NCT07372833

CAMK2-related Synapthopathies Natural History Study

Natural History Data of International Subjects With an ULTRA-Rare Neuro Developmental Disorder as Part of the ENCORE Expert Clinics, Specifically CAMK2A, CAMK2B, CAMK2D, and CAMK2G.

• Status: Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 150 (estimated)
• Sponsor: Erasmus Medical Center · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

Summary

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

• CAMK2
• Calcium/Calmodulin-dependent Protein Kinase 2

Interventions

Type	Name	Description
OTHER	No intervention	This is an observational study without interventions.

Timeline

• Start date: 2021-02-09
• Primary completion: 2040-01-01
• Completion: 2040-01-01
• First posted: 2026-01-28
• Last updated: 2026-01-28

Locations

1 site across 1 country: Netherlands