CAMK2-related Synapthopathies Natural History Study
Recruiting
Observational Study
CAMK2
Calcium/Calmodulin-dependent Protein Kinase 2
No Placebo Group
Every participant receives an active treatment — no one gets a placebo.
No Study Drug
Researchers observe your health over time — no experimental treatment is given.
At a Glance
- Sex
- Any
- Study type
- Observational
- Participants needed
- 150 (estimated)
- Sponsor
- Erasmus Medical Center · Other
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About This Trial
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 cli…
Trial Locations
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Eligibility Criteria
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 fir…
Contacts