A Study to Examine the Natural History of Infants and Children with SCN1A-positive Dravet Syndrome

Overview

About this study

The purpose of this study is to characterize the phenotype of SCN1A-positive Dravet Syndrome in subjects aged 6 to 60 months, inclusive.

Participation eligibility

Participant eligibility includes age, gender, type and stage of disease, and previous treatments or health concerns. Guidelines differ from study to study, and identify who can or cannot participate. There is no guarantee that every individual who qualifies and wants to participate in a trial will be enrolled. Contact the study team to discuss study eligibility and potential participation.

Inclusion Criteria:

  • Age between 6 and 60 months.
  • Authorized representative (parent/caregiver) must be willing and able to give informed consent for participation in the study.
  • Authorized representative (parent/caregiver) must be able to read and understand the consent form which will be in English.
  • Subject and their parent/caregiver must be willing and able (in the Investigator’s opinion) to comply with all study requirements (including ability and willingness to comply with virtual visits).
  • Subject must be male or female aged between 6 months and 60 months, inclusive, at the time of consent.
  • Subject must have a confirmed SCN1A mutation, as demonstrated by genetic testing and enrollment will be decided by an Independent Adjudication Committee (IAC).
  • Normal development prior to onset of first seizure as defined by the Centers for Disease Control and Prevention (CDC 2019).
  • Onset of seizures, defined as first focal clonic/hemiclonic, generalized/focal tonic, generalized tonic-clonic/clonic, atonic/drop seizure, prolonged seizure, or status epilepticus, between age 3 and 15 months, inclusive, as confirmed by the IAC.
  • Parent/caregiver must have completed seizure diary training.

Exclusion Criteria:

  • Copy number variant of SCN1A, including SCN1A microdeletion, if affecting other genes as determined by the IAC.
  • SCN1A mutation present on both alleles.
  • Known pathogenic or clinically suspected mutation in a seizure-associated gene besides SCN1A, as determined by the IAC (including but not limited to SCN9A, CACNB4, etc.).
  • Confirmed mutation in a gene besides SCN1A, as determined by the IAC, that is known to increase the severity of the seizure phenotype.
  • Subject has a known gain-of-function mutation, as defined by functional studies, including: p.Thr226Met.
  • History of notable developmental deficit that was evident prior to seizure onset, by physician report.
  • Known central nervous system structural abnormality as found on magnetic resonance imaging or computed tomography scan of brain. Note: Prior scans may be used, and no new scan is required to confirm normal imaging.
  • Repeated or prolonged (> 6 consecutive weeks) exposure to anti-epileptic drugs (AEDs) that are contraindicated in SCN1A-positive Dravet Syndrome, including sodium channel blockers, if deemed by the IAC to have affected the subject.

 

Participating Mayo Clinic locations

Study statuses change often. Please contact the study team for the most up-to-date information regarding possible participation.

Mayo Clinic Location Status Contact

Rochester, Minn.

Mayo Clinic principal investigator

Katherine Nickels, M.D.

Open for enrollment

Contact information:

Vanessa Morrow

(507) 538-0266

Morrow.Vanessa@mayo.edu

More information

Publications

Publications are currently not available

Study Results Summary

Not yet available

Supplemental Study Information

Not yet available

.
CLS-20510896

Mayo Clinic Footer