KCNQ2 and Gene Therapy

As genomics technologies continue to advance, so too has the potential of personalized treatments, including interventions that target specific genes. Because we know that variants in KCNQ2 can lead to developmental and epileptic encephalopathy (DEE), gene-based therapies are emerging as a promising area of focus for our community. Through collaborations with biotech partners, we are working to gain a better understanding of how genetic medicines may work for families with KCNQ2-related disorders.

ASOs (antisense oligonucleotides)

ASOs are short strands of genetic material that are used to modify gene expression. In the case of KCNQ2-related disorders, ASO development is currently focused on reducing the expression of the protein produced by the mutated copy of the KCNQ2 gene, as many of these proteins interfere with the protein produced by the working copy of KCNQ2. Teams at the n-Lorem Foundation are currently partnering with community members to identify genetic targets for their experimental ASOs. Once an effective ASO is identified, the next step is to establish a safety profile, with the ultimate goal of administering it to the participant. n-Lorem’s approach is to develop each ASO for a specific individual, but there is potential for it to be effective in others (learn more about an example from the KIF1a Foundation here). Further, the knowledge gained from these efforts can pave the way for other therapeutic programs.

As we recently shared on our Facebook page, we are also working with scientists at Boston Children’s Hospital on a similar ASO approach. A survey was shared to gather more information on our patient community and help inform their therapeutic development strategy.

Gene Therapy

Scientists at Asymptote Genetic Medicine are pursuing a different but complementary genetic medicine strategy. Their approach aims to decrease expression from a mutated copy of KCNQ2 (like an ASO) while also delivering healthy copies of the gene. Still in the early stages of development, their approach has the potential to deliver a genetic medicine that could be applied broadly across our community.

Learn More

There is still a lot to learn about how these and similar technologies can be safely and effectively applied to neurodevelopmental disorders. However, staying informed and engaged is important. If you’re interested in learning more about gene therapies, this introductory video provides helpful background information. For an even deeper dive, you can also register for Empower Patients 2026: A Cell and Gene Therapies Summit, a FREE, online event hosted by ASGCT March 11-12.