SCN2A Natural History Study Protocol Overview

This is an international, longitudinal study to evaluate the natural history and phenotype-genotype correlations of SCN2A-related conditions. The study is being run by Dr Katherine Howell at the Murdoch Children’s Research Institute and the Royal Children’s Hospital in Melbourne, Australia.

 

Study objectives

  • Understand the natural history of SCN2A-related disorders, including evolution of seizures, development, and other features over time
  • Determine phenotype-genotype-molecular correlations in SCN2A-related disorders
  • Determine early markers of prognosis for seizure and developmental outcome
  • Understand the differential responses to currently available treatments, particularly sodium channel blockers
  • Inform design of future clinical trials for SCN2A-related disorders

Eligibility

  • Individuals of any age and residing in any country are eligible
  • Inclusion criteria:
    • Pathogenic/likely pathogenic SCN2A variant
    • Neurodevelopmental disorder characterized by:
      • A current or previous diagnosis of epilepsy and/or
      • Developmental delay/regression and/or
      • Autism and/or
      • Other neurologic symptoms (eg, episodic ataxia)
  • Exclusion criteria:
    • Co-existent diagnosis of an acquired or genetic disorder which could independently contribute to neurodevelopmental symptoms
    • Unable to obtain adequate hospital/physician medical records

Study assessments

Assessments performed at baseline and at yearly follow-ups will include:

  • Parent questionnaire done partly online (written) and partly by video/phone call
  • Review of medical records including EEG recordings and brain imaging, provided by the participant’s clinician
  • Assessment of function/development using Vineland Adaptive Behavioral Scale parent/caregiver form (online)
  • Seizure diary to be completed for at least 3 months of the year

 

Dr Katherine Howell

Dr Katherine Howell is the principal researcher for the International SCN2A Natural History Study. She is a Clinician-Scientist Fellow and the Epilepsy Team Leader at the Murdoch Children’s Research Institute, a pediatric neurologist and epileptologist at the Royal Children’s Hospital, an honorary senior fellow at the University of Melbourne and an honorary senior research fellow at the Florey Institute of Neuroscience and Mental Health, in Melbourne, Australia.

Her research and clinical work is focused on severe, early-life epilepsies. Current areas of major focus include infantile spasms and SCN2A-related disorders.

Her research is supported by Praxis Precision Medicines and the Australian Government’s National Health and Medical Research Council and Medical Research Future Fund (MRFF).

Dr Katherine Howell

Dr Katherine Howell is the principal researcher for the International SCN2A Natural History Study. She is a Clinician-Scientist Fellow and the Epilepsy Team Leader at the Murdoch Children’s Research Institute, a pediatric neurologist and epileptologist at the Royal Children’s Hospital, an honorary senior fellow at the University of Melbourne and an honorary senior research fellow at the Florey Institute of Neuroscience and Mental Health, in Melbourne, Australia.

Her research and clinical work is focused on severe, early-life epilepsies. Current areas of major focus include infantile spasms and SCN2A-related disorders.

Her research is supported by Praxis Precision Medicines and the Australian Government’s National Health and Medical Research Council and Medical Research Future Fund (MRFF).

Refer Patient

Help us learn more about SCN2A by referring patients to participate in the SCN2A Natural History Study