Nov 03: Marlen Bugarin Lead Public Relations Specialist mbugarin@chla.usc.edu --Hundreds of clinicians, researchers, self-advocates, and families gathered at Children’s Hospital Los Angeles recently for the second annual Down Syndrome Regression Disorder Symposium.
The event was led by Jonathan D. Santoro, MD, Chief of Neurology, Co-Director of the Neurological Institute, and the Las Madrinas Chair in Neurology at CHLA. Dr. Santoro is one of the world’s foremost experts on DSRD, a rare condition that can cause people with Down syndrome to suddenly lose the ability to communicate, eat, move, and perform everyday activities.
Held Sept. 26 at The Saban Research Institute of Children’s Hospital Los Angeles and virtually, the symposium highlighted new research and advances in care while giving patients and families an opportunity to connect and share their experiences.
The symposium was organized by Lina Nguyen, RN, a nurse who works in Dr. Santoro’s Strategic Therapies for Overcoming Reactive iMmunology (STORM) Lab.
CHLA experts accelerate DSRD research
Since 2019, Dr. Santoro and his colleagues have led breakthrough research to deepen the understanding of DSRD and improve treatments. To highlight the progress made, Dr. Santoro showed a photo of a rocket launching into space during his opening address.
"This is where we’re headed," he told attendees. "We have accomplished so much already, and there is so much more to come."
That progress includes the first DSRD-focused clinical trial—a collaboration between Children’s Hospital Los Angeles and the University of Colorado and Children’s Hospital Colorado that is investigating the safety and effectiveness of three different treatments for DSRD, including immunotherapies such as intravenous immunoglobulin.
The symposium also featured experts from institutions across the country, including Kate Westmoreland, MD, of the University of North Carolina at Chapel Hill; Aaron Besterman, MD, of the University of California San Diego; Ryan Kammeyer, MD, of the University of Colorado and Children’s Hospital Colorado; and Kara Thompson, DO, of MercyOne.
Speakers addressed key questions in DSRD diagnosis and care, including how to distinguish the condition from other disorders, recognize and treat catatonia, and manage its medical, psychiatric, and immune symptoms. Presentations also explored the potential role of blood-brain barrier dysfunction and whether GLP-1 receptor agonists could have future applications in DSRD treatment.
A personalized medicine approach to DSRD treatment
In the symposium's keynote address, Dr. Santoro detailed the use of neurodiagnostic testing and how this leads to treatment selection by clinicians.
He then explained how profiles of cerebrospinal fluid samples may help predict how well an individual will respond to certain immunotherapies, particularly Janus Kinase (JAK) inhibitors and B-cell depletion therapies. These data have now opened the door for personalized medicine approaches to treating DSRD for the first time. Additionally, he detailed how a novel autoantibody against parvalbumin interneurons could potentially be causing DSRD, though additional research is needed.
Dr. Santoro also provided an update on the first clinical trial focused on DSRD, which CHLA co-led with Children’s Hospital Colorado and the University of Colorado. Results are expected to be published next year.
He later described the team’s next clinical trial, which will test the immunotherapy ublituximab (Briumvi) in treating DSRD. He also touched on efforts to more specifically identify the causes of DSRD and how knowledge gained from DSRD treatments may help inform care for other neurologic diseases in people with Down syndrome, such as autism spectrum disorder, moyamoya vasculopathy, epilepsy, and potentially even Alzheimer’s disease.
He emphasized the importance of families sharing their personal DSRD stories. "You are the key to spreading the word on DSRD and helping an individual get diagnosed and treated quickly," Dr. Santoro told families.
Patients highlight the impact of DSRD research
One of the highlights of the event was the opportunity for individuals with Down syndrome and DSRD to share their own stories.
Ryan, who has Down syndrome but does not have DSRD, spoke about why he chose to participate in DSRD research as a healthy control. Meanwhile, Darci, a Special Olympics athlete who was treated for DSRD by Dr. Santoro, shared how she is now returning to the sports and the life she loves.
"I've been traveling a lot, enjoying the outdoors, and kayaking," Darci said. "I get to compete in sports, I won some medals, and I also got back into public speaking. I couldn't do it without Dr. Santoro. I want to say thank you, and never give up."
