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.
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).
Study Type
OBSERVATIONAL
Enrollment
58
No Intervention
Children's Hospital Los Angeles
Los Angeles, California, United States
UCSF Benioff Children's Hospital
San Francisco, California, United States
Seizure burden
Measured using monthly seizure frequency derived from seizure diaries.
Time frame: Change from Baseline at 24 months
Seizure freedom
Measured using the proportion of seizure-free days observed.
Time frame: Change from Baseline at 24 months
Use of anti-seizure medication(s)
Measured using the incidence of anti-seizure medication usage observed during the 60 days leading up to each nominal visit.
Time frame: Baseline through Month 24
Use of Special Diet
Measured using the incidence of ketogenic/high-fat diet usage observed during the 60 days leading up to each nominal visit.
Time frame: Change from Baseline at 24 months
Cognitive functioning
Measured using composite scores from 3 domains in the Bayley Scales of Infant and Toddler Development (3rd Edition) instrument. Domains include: (1) Cognitive; (2) Language; (3) Motor. Composite scores are normalized to a mean and SD of 100 and 15, respectively (range is not applicable as the scores are unbounded). Higher scores correspond to better outcomes compared to a normal population.
Time frame: Change from Baseline at 24 months
Behavioral and social functioning
Measured using raw scores from 2 domains in the Brief Infant Toddler Social Emotional Assessment. Domains include: (1) Problem; and (2) Competence. Domain raw scores range from 31 to 93 and 11 to 33 for the Problem and Competence domains, respectively. Higher Problem scores correspond to worse outcomes. Higher Competence scores correspond to better outcomes
Time frame: Change from Baseline at 24 months
Motor functioning
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Children's Hospital Colorado
Aurora, Colorado, United States
Nicklaus Children's Hospital
Miami, Florida, United States
Ann and Robert H. Lurie Children's Hospital of Chicago
Chicago, Illinois, United States
Northeast Regional Epilepsy Group
Hackensack, New Jersey, United States
Abigail Wexner Research Institute at Nationwide Children's Hospital
Columbus, Ohio, United States
Oregon Health and Science University
Portland, Oregon, United States
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, United States
Le Bonheur Children's Hospital
Memphis, Tennessee, United States
...and 6 more locations
Measured using categorical outcomes of 7 motor items adapted from the Bayley Scales of Infant and Toddler Development instrument and NorthStar Ambulatory Assessment. Motor milestones include: (1) Sit unassisted for 30 seconds; (2) Walk with assistance; (3) Stand alone; (4) Walk alone; (5) Walk upstairs; (6) Run with Coordination; and (7)Jump forward.
Time frame: Baseline through Month 24
Incidence of Adverse Events
Measured using the incidence of adverse events and serious adverse events (broken down by preferred term) observed during the study.
Time frame: Baseline through Month 24
Overall survival
Measured using the incidence of death observed by a given time point during the study.
Time frame: Baseline through Month 24