Updates from the Director of Scientific & Clinical Initiatives
May 2026
Hopefully you already know, but we hosted our 9th annual Big Give this past Wednesday! As part of the program, we heard talks from some of our esteemed researchers, clinicians, and biotech partners. At the time of writing, we have raised $20,000, which will help advance programs and projects like the ones discussed during the Big Give. Additionally, that $20,000 donated was matched by a generous donor, bringing the total to $40,000! If you missed the Big Give, you can see recordings of the conversations here. And if you want to continue to support the Big Give, donate here!
-Dylan Ritter
LEARN
What are GABA and GABA Receptors?
GABA is a chemical messenger that is important for brain function by helping brain cells find the right “balance” between activation and inhibition (sometimes called excitatory-inhibitory balance). GABA is released by one brain cell and received by another brain cell when it contacts a GABA receptor. This is one of the ways that brain cells “talk” to each other. Usually, GABA helps brain cells slow down, but the reality in Dup15q may be more complicated than that.
GABA receptors are made up of many subunits that function together as one cohesive unit. In Dup15q, there are likely extra GABA receptor subunits in brain cells since there are three GABA receptor subunits in the Dup15q genetic region (alpha-5, beta-3, gamma-3). As a result, we believe there are too many GABA receptors on Dup15q brain cells, leading to an elevated response when a normal (or potentially abnormal) level of GABA is sent from one brain cell to another brain cell. Even outside of Dup15q syndrome, GABA and GABA receptors are of great interest to pharmaceutical companies, as many common disorders like anxiety, autism, and depression have been associated with disrupted GABA signaling in the brain.
Basmisanil is a drug that is designed to interact specifically with GABA receptors that contain the alpha-5 subunit, which is importantly duplicated in Dup15q syndrome. What Basmisanil hopes to do is “quiet” the GABA receptors, making it so that the brain cell that receives the GABA signal doesn’t overreact due to having too many receptors. While the exact behavioral changes that are expected to come from quieting GABA alpha-5 receptors are still unknown, EEG will be the best current method to see that GABA receptor activity in the brain is being affected by Basmisanil. See below for more information about an interactive Q&A I will be hosting to answer any questions families may have!
TREAT
Lundbeck Webinar on Bexicaserin
During the conference this past year, we heard a wonderful presentation about Lundbeck’s new anti-seizure medication, Bexicaserin. Bexicaserin is currently being evaluated in Phase 3 clinical trials for efficacy in developmental and epileptic encephalopathy (DEE), including Dup15q! If you are interested in learning more about this new anti-seizure medication, then tune into Lundbeck’s webinar on June 1st at 8:30PM ET to learn more. Advanced registration is required, so follow the link to reserve your spot!
CURE
A Clinical Trial for Basmisanil!
As you noticed during the Big Give, Newleos announced that they plan to pursue a Dup15q clinical trial for Basmisanil! Basmisanil is a small molecule designed to inhibit some of the GABA receptors that are duplicated in Dup15q syndrome. Originally developed by Roche for a Dup15q clinical trial in 2023, the trial was prematurely terminated, meaning the true effect of Basmisanil in Dup15q was never tested. If you haven’t seen the announcement, I encourage you to watch a replay of the Newleos team’s presentation.
On June 16th at 8:00PM ET, I will be hosting a LIVE Q&A session related to Basmisanil to answer any questions the community may have about the announcement. This session will be recorded as a resource for the wider community who may not be able to attend at that time. If you want to attend, you must register in advance here. If you are uncomfortable asking a question live during the recording, you can submit your question in advance during registration or in the chat while on the webinar, since I won’t announce the names of who asks what questions. If you have questions or are just excited to hear more, please join!
