Data collection Kleefstra syndrome

Retrospective collection of medical data, residual human material and imaging for research on the natural history of Kleefstra syndrome - Data collection Kleefstra syndrome

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON58366

Enrollment

100

Registered

2026-01-23

Start date

2026-01-01

Completion date

Unknown

Last updated

2026-03-16

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

Conditions

9q34.3-deletion syndrome Congenital genetic disorder

Interventions

n.a.

Eligibility

Age

2 Years to 64 Years

Inclusion criteria

Inclusion criteria: Diagnosed with Kleefstra syndrome (pathogenic variant in or (partial) deletion of the EHMT1 gene)

Exclusion criteria

Exclusion criteria: Diagnosed with another genetic disorder

Design outcomes

Primary

Measure	Time frame
To study the natural course of different parameters.	—

Secondary

Measure	Time frame
n.a.	—

Countries

Netherlands

Contacts

Public ContactBM Graaf

Erasmus MC, Universitair Medisch Centrum Rotterdam

b.degraaf@erasmusmc.nl0107034004

Outcome results

None listed

Source: NL-OMON (via WHO ICTRP) · Data processed: Mar 20, 2026