New Research Project BEATKCNQ Launched – Hope for Families Affected by KCNQ2 Encephalopathy
KCNQ2 e.V. is pleased to announce a major new European research initiative: BEATKCNQ – Biomarker and Experimental Approaches to Therapy in KCNQ2 Encephalopathy.
Funded by the European Joint Programme on Rare Diseases (EJP RD), this collaborative project brings together scientists and clinicians from across Europe. Its goal is to develop new diagnostic tools and therapeutic options for individuals with KCNQ2-related developmental and epileptic encephalopathy (KCNQ2-DEE).
One key aspect of the project is the creation of a dedicated EEG repository. By collecting raw EEG data from individuals with KCNQ2-DEE, the team aims to identify specific EEG biomarkers that could support earlier diagnosis, track disease progression, and guide clinical decisions.
Another major component involves personalized n-of-1 trials. These will test whether certain existing drugs show effectiveness for specific KCNQ2 mutations. Donepezil will be tested in individuals with gain-of-function variants, while cannabidiol (CBD) will be explored in those with loss-of-function mutations. In addition to seizure control, the potential developmental benefits of CBD will also be evaluated. If other promising compounds are identified, the team plans to expand the trials accordingly.
Please note that, at this stage, no children are being enrolled in the study yet, as approval from the EMA is still pending. The community will be informed as soon as this changes.
However, families interested in contributing to the EEG biomarker study—by sharing EEG recordings and basic clinical data to support a dedicated research repository—can already register their child. Interested families can get in touch via KCNQ2@uantwerpen.be while the study platform is still being set up.
KCNQ2 e.V. is in close contact with Prof. Dr. Sarah Weckhuysen, fully supports this project, and will continue to keep the community informed of all important developments.
For more information about the BEATKCNQ project, please visit the official website:
Disclaimer: This post is for informational purposes only. It does not constitute medical advice. All decisions regarding diagnosis and treatment should always be made in consultation with qualified medical professionals.