Natural History Study of Infants and Children With SCN1A-positive Dravet Syndrome

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Brief Title

Natural History Study of Infants and Children With SCN1A-positive Dravet Syndrome

Official Title

ENVISION: Natural History Study of Infants and Children With SCN1A-positive Dravet Syndrome

Brief Summary

      This is a multicenter, prospective, up to 2-year observational study in participants aged 6
      to 60 months, inclusive, with SCN1A-positive Dravet Syndrome.
    

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, inclusive, with SCN1A mutations. The study will examine these
      characteristics for up to 2 years using standardized assessments and will also explore the
      impact of the disease on parents/caregivers and health care resource utilization (HCRU).
    


Study Type

Observational


Primary Outcome

Seizure burden


Condition

Dravet Syndrome

Intervention

No Intervention

Study Arms / Comparison Groups

 Group 1
Description:  Participants from 6 through 60 months of age, inclusive at the time of enrollment, who have SCN1A+ Dravet Syndrome. Clinical, neurocognitive, laboratory, the burden of disease, and health care resource utilization will be assessed.

Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information


Recruitment Status

Other

Estimated Enrollment

50

Start Date

January 18, 2021

Completion Date

June 25, 2024

Primary Completion Date

June 25, 2024

Eligibility 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.

          -  Participant 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.

          -  Participant is 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.
      

Gender

All

Ages

6 Months - 60 Months

Accepts Healthy Volunteers

No

Contacts

Salvador Rico, M.D., Ph.D, +1 (650) 398-4301, [email protected]

Location Countries

Australia

Location Countries

Australia

Administrative Informations


NCT ID

NCT04537832

Organization ID

ETX-DS-001


Responsible Party

Sponsor

Study Sponsor

Encoded Therapeutics


Study Sponsor

Salvador Rico, M.D., Ph.D, Study Director, Encoded Therapeutics


Verification Date

December 2021