CAMK2-related Synapthopathies Natural History Study

Recruiting now

Conditions studied: CAMK2, Calcium/Calmodulin-dependent Protein Kinase 2

In brief

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.

Key facts

Study ID

NCT07372833

Run by

Erasmus Medical Center

People needed

150

Starts

2021-02-09

Expected to finish

2040-01-01

Last updated by the study team

2026-01-28

Who can join

Age: any. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

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

You may not qualify if…

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

Where it is running

• Erasmus MC — Rotterdam, South Holland, Netherlands (enrolling)

Full record on ClinicalTrials.gov

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