Updates from the Director of Scientific & Clinical Initiatives
February 2026
The Dup15q Alliance’s Believe in a Cure Gala will be making its final appearance in Philadelphia on March 7th! At the Gala, we will be raising funds to support the scientific and research mission of the Dup15q Alliance. We will be presenting the 2026 Achievement in Research and Clinical Study Award to Dr. Sam Alperin for his past, ongoing, and future work on Dup15q at Children’s Hospital of Philadelphia. To buy tickets or donate to support Dup15q science, click here.
-Dylan Ritter
LEARN
A Grant to Better Understand Dup15q in the Clinic
Through the generous contributions of the Max Asher Lim Initiative, we have awarded a clinical research grant to Dr. Sam Alperin at Children’s Hospital of Philadelphia for his work studying Dup15q syndrome! The Max Asher Lim Initiative will support two years of work addressing three overarching topics in the Dup15q clinical landscape:
- A review of Dup15q seizures, focusing on medications, seizure types, and EEGs
- Comparing phenotypes between 15q duplications and deletions, focusing on autism, seizures, development, sleep, and behavior
- Developing clinical guidelines for the treatment of Dup15q syndrome
These three projects answer large outstanding questions in our knowledge of Dup15q syndrome, so Dr. Alperin’s work will be addressing key areas of clinical need. Additionally, clinical guidelines for the treatment of Dup15q syndrome will support families across the globe who need support from a clinician who is not familiar with Dup15q syndrome and how to treat the symptoms. Additionally, Sam Alperin will be awarded the 2026 Achievement in Research and Clinical Study Award from the Dup15q Alliance. Congratulations, Dr. Alperin!
TREAT
Clinical Trials Update to Website
As part of my mission to prepare the Dup15q syndrome community for clinical trials, I have updated the Dup15q Alliance website to reflect our current clinical trial landscape. While there are not any current clinical trials underway specifically for Dup15q syndrome, we hope that some may be available soon! Additionally, there are active enrollments for clinical trials targeting epilepsy in Dup15q syndrome. Visit the link to see if your loved one could qualify to participate!
CURE
What is a Clinical Trial?
A clinical trial is a research study to determine the safety and effectiveness of a medical treatment for specific condition. Clinical trials can only begin when sufficient evidence of medical safety and effectiveness for a drug have been shown in animal models like mice. Additionally, strict inclusion criteria are needed to identify the patient population that is suitable for the specific phase of the clinical trial. Common inclusion criteria include genetic diagnosis, age, and current symptoms.
The early phases of clinical trials incorporate multiple doses of a study drug and heavy scrutiny to ensure that patients are not seeing any unexpected adverse effects from the drug. If the early phase of a clinical trial sees improvements in a specific measure (and the treatment is safe), then the trial phase is a success and can proceed to the next phase.
Later phases of a clinical trial may have expanded inclusion criteria, like expanding to additional sites within the same country or internationally or including younger and/or older individuals in the trial. Again, safety and effectiveness are both of utmost importance, and participants are closely monitored to ensure there are no negative effects. If a patient has an adverse reaction caused by the clinical trial drug, they will be removed from the clinical trial and monitored to ensure safety.
Clinical trial success is determined by many factors including the drug itself and participation in the trial. We want to answer any questions families have about clinical trials before they enroll! To tell us what you want to learn more about, please fill out this survey to assess clinical trial readiness in our community.
