KDM2B and the epigenetic machinery: an iPSC-derived model of a novel neurodevelopmental syndrome

KDM2B and the epigenetic machinery: an iPSC-derived model of a novel neurodevelopmental syndrome - KDM2B disorder

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON51708

Enrollment

Registered

2022-11-08

Start date

2023-01-30

Completion date

Unknown

Last updated

2025-09-29

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

Conditions

KDM2B-associated syndrome KDM2B-related disorder

Interventions

None listed

Eligibility

Age

2 Years to 99 Years

Inclusion criteria

Inclusion criteria: a variant in the KDM2B gene OR having a child with a KDM2B variant who has been included in the study for skin biopsy

Exclusion criteria

Exclusion criteria: If the subject or legal caretakers are unable to provide consent Severe bleeding disorder expected to lead to a complicated skin biopsy Known allergy to all available local anaesthetics

Design outcomes

Primary

Measure	Time frame
This is a fundamental research study without clear defined end-points where we aim to develop an in vitro cell model of the KDM2B syndrome.	—

Secondary

Measure	Time frame
Inclusion of 15 patients and their clinical data entered in Castor, 6 skin biopsies, 5 successfully reprogrammed iPSC, 3 successful differentiation to neurons, 3 generated isogenic controls.	—

Countries

Netherlands

Outcome results