Clinical trial NCT05407727: A Prospective, Remote Observational Study in Pediatric Participants With Early-Onset SCN2A-Developmental and Epileptic Encephalopathy
Official title: A Prospective, Remote Observational Study in Pediatric Participants With Early-Onset SCN2A-Developmental and Epileptic Encephalopathy
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: SCN2A-DEE
Epilepsy
Keywords: SCN2A-DEE
Epilepsy
SCN2A variant
Pediatric epilepsy
Electroencephalogram
Developmental and Epileptic Encephalopathy
DEE
Lead sponsor: Praxis Precision Medicines
Sponsor class: INDUSTRY
First posted: 2022-06-07
Enrollment: 5
Sex: ALL
Minimum age (years): 1
Maximum age (years): 16
Standard ages: CHILD
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: This trial will enroll eligible pediatric participants with confirmed early-onset SCN2A-developmental and epileptic encephalopathy.

Brief 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.


Eligibility criteria: Inclusion Criteria:

1. 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.
2. The participant has onset of seizures prior to 1 month of age.
3. The participant has a phenotype consistent with a developmental and epileptic encephalopathy (DEE).
4. 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:

1. 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.
2. 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.
3. The participant has any other or additional etiology for epilepsy and/or DEE (eg, cortical dysplasia, encephalomalacia, etc), in the opinion of the investigator.
4. 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.

Primary outcomes:
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)
timeFrame: Up to 12 months
Secondary outcomes:
measure: Changes in clinical seizures captured via seizure diary and EEG-based outcome measures as a function of age and SCN2A variant
timeFrame: Up to 12 months
measure: Intercurrent events as a function of age, SCN2A variant, and medications
timeFrame: Up to 12 months
measure: Association between age at seizure onset and dynamic clamp-based SCN2A variant characterization
timeFrame: Up to 12 months
measure: Frequency of seizures captured via seizure diary and EEG features at each timepoint and longitudinally
timeFrame: Up to 12 months
measure: Association between EEG features and seizures captured via seizure diary
timeFrame: Up to 12 months
Other outcomes:
Locations:
city: Atlanta
country: United States
facility: Praxis Research Site
state: Georgia
Study officials:
affiliation: Praxis Precision Medicines
name: VP, Clinical Development
role: STUDY_DIRECTOR
References: