Dravet SyndromeENVISIONNCT04537832
Natural History Study of Infants and Children With Developmental and Epileptic Encephalopathies
An observational study of Dravet Syndrome, run by Encoded Therapeutics at 16 sites in 4 countries.
Trial 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. Read more about this study
- Who is it for?
- Ages 6 to 60 months
- Conditions the study is for
- Dravet Syndrome
- How many people
- 58 participants
- Where
- 16 sitesin 4 countries
- Study dates
- 18 Jan 2021to 31 Mar 2023
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 6 to 60 months
- All sexes
- No healthy volunteers
- Child
Study population: Infants and children aged between 6 and 60 months with SCN1A-positive Dravet Syndrome.
Who may be able to join
- 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.
Who cannot join
- 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.
Show all 9Show fewer
- 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.
Trial locations and contacts
16 sites in 4 countries.
16 sites in 4 countries
United States12 sites
Children's Hospital Colorado
Aurora, Colorado, 80045
Ann and Robert H. Lurie Children's Hospital of Chicago
Chicago, Illinois, 60611
Abigail Wexner Research Institute at Nationwide Children's Hospital
Columbus, Ohio, 43205
Cook Children's Medical Center
Fort Worth, Texas, 76104
Northeast Regional Epilepsy Group
Hackensack, New Jersey, 07601
Children's Hospital Los Angeles
Los Angeles, California, 90027
Le Bonheur Children's Hospital
Memphis, Tennessee, 38103
Nicklaus Children's Hospital
Miami, Florida, 33155
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, 19104
Oregon Health and Science University
Portland, Oregon, 97239
UCSF Benioff Children's Hospital
San Francisco, California, 94143
Multicare Institute for Research and Innovation
Tacoma, Washington, 98405
Spain2 sites
Hospital de la Santa Creu i Sant Pau
Barcelona
Hospital Universitari i Politècnic La Fe
Valencia
Australia1 site
Austin Hospital - Melbourne Brain Centre
Heidelberg, Victoria, 3084
About this study
Official title: ENVISION: Natural History Study of Infants and Children With Developmental and Epileptic Encephalopathies
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.
Read the detailed description
This prospective, longitudinal, natural history master protocol has been designed to define the seizure, neurodevelopmental, and behavioral characteristics of SCN1A-positive Dravet Syndrome in infants and children between 6 and 60 months. It will also explore the impact of the disease on the participant's parent/caregiver quality of life (QoL) and healthcare resource utilization (HCRU).
- Conditions
- Dravet Syndrome
- Being tested
- No Intervention
- Keywords
- severe myoclonic epilepsy, epilepsy, severe myoclonic epilepsy of infancy, SMEI, SCN1A related seizure disorder, epileptic encephalopathy, developmental and epileptic encephalopathies, DEE
- Medical subject headings
- Epilepsies, Myoclonic, Epilepsy
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
No InterventionOther
No Intervention
| Study group | Role | What they receive |
|---|---|---|
| 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. Receives: Other: No Intervention |
What is being measured
The primary outcome is the main question the study is designed to answer.
Seizure burden
Measured using monthly seizure frequency derived from seizure diaries.
Measured: Change from Baseline at 24 months
Seizure freedom
Measured using the proportion of seizure-free days observed.
Measured: Change from Baseline at 24 months
Use of anti-seizure medication(s)
Measured using the incidence of anti-seizure medication usage observed during the 60 days leading up to each nominal visit.
Measured: Baseline through Month 24
Use of Special Diet
Measured using the incidence of ketogenic/high-fat diet usage observed during the 60 days leading up to each nominal visit.
Measured: Change from Baseline at 24 months
Cognitive functioning
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.
Measured: Change from Baseline at 24 months
Behavioral and social functioning
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
Measured: Change from Baseline at 24 months
Motor functioning
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.
Measured: Baseline through Month 24
Incidence of Adverse Events
Measured using the incidence of adverse events and serious adverse events (broken down by preferred term) observed during the study.
Measured: Baseline through Month 24
Overall survival
Measured using the incidence of death observed by a given time point during the study.
Measured: Baseline through Month 24
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted3 Sep 2020
- Study start18 Jan 2021
- Primary completion31 Mar 2023
- Study completion31 Mar 2023
Why it stopped: The ENVISION study has generated a robust data set that shows consistency in the seizure and non-seizure manifestations of SCN1A+ Dravet syndrome.
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Dravet SyndromeStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 58 participants (actual)
Sponsor and investigators
- Lead sponsor
- Encoded Therapeutics
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Salvador Rico, M.D., Ph.D, Study director, Encoded Therapeutics
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04537832
- Sponsor's protocol ID
- ETX-DS-001
- Acronym
- ENVISION
- Status last verified
- Jun 2023
- First submitted
- 21 Aug 2020
- Last updated
- 12 Jun 2023
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided: Plan is undecided
Study at a glance
From the registry record, last updated by the sponsor on 12 Jun 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- ENVISION: Natural History Study of Infants and Children With Developmental and Epileptic Encephalopathies
- ClinicalTrials.gov ID
- NCT04537832
- Acronym / sponsor ID
- ENVISION / ETX-DS-001
- Conditions
- Dravet Syndrome
- Keywords
- severe myoclonic epilepsy, epilepsy, severe myoclonic epilepsy of infancy, SMEI, SCN1A related seizure disorder, epileptic encephalopathy, developmental and epileptic encephalopathies, DEE
- Study type
- Observational
- Recruitment status
- TerminatedReason stopped: The ENVISION study has generated a robust data set that shows consistency in the seizure and non-seizure manifestations of SCN1A+ Dravet syndrome.
- Enrolment
- 58 participants (actual)
- Lead sponsor
- Encoded TherapeuticsIndustry (pharma, biotech, devices)
- Study start
- 18 Jan 2021 (actual)
- Primary completion
- 31 Mar 2023 (actual)
- Study completion
- 31 Mar 2023 (actual)
- First posted
- 3 Sep 2020 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
This prospective, longitudinal, natural history master protocol has been designed to define the seizure, neurodevelopmental, and behavioral characteristics of SCN1A-positive Dravet Syndrome in infants and children between 6 and 60 months. It will also explore the impact of the disease on the participant's parent/caregiver quality of life (QoL) and healthcare resource utilization (HCRU).
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| SCN1A-positive Dravet Syndrome | – | Other: No InterventionParticipants 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. |
Who may qualify
- Ages
- 6 to 60 months
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
- Study population
- Infants and children aged between 6 and 60 months with SCN1A-positive Dravet Syndrome.
Key inclusion criteria (4 listed)
- 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.
Key exclusion criteria (9 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| No InterventionNo Intervention | Other | SCN1A-positive Dravet Syndrome |
Primary outcome
Seizure burden
Time frame: Change from Baseline at 24 months
Measured using monthly seizure frequency derived from seizure diaries.
Seizure freedom
Time frame: Change from Baseline at 24 months
Measured using the proportion of seizure-free days observed.
Use of anti-seizure medication(s)
Time frame: Baseline through Month 24
Measured using the incidence of anti-seizure medication usage observed during the 60 days leading up to each nominal visit.
Use of Special Diet
Time frame: Change from Baseline at 24 months
Measured using the incidence of ketogenic/high-fat diet usage observed during the 60 days leading up to each nominal visit.
Cognitive functioning
Time frame: Change from Baseline at 24 months
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.
Behavioral and social functioning
Time frame: Change from Baseline at 24 months
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
Motor functioning
Time frame: Baseline through Month 24
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.
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 during the study.
Overall survival
Time frame: Baseline through Month 24
Measured using the incidence of death observed by a given time point during the study.
Results and safety
The study was stopped early (reason given: The ENVISION study has generated a robust data set that shows consistency in the seizure and non-seizure manifestations of SCN1A+ Dravet syndrome.). Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 12 Jun 2023.
- Individual participant dataSharing planned: Undecided. Plan is undecided
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Salvador Rico, M.D., Ph.D study director
Encoded Therapeutics
16 sites in 4 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Dravet Syndrome, run by Encoded Therapeutics at 16 sites in 4 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 9 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: stopped early, as of the sponsor's last update on 12 Jun 2023. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 16 sites in United States, Spain, Australia, United Kingdom. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study was stopped early (reason given: The ENVISION study has generated a robust data set that shows consistency in the seizure and non-seizure manifestations of SCN1A+ Dravet syndrome.). Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Seizure burden (time frame: Change from Baseline at 24 months). The study lists 9 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 12 Jun 2023.