Actively Recruiting
CAMK2-related Synapthopathies Natural History Study
Led by Erasmus Medical Center · Updated on 2026-01-28
150
Participants Needed
1
Research Sites
985 weeks
Total Duration
On this page
AI-Summary
What this Trial Is 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.
CONDITIONS
Official Title
CAMK2-related Synapthopathies Natural History Study
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Subject with a (likely) pathogenic variation in one of the CAMK2 genes
- Consent for anonymous registration in an (inter)national database
You will not qualify if you...
- Subjects with a Variant of Unknown Significance (VUS); in those cases functional analysis should be performed first.
AI-Screening
AI-Powered Screening
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Trial Site Locations
Total: 1 location
1
Erasmus MC
Rotterdam, South Holland, Netherlands, 3015 GD
Actively Recruiting
Research Team
D
Danielle CM Veenma, MD PhD
CONTACT
A
Anjuli L Dijkmans, MD
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
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