The CAMK2 Outcome Measures Study has officially started!
The CAMK2 Outcome Measures Study has officially started!
This month, the first two CAMK2 families traveled all the way from Italy to the Erasmus MC to participate in our efforts to identify feasible outcome measures for future intervention trials.
As a proof-of-concept, we are focusing on patients with two specific gain-of-function mutations in the CAMK2A and beta isoform. During their stay, the families visited our Child Brain Lab and were seen by our multi-disciplinary CAMK2 expert team which consists of a child psychiatry team, speech-language therapist, physical therapists, pediatric neurologist, and developmental & genetic pediatrician.
We are grateful to the families for participating in this study and look forward to meeting more members of the CAMK2 community in the coming years.
This project is funded by the Dutch Brain Foundation.
Aware of patients with a CAMK2B (Pro139Leu) or CAMK2A (Thr286XX) disorder? Please contact our team: camk2disorders@erasmusmc.nl.