August 27, 2025
Andrew P. Levy MD PHD
IQSEC2 is a protein which is critical for normal brain development. Without a properly functioning IQSEC2 molecule children will develop seizures, poor language skills, and a moderate to severe learning disability. All children with IQSEC2 disease have a change in their DNA (mutation). We and our collaborators have created mice with the same DNA mutations found in children with IQSEC2 disease. These mice display seizures, behavioral changes, and learning disabilities similar to children with IQSEC2 disease.
In this research study we set out to test whether providing a normal copy of the IQSEC2 DNA could prevent or rescue mutant mice from developing the disease. We introduced the IQSEC2 DNA using a special type of virus which doesn’t infect people (adeno associated virus). We also used genetic methods to make sure IQSEC2 would only be made in the brain.
After the mice received the virus we monitored their growth, seizure activity, and behavior. In all cases we were able to demonstrate that mice that received the virus had a dramatically improved condition. The treated mice grew to be larger, had fewer seizures, and showed improved social behavior.
Another important finding in the study was that treated adult mice, not just young mice, showed improvement. This suggests that the window for this type of therapy may be quite broad, allowing teenagers or young adults with IQSEC2 mutations to be helped.
One of the most important aspects of this study is that it was done in three different laboratories, increasing the reliability and confidence of the generated data.
This does not represent a cure for IQSEC2 disease. It does, however, represent a major step forward in providing a treatment that could significantly improve the lives of many children with IQSEC2 disease. Our next step is to carry out a clinical trial within the next year which will depend on fund raising and regulatory compliance to make sure the study is done safely. Our goal is to make treatment available to all children with IQSEC2. More details will be discussed in an upcoming webinar for the IQSEC2 community.
