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.
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.
Inclusion Criteria:
Exclusion Criteria:
- Subjects with a Variant of Unknown Significance (VUS); in those cases functional analysis should be performed first.
camk2disorders@erasmusmc.nl010-7037815
camk2disorders@erasmusmc.nl