Collection of biomaterial for iPSCs to study the molecular mechanisms underlying monogenic epilepsies

Collection of biomaterial for iPSCs to study the molecular mechanisms underlying monogenic epilepsies - Epilepsy disease modelling study

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON57349

Enrollment

Registered

2025-03-11

Start date

2024-07-01

Completion date

Unknown

Last updated

2026-06-22

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

Conditions

Monogenic epilepsy seizures

Interventions

None listed

Eligibility

Age

No minimum to 64 Years

Inclusion criteria

Inclusion criteria: Written informed consent (IC) to participate in this study Having a (likely) pathogenic variant in an epilepsy gene, such as SCN1A, CHD2, TSC2, RHEB, or MTOR, where properties and functions of the encoded protein are likely to be affected resulting in an epilepsy syndrome. Medication use (including both patients with seizure-freedom following medication and patients with drug resistant epilepsy, and responders and non-responders from the CBD study)

Exclusion criteria

Exclusion criteria: Subjects who do not meet the inclusion criteria Subjects with epilepsy that does not have a monogenic cause

Design outcomes

Primary

Measure	Time frame
The main study parameter is the differences in tissue architecture, cellular function and MEA phenotypes, including baseline phenotypes and responses to ASMs or other treatments, between patient and healthy control neurons/neuronal organoids.	—

Secondary

Measure	Time frame
n.v.t.	—

Countries

Netherlands

Outcome results