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

E

Encoded Therapeutics

Status

Terminated

Conditions

Dravet Syndrome

Treatments

Other: No Intervention

Study type

Observational

Funder types

Industry

Identifiers

NCT04537832
ETX-DS-001

Details and patient eligibility

About

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.

Full 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).

Enrollment

58 patients

Sex

All

Ages

6 to 60 months old

Volunteers

No Healthy Volunteers

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.

Trial design

58 participants in 1 patient group

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.
Treatment:
Other: No Intervention

Trial contacts and locations

16

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Data sourced from clinicaltrials.gov

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