CAMK2-related Synapthopathies Natural History Study

Erasmus University

Status: Enrolling

Conditions: CAMK2; Calcium/Calmodulin-dependent Protein Kinase 2

Treatments: Other: No intervention

Study type: Observational

Funder types: Other

Identifiers

NCT07372833

MEC-2021-0099

Details and patient eligibility

About

The key endpoint for this prospective cohort study is:

Mapping of the disease course of all known patients (both children and adults, international) with a CAMK2 mutation, for which ENCORE has founded an expert clinic, and therefore has a substantial and active neuroscientific research arm combined with tertiary academic clinical care delivery for those living in the Netherlands.

Such robust clinical maps can subsequently be used for genotype-phenotype correlations and, identify clinically relevant outcome measures for prognostication, improvement of care delivery & future clinical trials. Additionally, it will most likely generate new research questions for basic scientists who are trying to unravel the specific mechanisms of disease pathophysiology.

Enrollment: 150 estimated patients

Sex: All

Volunteers: No Healthy Volunteers

Inclusion criteria

• Subject with a (likely) pathogenic variation in one of the CAMK2 genes
• Consent for anonymous registration in an (inter)national database

Exclusion criteria

- Subjects with a Variant of Unknown Significance (VUS); in those cases functional analysis should be performed first.

Trial design

150 participants in 1 patient group

CAMK2 mutation

Description:

Patients with a mutation in the CAMK2A, CAMK2B, CAMK2D and CAMK2G gene.

Treatment:

Other: No intervention