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Recruiting NCT07372833

CAMK2-related Synapthopathies Natural History Study

— Observational CAMK2 Calcium/Calmodulin-dependent Protein Kinase 2

For patients and families

In plain language

An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.

What is being studied
The protocol lists: No intervention.
Who it may be relevant to
Registry conditions: CAMK2, Calcium/Calmodulin-dependent Protein Kinase 2. Basic parameters: No limits · All.
What needs checking
Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
Where it takes place
Netherlands
Next step
Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →

Unsure about the terms? Read our patient guide →

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.

Overview

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.

Interventions

  • Other No intervention
    This is an observational study without interventions.

Primary outcome measures

  • 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.]
  • 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.]
  • 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.]
  • 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.]
  • 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.]
Secondary outcome measures (7)
  • 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.]

Eligibility 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.

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: No

Study design

Observational model
Cohort

Study locations

Netherlands · 1 center
  • Erasmus MC — Rotterdam

Identifiers

NCT: NCT07372833 · MEC-2021-0099

Primary sources (government registries)

View this study on ClinicalTrials.gov ↗