Tackling defective epigenetic assembly in psychopathology: Towards personalized intervention in Kleefstra syndrome

Tackling defective epigenetic assembly in psychopathology: Towards personalized intervention in Kleefstra syndrome - Tackling the disordered brain in Kleefstra syndrome

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON45876

Enrollment

Registered

2019-01-22

Start date

2019-04-12

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

psychoses

Interventions

None listed

Eligibility

Age

12 Years to 99 Years

Inclusion criteria

Inclusion criteria: - Confirmed molecular diagnoses of Kleefstra syndrome (EHMT1 mutation of small 9q34 deletion,

Exclusion criteria

Exclusion criteria: - age below 12 years - no confirmed diagnoses of Kleefstra syndrome - long QT syndrome

Design outcomes

Primary

Measure	Time frame
The primary outcome of the present study will be the differences between treated and non-treated groups in regression (individual % reduction in adaptive functioning based on raw VABS score), to study if there is any benefit from early detection and subsequent treatment of olanzapine. All data will be collected in the GCP-certified data monitoring system Castor. Castor facilitates multicentre, international studies and gives the opportunity for data collection at each site. As main researchers we will be able to see all data and perform the analyses. To make sure that all data are collected according to good clinical practice criteria, all sites participating in this study will be visited and monitored by a certified person of our team.	—

Measure

Time frame

The primary outcome of the present study will be the differences between treated and non-treated groups in regression (individual % reduction in adaptive functioning based on raw VABS score), to study if there is any benefit from early detection and subsequent treatment of olanzapine. All data will be collected in the GCP-certified data monitoring system Castor. Castor facilitates multicentre, international studies and gives the opportunity for data collection at each site. As main researchers we will be able to see all data and perform the analyses. To make sure that all data are collected according to good clinical practice criteria, all sites participating in this study will be visited and monitored by a certified person of our team.

—

Secondary

Measure	Time frame
Secondary outcomes comprise detailed knowledge on the window of treatment opportunity to influence regression and association of urinary markers with symptom severity. Furthuremore, I will use the mini PAS ADD and PANSS scores to obtain knowledge of the course of PD, presence of comorbid psychopathology and evaluate treatment response in terms of severity and duration of the PD.	—

Countries

Netherlands

Outcome results