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Trial record 1 of 1 for:    NCT04537832
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Natural History Study of Infants and Children With SCN1A-positive Dravet Syndrome (ENVISION)

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ClinicalTrials.gov Identifier: NCT04537832
Recruitment Status : Recruiting
First Posted : September 3, 2020
Last Update Posted : September 28, 2020
Sponsor:
Information provided by (Responsible Party):
Encoded Therapeutics

Brief Summary:
This is a multicenter, prospective, 2-year observational study in subjects aged 6 to 60 months (at baseline), inclusive, with SCN1A-positive Dravet Syndrome.

Condition or disease Intervention/treatment
Dravet Syndrome Other: No Intervention

Detailed Description:
This is a prospective natural history study designed to further define the seizure, neurodevelopmental, motor and behavioral characteristics of SCN1A-positive Dravet Syndrome in children aged 6 to 60 months (at baseline) with SCN1A mutations. The study will examine these characteristics over 2 years using standardized assessments and will also explore the impact of the disease on parents/caregivers and health care resource utilization (HCRU).

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Study Type : Observational
Estimated Enrollment : 50 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: ENVISION: Natural History Study of Infants and Children With SCN1A-positive Dravet Syndrome
Estimated Study Start Date : September 30, 2020
Estimated Primary Completion Date : June 25, 2024
Estimated Study Completion Date : June 25, 2024


Group/Cohort Intervention/treatment
Group 1
Subjects from 6 through 60 months of age (at baseline) who have SCN1A+ Dravet Syndrome. Clinical, neurocognitive, laboratory, the burden of disease, and health care resource utilization will be assessed.
Other: No Intervention
No Intervention




Primary Outcome Measures :
  1. Seizure burden [ Time Frame: Every 3 months from Baseline through Month 24 ]
    Measured using monthly seizure frequency derived from seizure diaries

  2. Seizure freedom [ Time Frame: Within each 6-month interval starting from Baseline through Month 24 ]
    Measured using the proportion of seizure-free days observed between two-time points in the seizure diaries

  3. Motor functioning [ Time Frame: Baseline, Months 6, 12, 18; and Month 24 ]
    Measured using binary outcomes (achieved vs. not achieved) of 6 motor items adapted from the Bayley Scales of Infant and Toddler Development instrument. Motor milestones include: (1) Sit unassisted for 30 seconds; (2) Walk with assistance; (3) Stand alone; (4) Walk alone; (5) Walk upstairs; and (6) Jump forward

  4. Use of anti-epileptic drug [ Time Frame: Baseline, Months 6, 12, 18 and 24 ]
    Measured using the incidence of anti-epileptic drug usage observed between two time points in the clinical database. Endpoint will be calculated within each 6-month interval from starting from Baseline through Month 24

  5. Use of Ketogenic Diet [ Time Frame: Baseline, Months 6, 12, 18 and 24 ]
    Measured using the incidence of ketogenic diet usage between two time points. Endpoint will be calculated within each 6-month interval from starting from Baseline through Month 24

  6. Cognitive functioning [ Time Frame: Baseline, Months 6, 12, 18 and 24 ]
    • Measured using composite scores from 5 domains in the Bayley Scales of Infant and Toddler Development instrument. Domains include: (1) Cognitive; (2) Language; (3) Motor; (4) Social-Emotional; and (5) General Adaptive
    • Composite scores are normalized to a mean and SD of 100 and 15, respectively (range is not applicable as the scores are unbounded). Higher scores correspond to better outcomes compared to a normal population

  7. Behavioral and social functioning [ Time Frame: Baseline, Months 3, 9, 15, 21 and 24 ]
    • Measured using raw scores from 2 domains in the Brief Infant Toddler Social Emotional Assessment. Domains include: (1) Problem; and (2) Competence
    • Domain raw scores range from 31 to 93 and 11 to 33 for the Problem and Competence domains, respectively. Higher Problem scores correspond to worse outcomes. Higher Competence scores correspond to better outcomes

  8. Incidence of Adverse Events [ Time Frame: Baseline through Month 24 ]
    Measured using the incidence of adverse events and serious adverse events (broken down by preferred term) observed between two time points during the study

  9. Overall survival [ Time Frame: Baseline through Month 24 ]
    Measured using the incidence of death observed by a given time point during the study


Biospecimen Retention:   Samples With DNA
Serum


Information from the National Library of Medicine

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Ages Eligible for Study:   6 Months to 60 Months   (Child)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
Children aged 6 to 60 months with SCN1A-positive Dravet Syndrome.
Criteria

Inclusion Criteria:

  • Confirmed SCN1A mutation.
  • Normal development prior to onset of first seizure as defined by the Centers for Disease -Control and Prevention (CDC 2019).
  • Onset of seizures between age 3 and 15 months, inclusive.

Exclusion Criteria:

  • Copy number variant of SCN1A, including SCN1A microdeletion, if affecting other genes.
  • SCN1A mutation present on both alleles. Known pathogenic or clinically suspected mutation in a seizure-associated gene besides SCN1A.
  • Confirmed mutation in a gene besides SCN1A, as determined by an Independent Adjudication Committee, that is known to increase the severity of the seizure phenotype.
  • Subject has a known gain-of-function genetic mutation, as defined by functional studies, including p.Thr226Met.
  • History of notable developmental deficit that was evident prior to seizure onset.
  • Known central nervous system structural abnormality as found on magnetic resonance imaging or computed tomography scan of brain.
  • Repeated or prolonged (>6 consecutive weeks) exposure to anti-epileptic drugs (AEDs) that are contraindicated in SCN1A-positive Dravet Syndrome, including sodium channel blockers.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04537832


Contacts
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Contact: Encoded Patient Advocacy +1 (650) 398-4301 patientadvocacy@encoded.com

Locations
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United States, New Jersey
Northeast Regional Epilepsy Group Recruiting
Hackensack, New Jersey, United States, 07601
Contact: Victoria Sica       VSica@epilepsygroup.com   
Sponsors and Collaborators
Encoded Therapeutics
Investigators
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Study Director: Salvador Rico, M.D., Ph.D Encoded Therapeutics
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Responsible Party: Encoded Therapeutics
ClinicalTrials.gov Identifier: NCT04537832    
Other Study ID Numbers: ETX-DS-001
First Posted: September 3, 2020    Key Record Dates
Last Update Posted: September 28, 2020
Last Verified: September 2020
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided
Plan Description: Plan is undecided

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Encoded Therapeutics:
severe myoclonic epilepsy
epilepsy
severe myoclonic epilepsy of infancy
SMEI
SCN1A related seizure disorder
epileptic encephalopathy
Additional relevant MeSH terms:
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Epilepsies, Myoclonic
Syndrome
Disease
Pathologic Processes
Epilepsy, Generalized
Epilepsy
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Epileptic Syndromes