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CAMK2-related Synapthopathies Natural History Study

NCT07372833 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 150

Last updated 2026-01-28

No results posted yet for this study

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

OTHER

No intervention

This is an observational study without interventions.

Sponsors & Collaborators

Principal Investigators

  • Danielle CM Veenma, MD PhD · Erasmus Medical Center

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2021-02-09
Primary Completion
2040-01-01
Completion
2040-01-01

Countries

  • Netherlands

Study Locations

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Entities

Companies

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT07372833 on ClinicalTrials.gov