Updates from the Director of Scientific & Clinical Initiatives
November 2025
December 1-7 is Infantile Spasms Awareness Week! As one of three governance member organizations in the Infantile Spasms Action Network, the Dup15q Alliance would like for our families to be aware and share awareness of infantile spasms. Infantile spasms (or IS) are a type of pediatric seizure that can appear as subtle head drops, body crunches, or jerks, which are easily mistaken for benign infant behaviors. Many of our Dup15q families have a loved one who has suffered or is suffering from infantile spasms, so this cause is extremely close to this community. Prompt diagnosis and treatment within 7 days can dramatically improve outcomes.
Over the coming week, we will be sharing facts and figures about infantile spasms on our social pages and other sites. We encourage all our families to share this content with their broader networks to increase awareness for this condition!
-Dylan Ritter
LEARN
Developing a Research Roadmap for Dup15q
A few months ago, I led a discussion with some of our top researchers, clinicians, and pharmaceutical minds to streamline our scientific priorities. Following a fruitful discussion, we have updated our draft research roadmap to reflect the key points mentioned by the experts. Some topics of note include the development of new model systems using Dup15q patient iPSCs and neurons, executing a longitudinal Dup15q natural history study, and prioritizing ASOs as the next generation of Dup15q therapeutics. Thankfully, many of these priorities are in progress already, so we feel that we and our scientific community are on the same page.
        On December 8th, I will be presenting a poster covering our Research Roadmap development at the American Epilepsy Society’s Annual Meeting in Atlanta, GA. Last year, this was the first conference I attended on behalf of the Alliance. I am looking forward to seeing some new and familiar faces and working hard to increase the presence of the Dup15q Alliance in a room of talented clinicians, researchers, and pharmaceutical companies. Stay tuned for next month’s SCI Spotlight where I’ll share some of the feedback I received on the poster!
TREAT
Adult Transition Program
In the world of neurodevelopmental disorders, medical care is often struggling to meet the needs of a family grappling with symptom management. The clinical systems in place primarily focus on the pediatric population, aiming to serve patients as soon after diagnosis as possible. However, not all clinicians or hospitals offer services for children and adults, leaving many of our Dup15q families looking for other resources once their loved one ages out of pediatric services. This problem isn’t specific to Dup15q syndrome, and some experts at Children’s Hospital of Philadelphia noticed. Researchers at CHOP have since developed a program for children with autism in the Philadelphia area to support their transition to adulthood as part of the PASSAGE program. Earlier this month, Dr. Ben Yerys and Dr. Ariana Garagozzo spoke to our community about what services are offered through the program.
        While the PASSAGE program is specific to CHOP, that doesn’t mean that families cannot benefit from a better understanding of what will be important when the time to transition approaches. The PASSAGE team has developed a Transition to Adulthood Checklist to help families understand what will be important to consider as their loved ones enter their teenage years.
CURE
What needs to be done for a drug to reach clinical trials?
We all have heard of clinical trials for new drugs where the medication is tested for safety and efficacy in a human population. Prior to starting clinical trials, companies need to first demonstrate that a drug is safe and efficacious in animals. For an ASO, a company may make hundreds of different kinds of ASOs that all should work the same way. Then, they test the ASOs sequentially in larger animals from cells to mice to rats to monkeys, only advancing the ASOs that work and are safe from the previous study. At the end of monkey experiments, the goal is to have one drug product that has been safe and functional at every step of the testing process.
        Monkey (or non-human primate) experiments are extremely important to convince the FDA that a drug will be safe and functional in humans. By dosing the monkeys like how a person would be dosed in a clinical trial, clinically meaningful data can be collected and presented to regulatory authorities who decide if clinical trials can begin. Sadly, monkey experiments are as expensive as they are important, often costing millions of dollars to complete. Our partners at Quiver and Kicho are diligently working to advance their ASOs through the animal testing pipeline as we speak. Our objective is to financially support our therapeutic partners’ efforts to advance their drugs through the animal testing stages so the FDA can review the data and decide if clinical trials can begin.
FINAL CONFERENCE SCIENCE WEBINAR
Thank you to everyone who has been able to join my webinars highlighting some of the key scientific talks of this year’s conference! There is still one more webinar highlighting some of the incredible scientific discussions at the conference! Check the link below to watch the full video on YouTube and to register for the Q&A webinar discussion:
Early Successes of ASO Genetic TherapiesÂ
Tuesday, December 16th at 12:00PM Eastern
Register here: https://us06web.zoom.us/meeting/register/pCqS-EO1QFaWTYvPKcAPLQ
