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 Developmental and Epileptic Encephalopathies

Official Title

ENVISION: Natural History Study of Infants and Children With Developmental and Epileptic Encephalopathies

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.
    

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 Type

Observational


Primary Outcome

Seizure burden


Condition

Dravet Syndrome

Intervention

No Intervention

Study Arms / Comparison Groups

 SCN1A-positive Dravet Syndrome
Description:  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.

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

58

Start Date

January 18, 2021

Completion Date

March 2024

Primary Completion Date

March 2024

Eligibility Criteria

        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.

        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.
      

Gender

All

Ages

6 Months - 60 Months

Accepts Healthy Volunteers

No

Contacts

Salvador Rico, M.D., Ph.D, , 

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

May 2022