Updates from the Director of Scientific & Clinical Initiatives
January 2026
I can hardly believe that it was one year ago when I wrote my very first SCI Spotlight for the Dup15q Alliance. I wanted to take a moment to thank all the families who have been supportive during my first year as the Director of Scientific Initiatives. Whether it was asking questions during the conference, webinars, or to the help desk, I have seen families actively engaged with our science. I have also seen first-hand the power of parents (and siblings) to use individual talents and determination to accomplish goals that move the Alliance forward and improve care for those living with Dup15q syndrome. 2025 was a momentous year for Dup15q science. Let’s make 2026 even better.
-Dylan Ritter
LEARN
Building a Dup15q Clinician Registry
In my role, I have heard of several families in crisis during this past year. Unfortunately, Dup15q syndrome is unrelenting, so the only option is to improve our resources available for families until better treatments become available. One of my objectives is to develop a clinician registry of medical professionals who have experience with Dup15q syndrome. The purpose is to ensure that if a family needs to find a clinician with some Dup15q familiarity (even if it was only seeing a single patient), there is someone to reach out to. While some of our community is fortunate to live near a Dup15q clinic site, most of our families do not. Having a resource to make better clinical care available to all our families is critical.
I urge you, if you have been to a clinician of any specialty for your Duper and had a positive experience, please include their information on this sheet. I have already utilized this resource to connect some families, but this will only succeed if we have contributions from across the US (and across the world too!).
TREAT
A GABAA ⍺5 NAM in a Dup15q Mouse
Dup15q syndrome has a number of genes duplicated in the 15q11.2-13.1 region. UBE3A is likely a major contributor to symptoms, while GABAA receptor genes (GABRA5, GABRB3, GABRG3) likely also play a role in Dup15q syndrome symptoms. Therapeutically, you can expect that if there is too much of something in Dup15q syndrome, then reducing the excess amounts or excess effects could offer therapeutic benefit.
There was a recent publication from Roche related to a GABAA ⍺5 negative allosteric modulator (NAM) called RO4938581 meant to reduce the effect of excess GABRA5. It is important to note that Roche is the creator of the GABAA ⍺5 NAM drug Basmisanil, which was previously in clinical trials for Dup15q syndrome. It was acquired last year by Newleos, and we will be sure to alert the community when news is available about what they plan to do with Basmisanil.
In this study, RO4938581 was used to reduce the effects of excess GABAA ⍺5 receptors in a Dup15q mouse model. The researchers found that RO4938581 altered some Dup15q mouse behavior to normalize learning flexibility and social interaction. The tests showed that mice were more adept at adapting to unfamiliar environments and had similar sociality to control mice after treatment with RO4938581. Additionally, there was some normalization of the abnormal EEGs associated with Dup15q syndrome. Overall, the study highlights that modulating GABAA ⍺5 receptors with a NAM could potentially have some impact on behaviors and EEG readings.
In the context of Dup15q syndrome in people, it was clearly stated that RO4938581 is a compound that is well-tested in rodents but is not meant for clinical applications in humans. Conversely, Basmisanil is better suited for use in humans, while having less ideal activity in rodents. Essentially, this study uses RO4938581 as a proof-of-concept that a GABAA ⍺5 NAM in Dup15q syndrome could improve some behavioral symptoms.
CURE
Clinical Trial Readiness
As I’m sure much of the community is, I am excited at the prospect of clinical trials becoming available for Dup15q syndrome. While there are current clinical trials for some drugs that allow Dup15q syndrome participants, there are not any ongoing trials designed specifically to treat Dup15q syndrome. While we cannot control when a drug is available for clinical trials, we as a community can improve our “clinical trial readiness.”
Clinical trial readiness isn’t just about a trial being available it’s about a community being prepared to participate meaningfully and safely. For the Dup15q syndrome community, readiness includes understanding why trials are conducted, what participation involves, and how family engagement influences whether therapies move forward. A prepared community helps researchers design better studies and increases the likelihood that promising treatments reach approval.
As drug developers are working hard to start clinical trials, we have a responsibility to make sure that we are ready to go as soon as the trial opens up. This spring, I plan to provide resources for families that include live webinars with discussions as well as recordings and other content to learn about clinical trial readiness. If you have questions or topics you’d like to learn more about, please let me know by filling out this form!
