Trial Review

Registering a new trial?

To achieve prospective registration, we recommend submitting your trial for registration at the same time as ethics submission.

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been endorsed by the ANZCTR. Before participating in a study, talk to your health care provider and refer to this information for consumers
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
Date last updated
12/06/2023

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
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.
Trial website
https://clinicaltrials.gov/study/NCT04537832
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



Summary Results

For IPD and results data, please see https://clinicaltrials.gov/study/NCT04537832