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

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

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON51547

Enrollment

Registered

2022-08-05

Start date

2023-05-01

Completion date

Unknown

Last updated

2024-06-18

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

developmental delay Dravet syndrome Epilepsy

Interventions

None listed

Eligibility

Age

No minimum to 11 Years

Inclusion criteria

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

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

Design outcomes

Primary

Measure	Time frame
Main study parameters/endpoints: Primary assessment tool is the Infant Motor Profile (IMP), a qualitative method to assess motor development in infancy.	—

Secondary

Measure	Time frame
Secondary parameters are the scores on the Bayley Scales of Infant and Toddler Development, third edition (Bayley-III-NL) and the genetic data on the specific SCN1A mutation type.	—

Countries

Netherlands

Outcome results