A Prospective, Remote Observational Study in Pediatric Participants With Early-Onset SCN2A-Developmental and Epileptic Encephalopathy

NCT05407727 | Completed

• 1 other identifier: SCN2A-NH1
• Study Type: observational
• Target: 5
• Locations: 1 country
• Sites: 1

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.

Conditions

SCN2A-DEE; Epilepsy

Keywords

SCN2A-DEE; Epilepsy; SCN2A variant; Pediatric epilepsy; Electroencephalogram; Developmental and Epileptic Encephalopathy; DEE

Outcome Measures

Primary Outcomes (1)

• 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)

  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

  Up to 12 months

• Intercurrent events as a function of age, SCN2A variant, and medications

  Up to 12 months

• Association between age at seizure onset and dynamic clamp-based SCN2A variant characterization

  Up to 12 months

• Frequency of seizures captured via seizure diary and EEG features at each timepoint and longitudinally

  Up to 12 months

• Association between EEG features and seizures captured via seizure diary

  Up to 12 months

Eligibility Criteria

• Age: 1 Year - 16 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)
• Sampling Method: Non-Probability Sample

Study Population

This trial will enroll eligible pediatric participants with confirmed early-onset SCN2A-developmental and epileptic encephalopathy.

You may qualify if:

• 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.)

You may not qualify if:

• 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.

Sponsors & Collaborators

• Praxis Precision Medicines: lead

Study Sites (1)

Praxis Research Site

Atlanta, Georgia, 30329, United States

Location

MeSH Terms

Conditions

Epilepsy

Condition Hierarchy (Ancestors)

Brain Diseases; Central Nervous System Diseases; Nervous System Diseases

Study Officials

• VP, Clinical Development

  Praxis Precision Medicines

  STUDY DIRECTOR

Study Design

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

Study Record Dates

• First Submitted: May 24, 2022
• First Posted: June 7, 2022
• Study Start: April 15, 2022
• Primary Completion: March 31, 2023
• Study Completion: March 31, 2023
• Last Updated: January 10, 2024

Record last verified: 2024-01

Locations

US (1)