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

Launched by ENCODED THERAPEUTICS · Sep 1, 2020

Keywords

ClinConnect Summary

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).

Gender

ALL

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.