SCN2A-DEENCT05407727
A Prospective, Remote Observational Study in Pediatric Participants With Early-Onset SCN2A-Developmental and Epileptic Encephalopathy
An observational study of SCN2A-DEE and Epilepsy, run by Praxis Precision Medicines at 1 site in United States.
Trial summary
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. Read more about this study
- Who is it for?
- Ages 1 year to 16 years
- How many people
- 5 participants
- Where
- 1 siteUnited States
- Study dates
- 15 Apr 2022to 31 Mar 2023
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 1 year to 16 years
- All sexes
- No healthy volunteers
- Child
Study population: This trial will enroll eligible pediatric participants with confirmed early-onset SCN2A-developmental and epileptic encephalopathy.
Who may be able to join
- 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.)
Who cannot join
- 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.
Trial locations and contacts
1 site in 1 country.
About this study
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.
- Keywords
- SCN2A-DEE, Epilepsy, SCN2A variant, Pediatric epilepsy, Electroencephalogram, Developmental and Epileptic Encephalopathy, DEE
- Medical subject headings
- Epilepsy
What is being measured
The primary outcome is the main question the study is designed to answer.
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)
Measured: Up to 12 months
Secondary outcomes (5)
Changes in clinical seizures captured via seizure diary and EEG-based outcome measures as a function of age and SCN2A variant
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.
Measured: Up to 12 months
Intercurrent events as a function of age, SCN2A variant, and medications
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.
Measured: Up to 12 months
Association between age at seizure onset and dynamic clamp-based SCN2A variant characterization
Assessment of medical history will be evaluated as a function of SCN2A variant characterization and age of seizure onset.
Measured: Up to 12 months
Frequency of seizures captured via seizure diary and EEG features at each timepoint and longitudinally
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.
Measured: Up to 12 months
Association between EEG features and seizures captured via seizure diary
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).
Measured: Up to 12 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted7 Jun 2022
- Study start15 Apr 2022
- Primary completion31 Mar 2023
- Study completion31 Mar 2023
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for SCN2A-DEEStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 5 participants (actual)
Sponsor and investigators
- Lead sponsor
- Praxis Precision Medicines
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- VP, Clinical Development, Study director, Praxis Precision Medicines
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05407727
- Sponsor's protocol ID
- SCN2A-NH1
- Status last verified
- Jan 2024
- First submitted
- 24 May 2022
- Last updated
- 10 Jan 2024
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 10 Jan 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Prospective, Remote Observational Study in Pediatric Participants With Early-Onset SCN2A-Developmental and Epileptic Encephalopathy
- ClinicalTrials.gov ID
- NCT05407727
- Acronym / sponsor ID
- SCN2A-NH1
- Keywords
- SCN2A-DEE, Epilepsy, SCN2A variant, Pediatric epilepsy, Electroencephalogram, Developmental and Epileptic Encephalopathy, DEE
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 5 participants (actual)
- Lead sponsor
- Praxis Precision MedicinesIndustry (pharma, biotech, devices)
- Study start
- 15 Apr 2022 (actual)
- Primary completion
- 31 Mar 2023 (actual)
- Study completion
- 31 Mar 2023 (actual)
- First posted
- 7 Jun 2022 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Ages
- 1 year to 16 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
- Study population
- This trial will enroll eligible pediatric participants with confirmed early-onset SCN2A-developmental and epileptic encephalopathy.
Key inclusion criteria (4 listed)
- 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.)
Key exclusion criteria (4 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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
5 secondary outcomes
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
Intercurrent events as a function of age, SCN2A variant, and medications
Time frame: Up to 12 months
Association between age at seizure onset and dynamic clamp-based SCN2A variant characterization
Time frame: Up to 12 months
Frequency of seizures captured via seizure diary and EEG features at each timepoint and longitudinally
Time frame: Up to 12 months
Association between EEG features and seizures captured via seizure diary
Time frame: Up to 12 months
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 10 Jan 2024.
Related trials for SCN2A-DEE
Active, not recruitingPhase 1/2
A Clinical Trial of PRAX-222 in Pediatric Participants With Early Onset SCN2A Developmental and Epileptic Encephalopathy
SCN2A-DEE, Epilepsy
RecruitingPhase 3
A Clinical Trial of Elsunersen in Pediatric SCN2A-DEE to Assess Efficacy and Safety
Epileptic Encephalopathy, SCN2A Encephalopathy
Active, not recruitingPhase 2/3
A Clinical Trial of PRAX-562 in Subjects With Developmental and Epileptic Encephalopathies (DEE)
SCN2A Encephalopathy, SCN8A Encephalopathy
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
VP, Clinical Development study director
Praxis Precision Medicines
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of SCN2A-DEE and Epilepsy, run by Praxis Precision Medicines at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 10 Jan 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
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). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 10 Jan 2024.