CAMK2-related Synapthopathies Natural History Study
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeNot listed
SponsorErasmus Medical Center
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 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.
Eligibility criteria
This trial does not accept healthy volunteersQualifiers
Subject with a (likely) pathogenic variation in one of the CAMK2 genes
Consent for anonymous registration in an (inter)national database
Disqualifiers
None
Trial population
National and international children and adults with a (likely) pathogenic variation in one of the CAMK2 genes.
Trial design
Design model
Cohort
Time perspective
Prospective
Treatments tested in this trial
No intervention
Other interventionThis is an observational study without interventions.
Treatment groups
150 Participants
are divided into 1 treatment groupGroup A: CAMK2 mutation1 intervention
Trial outcomes
Primary outcomes
1
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.
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.2
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.
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.3
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.
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.4
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.
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.Secondary outcomes
1
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.
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.2
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.
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.3
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.
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.4
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
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.Sponsors and contacts
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Source ClinicalTrials.gov