Natural history of CAMK2-related synaptopathies
Official title: 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.
Run by Erasmus Medical Center · NCT07372833 · Data updated 2026-11-12
This project will map how symptoms develop over time in children and adults who have a pathogenic CAMK2 gene variant to identify patterns and useful outcome measures.
Quick facts
| Study type | Observational |
|---|---|
| Sex | All |
| Enrollment | 150 (estimated) |
| Sponsor | Erasmus Medical Center Academic / other |
| Locations | 1 site (Rotterdam, South Holland) |
| Status | Recruiting |
| Started | February 9, 2021 |
| Main results expected | January 1, 2040 |
| Study ends | January 1, 2040 |
| Registry record updated | January 28, 2026 |
| Trial ID | NCT07372833 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
People of any age with a pathogenic or likely pathogenic variant in a CAMK2 gene who consent to anonymous registration in the database are eligible.
✕Probably not a fit
Individuals with only a variant of unknown significance (VUS) without supporting functional analysis and those seeking an experimental treatment are unlikely to gain direct therapeutic benefit from participation.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This prospective cohort will enroll children and adults with pathogenic or likely pathogenic CAMK2 variants and collect longitudinal clinical data through the ENCORE expert clinic and an (inter)national registry. Standardized neurological, developmental, and functional measures will be recorded at baseline and follow-up visits to chart symptom onset, severity, and progression. The assembled dataset will be used to perform genotype–phenotype correlations and to identify clinically meaningful outcome measures for prognostication and future clinical trials. Participation is coordinated from Erasmus MC in Rotterdam with options for remote registry entry for international participants.
Why it matters
Potential benefit: If successful, the project could improve prognostic information, guide clinical care, and define outcome measures needed for future CAMK2-targeted trials.
How similar studies have gone: Similar natural-history programs for other rare neurodevelopmental genetic disorders have successfully defined disease progression and outcome measures, but CAMK2-specific longitudinal data remain limited.
Who can join: the full rules
Show full inclusion / exclusion 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 first.
Where it's running
-
Erasmus MC
Rotterdam, South Holland, Netherlands Recruiting
Study contacts
- Principal investigator: Danielle CM Veenma, MD PhD — Erasmus Medical Center
- Study coordinator: Danielle CM Veenma, MD PhD
- Email: camk2disorders@erasmusmc.nl
- Phone: 010-7037815
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.