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Trial details imported from ClinicalTrials.gov
For full trial details, please see the original record at
https://clinicaltrials.gov/ct2/show/NCT04537832
Registration number
NCT04537832
Ethics application status
Date submitted
21/08/2020
Date registered
3/09/2020
Date last updated
12/06/2023
Titles & IDs
Public title
Natural History Study of Infants and Children With Developmental and Epileptic Encephalopathies
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Scientific title
ENVISION: Natural History Study of Infants and Children With Developmental and Epileptic Encephalopathies
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Secondary ID [1]
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ETX-DS-001
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Universal Trial Number (UTN)
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Trial acronym
ENVISION
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Linked study record
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Health condition
Health condition(s) or problem(s) studied:
Dravet Syndrome
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Condition category
Condition code
Neurological
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Epilepsy
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Intervention/exposure
Study type
Observational
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Patient registry
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Target follow-up duration
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Target follow-up type
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Description of intervention(s) / exposure
Other interventions - No Intervention
SCN1A-positive Dravet Syndrome - Participants aged between 6 and 60 months of age who have SCN1A-positive Dravet Syndrome. Clinical, neurocognitive, laboratory, the burden of disease, and health care resource utilization will be assessed.
Other interventions: No Intervention
No Intervention
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Intervention code [1]
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Other interventions
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Comparator / control treatment
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Control group
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Outcomes
Primary outcome [1]
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Seizure burden
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Assessment method [1]
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Measured using monthly seizure frequency derived from seizure diaries.
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Timepoint [1]
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Change from Baseline at 24 months
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Primary outcome [2]
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Seizure freedom
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Assessment method [2]
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Measured using the proportion of seizure-free days observed.
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Timepoint [2]
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Change from Baseline at 24 months
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Primary outcome [3]
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Use of anti-seizure medication(s)
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Assessment method [3]
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Measured using the incidence of anti-seizure medication usage observed during the 60 days leading up to each nominal visit.
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Timepoint [3]
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Baseline through Month 24
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Primary outcome [4]
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Use of Special Diet
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Assessment method [4]
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Measured using the incidence of ketogenic/high-fat diet usage observed during the 60 days leading up to each nominal visit.
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Timepoint [4]
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Change from Baseline at 24 months
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Primary outcome [5]
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Cognitive functioning
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Assessment method [5]
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Measured using composite scores from 3 domains in the Bayley Scales of Infant and Toddler Development (3rd Edition) instrument. Domains include: (1) Cognitive; (2) Language; (3) Motor.
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.
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Timepoint [5]
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Change from Baseline at 24 months
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Primary outcome [6]
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Behavioral and social functioning
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Assessment method [6]
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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
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Timepoint [6]
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Change from Baseline at 24 months
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Primary outcome [7]
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Motor functioning
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Assessment method [7]
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Measured using categorical outcomes of 7 motor items adapted from the Bayley Scales of Infant and Toddler Development instrument and NorthStar Ambulatory Assessment. Motor milestones include: (1) Sit unassisted for 30 seconds; (2) Walk with assistance; (3) Stand alone; (4) Walk alone; (5) Walk upstairs; (6) Run with Coordination; and (7)Jump forward.
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Timepoint [7]
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Baseline through Month 24
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Primary outcome [8]
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Incidence of Adverse Events
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Assessment method [8]
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Measured using the incidence of adverse events and serious adverse events (broken down by preferred term) observed during the study.
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Timepoint [8]
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Baseline through Month 24
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Primary outcome [9]
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Overall survival
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Assessment method [9]
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Measured using the incidence of death observed by a given time point during the study.
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Timepoint [9]
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Baseline through Month 24
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Eligibility
Key inclusion criteria
- Aged between 6 months and 60 months.
- 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.
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Minimum age
6
Months
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Maximum age
60
Months
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Sex
Both males and females
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Can healthy volunteers participate?
No
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Key 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 that is known to increase the severity of
the seizure phenotype.
- 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.
- Currently taking or has taken for 6 or more consecutive weeks anti-seizure medications
(ASMs) at a therapeutic dose that are contraindicated in SCN1A-positive Dravet
Syndrome, including sodium channel blockers.
- Known concomitant genetic mutation or clinical comorbidity that potentially confounds
typical Dravet phenotype.
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Study design
Purpose
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Duration
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Selection
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Timing
Prospective
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Statistical methods / analysis
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Recruitment
Recruitment status
Terminated
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Data analysis
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Reason for early stopping/withdrawal
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Other reasons
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Date of first participant enrolment
Anticipated
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Actual
18/01/2021
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Date of last participant enrolment
Anticipated
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Actual
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Date of last data collection
Anticipated
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Actual
31/03/2023
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Sample size
Target
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Accrual to date
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Final
58
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Recruitment in Australia
Recruitment state(s)
VIC
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Recruitment hospital [1]
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Austin Hospital - Melbourne Brain Centre - Heidelberg
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Recruitment postcode(s) [1]
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3084 - Heidelberg
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Recruitment outside Australia
Country [1]
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United States of America
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State/province [1]
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California
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Country [2]
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United States of America
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State/province [2]
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Colorado
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United States of America
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State/province [3]
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Florida
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Country [4]
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United States of America
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State/province [4]
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Illinois
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Country [5]
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United States of America
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State/province [5]
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New Jersey
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Country [6]
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United States of America
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State/province [6]
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Ohio
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Country [7]
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United States of America
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State/province [7]
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Oregon
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Country [8]
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United States of America
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State/province [8]
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Pennsylvania
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Country [9]
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United States of America
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State/province [9]
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Tennessee
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Country [10]
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United States of America
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State/province [10]
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Texas
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Country [11]
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United States of America
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State/province [11]
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Washington
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Country [12]
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Spain
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State/province [12]
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Barcelona
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Country [13]
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Spain
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State/province [13]
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Valencia
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Country [14]
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United Kingdom
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State/province [14]
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Glasgow
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Funding & Sponsors
Primary sponsor type
Commercial sector/Industry
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Name
Encoded Therapeutics
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Address
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Country
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Ethics approval
Ethics application status
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Summary
Brief summary
This is a multicenter, prospective, 2-year observational study in infants and children with
developmental and epileptic encephalopathies (DEEs). The DEE currently being investigated is
SCN1A-positive Dravet Syndrome.
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Trial website
https://clinicaltrials.gov/ct2/show/NCT04537832
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Trial related presentations / publications
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Public notes
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Contacts
Principal investigator
Name
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Salvador Rico, M.D., Ph.D
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Address
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Encoded Therapeutics
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Country
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Phone
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Fax
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Email
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Contact person for public queries
Name
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Address
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Country
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Phone
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Fax
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Email
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Contact person for scientific queries
Summary Results
For IPD and results data, please see
https://clinicaltrials.gov/ct2/show/NCT04537832
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