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Trial details imported from ClinicalTrials.gov

For full trial details, please see the original record at https://clinicaltrials.gov/study/NCT04537832




Registration number
NCT04537832
Ethics application status
Date submitted
21/08/2020
Date registered
3/09/2020

Titles & IDs
Public title
Natural History Study of Infants and Children With Developmental and Epileptic Encephalopathies
Scientific title
ENVISION: Natural History Study of Infants and Children With Developmental and Epileptic Encephalopathies
Secondary ID [1] 0 0
ETX-DS-001
Universal Trial Number (UTN)
Trial acronym
ENVISION
Linked study record

Health condition
Health condition(s) or problem(s) studied:
Dravet Syndrome 0 0
Condition category
Condition code
Neurological 0 0 0 0
Epilepsy

Intervention/exposure
Study type
Observational
Patient registry
Target follow-up duration
Target follow-up type
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
Intervention code [1] 0 0
Other interventions
Comparator / control treatment
Control group

Outcomes
Primary outcome [1] 0 0
Seizure burden
Timepoint [1] 0 0
Change from Baseline at 24 months
Primary outcome [2] 0 0
Seizure freedom
Timepoint [2] 0 0
Change from Baseline at 24 months
Primary outcome [3] 0 0
Use of anti-seizure medication(s)
Timepoint [3] 0 0
Baseline through Month 24
Primary outcome [4] 0 0
Use of Special Diet
Timepoint [4] 0 0
Change from Baseline at 24 months
Primary outcome [5] 0 0
Cognitive functioning
Timepoint [5] 0 0
Change from Baseline at 24 months
Primary outcome [6] 0 0
Behavioral and social functioning
Timepoint [6] 0 0
Change from Baseline at 24 months
Primary outcome [7] 0 0
Motor functioning
Timepoint [7] 0 0
Baseline through Month 24
Primary outcome [8] 0 0
Incidence of Adverse Events
Timepoint [8] 0 0
Baseline through Month 24
Primary outcome [9] 0 0
Overall survival
Timepoint [9] 0 0
Baseline through Month 24

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.
Minimum age
6 Months
Maximum age
60 Months
Sex
Both males and females
Can healthy volunteers participate?
No
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.

Study design
Purpose
Duration
Selection
Timing
Prospective
Statistical methods / analysis

Recruitment
Recruitment status
Stopped early
Data analysis
Reason for early stopping/withdrawal
Other reasons
Date of first participant enrolment
Anticipated
Actual
18/01/2021
Date of last participant enrolment
Anticipated
Actual
Date of last data collection
Anticipated
Actual
31/03/2023
Sample size
Target
Accrual to date
Final
58
Recruitment in Australia
Recruitment state(s)
VIC
Recruitment hospital [1] 0 0
Austin Hospital - Melbourne Brain Centre - Heidelberg
Recruitment postcode(s) [1] 0 0
3084 - Heidelberg
Recruitment outside Australia
Country [1] 0 0
United States of America
State/province [1] 0 0
California
Country [2] 0 0
United States of America
State/province [2] 0 0
Colorado
Country [3] 0 0
United States of America
State/province [3] 0 0
Florida
Country [4] 0 0
United States of America
State/province [4] 0 0
Illinois
Country [5] 0 0
United States of America
State/province [5] 0 0
New Jersey
Country [6] 0 0
United States of America
State/province [6] 0 0
Ohio
Country [7] 0 0
United States of America
State/province [7] 0 0
Oregon
Country [8] 0 0
United States of America
State/province [8] 0 0
Pennsylvania
Country [9] 0 0
United States of America
State/province [9] 0 0
Tennessee
Country [10] 0 0
United States of America
State/province [10] 0 0
Texas
Country [11] 0 0
United States of America
State/province [11] 0 0
Washington
Country [12] 0 0
Spain
State/province [12] 0 0
Barcelona
Country [13] 0 0
Spain
State/province [13] 0 0
Valencia
Country [14] 0 0
United Kingdom
State/province [14] 0 0
Glasgow

Funding & Sponsors
Primary sponsor type
Commercial sector/industry
Name
Encoded Therapeutics
Address
Country

Ethics approval
Ethics application status

Summary
Brief summary
Trial website
Trial related presentations / publications
Public notes

Contacts
Principal investigator
Name 0 0
Salvador Rico, M.D., Ph.D
Address 0 0
Encoded Therapeutics
Country 0 0
Phone 0 0
Fax 0 0
Email 0 0
Contact person for public queries
Name 0 0
Address 0 0
Country 0 0
Phone 0 0
Fax 0 0
Email 0 0
Contact person for scientific queries

Data sharing statement
Will individual participant data (IPD) for this trial be available (including data dictionaries)?
Undecided
No/undecided IPD sharing reason/comment
Plan is undecided


What supporting documents are/will be available?

No Supporting Document Provided



Results publications and other study-related documents

No documents have been uploaded by study researchers.


Results not provided in https://clinicaltrials.gov/study/NCT04537832