CAMK2NCT07372833
CAMK2-related Synapthopathies Natural History Study
An observational study of CAMK2 and Calcium/Calmodulin-dependent Protein Kinase 2, run by Erasmus Medical Center at 1 site in Netherlands.
Trial 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… Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- CAMK2, Calcium/Calmodulin-dependent Protein Kinase 2
- How many people
- 150 participants
- Where
- 1 siteNetherlands
- Study dates
- 9 Feb 2021to 1 Jan 2040
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: National and international children and adults with a (likely) pathogenic variation in one of the CAMK2 genes.
Who may be able to join
- Subject with a (likely) pathogenic variation in one of the CAMK2 genes
- Consent for anonymous registration in an (inter)national database
Who cannot join
- Subjects with a Variant of Unknown Significance (VUS); in those cases functional analysis should be performed first.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Anjuli L Dijkmans, MD contact
Netherlands1 site, 1 recruiting
- Recruiting
Erasmus MC
Rotterdam, South Holland, 3015 GD
Danielle CM Veenma, MD PhD, 010-7037815, camk2disorders@erasmusmc.nl
About this study
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.
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.
- Being tested
- No intervention
- Keywords
- CAMK2, Calcium/calmodulin-dependent protein kinase 2
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
No interventionOther
This is an observational study without interventions.
| Study group | Role | What they receive |
|---|---|---|
| CAMK2 mutation | Patients with a mutation in the CAMK2A, CAMK2B, CAMK2D and CAMK2G gene. Receives: Other: No intervention |
What is being measured
The primary outcome is the main question the study is designed to answer.
Age of milestone achievement
The TAND (Tuberous Sclerosis Associated Neuropsychiatric Disorders) Checklist collects information on the age at which developmental milestones were achieved, enabling the creation of CAMK2-specific developmental curves.
Measured: At baseline and again at the following key developmental ages that have not yet been reached: 3-4 years, 6-7 years, 11-12 years, and 15-17 years.
Presence of seizures
Presence of seizures is evaluated through our General questionnaire, which inquires about the presence of comorbidities, and through the online medical interview.
Measured: At baseline and again at the following key developmental ages that have not yet been reached: 3-4 years, 6-7 years, 11-12 years, and 15-17 years. After age 18 years, assessments are repeated every 5 years.
Adaptive Behavior Assessment System 3 (ABAS-3) score
The General Adaptive Composite (GAC) score of the ABAS-3 provides an overall estimate of adaptive functioning. Additionally, scores on the different subdomains of the ABAS-3 can be compared with developmental age. The questionnaire consists of 10 subdomains, each with a minimum score of 0 and a maximum score ranging from 66 to 78. Higher scores indicate higher developmental levels.
Measured: At baseline and again at the following key developmental ages that have not yet been reached: 3-4 years, 6-7 years, 11-12 years, and 15-17 years. After age 18 years, assessments are repeated every 5 years.
Social Responsiveness Scale, Second Edition (SRS-2) total score
The SRS-2 measures the severity of social impairment associated with autism spectrum disorder, as individuals with CAMK2-related disorder often exhibit autism spectrum traits. The score from this questionnaire ranges from 0 - 195. For school-aged individuals, scores of 57 and lower are considered to be within normal limits, for pre-school-aged individuals scores of 66 and lower are considered to be within normal limits. Higher scores indicate higher deficiencies in reciprocal social behavior.
Measured: At baseline and again at the following key developmental ages that have not yet been reached: 3-4 years, 6-7 years, 11-12 years, and 15-17 years. After age 18 years, assessments are repeated every 5 years.
Aberrant Behavior Checklist (ABC) score
The Aberrant Behavior Checklist measures problem behaviors in individuals with intellectual and developmental disabilities. Scores range from 0 - 174, with higher scores indicating more overall behavioral challenges.
Measured: At baseline and again at the following key developmental ages that have not yet been reached: 3-4 years, 6-7 years, 11-12 years, and 15-17 years. After age 18 years, assessments are repeated every 5 years.
Secondary outcomes (7)
Repetitive Behaviors Questionnaire (RBQ) score
The RBQ measures restricted and repetitive behaviors. Scores range from 0 - 76, with higher scores indicating higher frequency of restricted and repetitive behavior.
Measured: At baseline and again at the following key developmental ages that have not yet been reached: 3-4 years, 6-7 years, 11-12 years, and 15-17 years. After age 18 years, assessments are repeated every 5 years.
Child Behavior Checklist (CBCL) score
The CBCL measures emotional and behavioral problems. The questionnaire assesses internalizing problems, externalizing problems, and other problems. For children aged 1.5-5 years, scores for internalizing problems range from 0-72, scores for externalizing problems range from 0-48, and scores for other problems range from 0-14. For the 6-18-year-old group, scores for internalizing problems range from 0-64, for externalizing problems from 0-70, and for other problems from 0-72. Higher scores indicate greater problems in these domains.
Measured: At baseline and again at the following key developmental ages that have not yet been reached: 3-4 years, 6-7 years, 11-12 years, and 15-17 years. After age 18 years, assessments are repeated every 5 years.
Children's Behavior Questionnaire (CBQ) score
The Children's Behavior Questionnaire (CBQ) measures temperament in early childhood. Subdomains consist of presence of self-injury, severity of self-injury, physical aggression, destruction of property and stereotyped behaviors. Scores range from 0 - 18, with higher scores indicating higher severity of problems.
Measured: At baseline and again at the following key developmental ages that have not yet been reached: 3-4 years, 6-7 years, 11-12 years, and 15-17 years. After age 18 years, assessments are repeated every 5 years.
Mood, Interests and Pleasure Questionnaire Long form (MIPQ-L) score
The Mood, Interests and Pleasure Questionnaire monitors emotional well-being and quality of life through subscale scores of mood, interest and pleasure. Scores range from 0-100, with higher scores indicating more positive mood, interest, and pleasure
Measured: At baseline and again at the following key developmental ages that have not yet been reached: 3-4 years, 6-7 years, 11-12 years, and 15-17 years. After age 18 years, assessments are repeated every 5 years.
Short Sensory Profile (SSP) score
The Short Sensory Profile questionnaire measures sensory processing patterns. Scores range from 0 - 185, with lower scores indicate more frequent sensory processing difficulties.
Measured: At baseline and again at the following key developmental ages that have not yet been reached: 3-4 years, 6-7 years, 11-12 years, and 15-17 years. After age 18 years, assessments are repeated every 5 years.
Sleep questionnaire for children with neurological andother complex illnesses (SNAKE) score
The SNAKE questionnaire for children with severe psychomotor impairments measures sleep problems in children with severe neurological or psychomotor disabilities. Scores range from 23 - 92, with higher scores indicating more frequent and/or more severe sleep disturbances.
Measured: At baseline and again at the following key developmental ages that have not yet been reached: 3-4 years, 6-7 years, 11-12 years, and 15-17 years. After age 18 years, assessments are repeated every 5 years.
Presence of loss of skills
The LOST-skill questionnaire inquiries about skills in all areas of development and functioning, and stability of body functions, in order to identify patterns of skill loss. Scoring is not used in this questionnaire, as the questionnaire aims to identify patterns.
Measured: Assessment with this questionnaire begins at ages 15-17 and is repeated every five years thereafter.
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted28 Jan 2026
- Study start9 Feb 2021
- Primary completion1 Jan 2040 (estimated)
- Study completion1 Jan 2040 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for CAMK2Studies of the same condition, open and under way.
- More trials run by Erasmus Medical CenterThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 150 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Erasmus Medical Center
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Danielle C.M. Veenma, Erasmus Medical Center
- Investigators
- Danielle CM Veenma, MD PhD, Principal investigator, Erasmus Medical Center
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07372833
- Sponsor's protocol ID
- MEC-2021-0099
- Status last verified
- Jan 2026
- First submitted
- 14 Nov 2024
- Last updated
- 28 Jan 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided: Undecided at the moment
Study at a glance
From the registry record, last updated by the sponsor on 28 Jan 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- 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.
- ClinicalTrials.gov ID
- NCT07372833
- Acronym / sponsor ID
- MEC-2021-0099
- Keywords
- CAMK2, Calcium/calmodulin-dependent protein kinase 2
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 150 participants (estimated)
- Lead sponsor
- Erasmus Medical CenterUniversity, hospital or other
- Study start
- 9 Feb 2021 (actual)
- Primary completion
- 1 Jan 2040 (estimated)
- Study completion
- 1 Jan 2040 (estimated)
- First posted
- 28 Jan 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| CAMK2 mutation | – | Other: No interventionPatients with a mutation in the CAMK2A, CAMK2B, CAMK2D and CAMK2G gene. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- National and international children and adults with a (likely) pathogenic variation in one of the CAMK2 genes.
Key inclusion criteria (2 listed)
- Subject with a (likely) pathogenic variation in one of the CAMK2 genes
- Consent for anonymous registration in an (inter)national database
Key exclusion criteria (1 listed)
- Subjects with a Variant of Unknown Significance (VUS); in those cases functional analysis should be performed first.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| No interventionThis is an observational study without interventions. | Other | CAMK2 mutation |
Primary outcome
Age of milestone achievement
Time frame: At baseline and again at the following key developmental ages that have not yet been reached: 3-4 years, 6-7 years, 11-12 years, and 15-17 years.
The TAND (Tuberous Sclerosis Associated Neuropsychiatric Disorders) Checklist collects information on the age at which developmental milestones were achieved, enabling the creation of CAMK2-specific developmental curves.
Presence of seizures
Time frame: At baseline and again at the following key developmental ages that have not yet been reached: 3-4 years, 6-7 years, 11-12 years, and 15-17 years. After age 18 years, assessments are repeated every 5 years.
Presence of seizures is evaluated through our General questionnaire, which inquires about the presence of comorbidities, and through the online medical interview.
Adaptive Behavior Assessment System 3 (ABAS-3) score
Time frame: At baseline and again at the following key developmental ages that have not yet been reached: 3-4 years, 6-7 years, 11-12 years, and 15-17 years. After age 18 years, assessments are repeated every 5 years.
The General Adaptive Composite (GAC) score of the ABAS-3 provides an overall estimate of adaptive functioning. Additionally, scores on the different subdomains of the ABAS-3 can be compared with developmental age. The questionnaire consists of 10 subdomains, each with a minimum score of 0 and a maximum score ranging from 66 to 78. Higher scores indicate higher developmental levels.
Social Responsiveness Scale, Second Edition (SRS-2) total score
Time frame: At baseline and again at the following key developmental ages that have not yet been reached: 3-4 years, 6-7 years, 11-12 years, and 15-17 years. After age 18 years, assessments are repeated every 5 years.
The SRS-2 measures the severity of social impairment associated with autism spectrum disorder, as individuals with CAMK2-related disorder often exhibit autism spectrum traits. The score from this questionnaire ranges from 0 - 195. For school-aged individuals, scores of 57 and lower are considered to be within normal limits, for pre-school-aged individuals scores of 66 and lower are considered to be within normal limits. Higher scores indicate higher deficiencies in reciprocal social behavior.
Aberrant Behavior Checklist (ABC) score
Time frame: At baseline and again at the following key developmental ages that have not yet been reached: 3-4 years, 6-7 years, 11-12 years, and 15-17 years. After age 18 years, assessments are repeated every 5 years.
The Aberrant Behavior Checklist measures problem behaviors in individuals with intellectual and developmental disabilities. Scores range from 0 - 174, with higher scores indicating more overall behavioral challenges.
7 secondary outcomes
Repetitive Behaviors Questionnaire (RBQ) score
Time frame: At baseline and again at the following key developmental ages that have not yet been reached: 3-4 years, 6-7 years, 11-12 years, and 15-17 years. After age 18 years, assessments are repeated every 5 years.
Child Behavior Checklist (CBCL) score
Time frame: At baseline and again at the following key developmental ages that have not yet been reached: 3-4 years, 6-7 years, 11-12 years, and 15-17 years. After age 18 years, assessments are repeated every 5 years.
Children's Behavior Questionnaire (CBQ) score
Time frame: At baseline and again at the following key developmental ages that have not yet been reached: 3-4 years, 6-7 years, 11-12 years, and 15-17 years. After age 18 years, assessments are repeated every 5 years.
Mood, Interests and Pleasure Questionnaire Long form (MIPQ-L) score
Time frame: At baseline and again at the following key developmental ages that have not yet been reached: 3-4 years, 6-7 years, 11-12 years, and 15-17 years. After age 18 years, assessments are repeated every 5 years.
Short Sensory Profile (SSP) score
Time frame: At baseline and again at the following key developmental ages that have not yet been reached: 3-4 years, 6-7 years, 11-12 years, and 15-17 years. After age 18 years, assessments are repeated every 5 years.
Sleep questionnaire for children with neurological andother complex illnesses (SNAKE) score
Time frame: At baseline and again at the following key developmental ages that have not yet been reached: 3-4 years, 6-7 years, 11-12 years, and 15-17 years. After age 18 years, assessments are repeated every 5 years.
Presence of loss of skills
Time frame: Assessment with this questionnaire begins at ages 15-17 and is repeated every five years thereafter.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 28 Jan 2026.
- Individual participant dataSharing planned: Undecided. Undecided at the moment
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Anjuli L Dijkmans, MD contact
Danielle CM Veenma, MD PhD principal investigator
Erasmus Medical Center
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of CAMK2 and Calcium/Calmodulin-dependent Protein Kinase 2, run by Erasmus Medical Center at 1 site in Netherlands.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 28 Jan 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Netherlands. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Danielle CM Veenma, MD PhD (010-7037815, camk2disorders@erasmusmc.nl), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Age of milestone achievement (time frame: At baseline and again at the following key developmental ages that have not yet been reached: 3-4 years, 6-7 years, 11-12 years, and 15-17 years.). The study lists 5 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 28 Jan 2026.