SCN2A Natural History Study

Natural history studies aim to evaluate how a condition affects people over time. The SCN2A Natural History Study aims to learn more about the different SCN2A-related disorders, including how seizures, development, and other features change over time. This information is important for understanding how symptoms will progress in different individuals, how we can best use existing treatments, and how to design future clinical trials.

 

Who is running the study?

This is an international study being led by Dr Katherine Howell at the Murdoch Children’s Research Institute and the Royal Children’s Hospital, Melbourne, Australia.

 

Who is eligible to participate in the study?

People with SCN2A-related conditions of any age from all countries are eligible and encouraged to participate. We anticipate that over 200 people will take part. Since the study began in 2019, nearly 100 people have consented to participate.

 

What does participation in the study involve?

During this study, we collect information about your child from their doctors and medical records, and from you directly (online and by video or phone call). You do not need to visit a study doctor’s office to participate. Information will be collected when you enter the study, and at yearly intervals after that.

 

How do I participate?

Families Form

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).