The IBIS study: Infant motor development as an early Biomarker in children with SCN1A gene mutation - a pilot project

Recruiting

• Conditions: developmental delay; Dravet syndrome; Epilepsy; 10029299; 10039911

• Registration Number: NL-OMON51547
• Lead Sponsor: niversitair Medisch Centrum Groningen

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Last Update Posted: 18 June 2024

Recruitment & Eligibility

• Status: Recruiting
• Sex: Not specified
• Target Recruitment: 24

Inclusion Criteria

- Age 2 years of less at time of inclusion
- Presented with seizures in the first two years of life and have an (likely)
pathogenic SCN1A gene variant
- Caregivers have sufficient understanding of the Dutch or English language to
give informed consent

Exclusion Criteria

- Caregivers having insufficient understanding of the Dutch or English language
- Diagnosis of cerebral palsy (CP) or other neuromotor condition affecting
motor development in addition to the SCN1A mutation

Study & Design

• Study Type: Observational non invasive
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>Main study parameters/endpoints: Primary assessment tool is the Infant Motor<br /><br>Profile (IMP), a qualitative method to assess motor development in infancy. </p><br>

Secondary Outcome Measures

Name	Time	Method
<p>Secondary parameters are the scores on the Bayley Scales of Infant and Toddler<br /><br>Development, third edition (Bayley-III-NL) and the genetic data on the specific<br /><br>SCN1A mutation type. </p><br>