The Progress Made in 2025 Moves Us Closer to Treatments for Kabuki Syndrome
As we celebrate GivingTuesday, we’re taking a moment to look back on the incredible progress we made together in 2025. This year, the Kabuki Syndrome Foundation brought our mission into sharper focus than ever before. We hosted a global Clinical Management Guidelines Consensus Meeting, published our first therapeutic pipeline outlining nine potential treatments in development, completed recruitment for the first phase of the Kabuki Syndrome Outcome Measures and Biomarkers Consortium (KSOC), committed more than $1.5 million to research, and secured the first ever Kabuki syndrome ICD-10-CM code.
Each of these achievements was made possible because of the generosity, trust, and participation of families, clinicians, researchers, and donors around the world.
And while we celebrate these accomplishments, we know there is still so much more to do. Our commitment remains the same: to provide the information, resources, and research that improve quality of life for people living with Kabuki syndrome and their families; and to bring the first potential Kabuki syndrome treatment to clinical trial. Every study, every collaboration, and every dollar raised moves us closer to that goal.
Looking back, 2025 was a year of tangible, meaningful progress. When more than forty experts from across the globe came together for the Clinical Management Guidelines Consensus Meeting, they helped lay a stronger foundation for care, ensuring clinicians have the best possible information to guide treatment decisions. Our newly published therapeutic pipeline made visible what has long been in motion behind the scenes: nine potential treatment approaches that represent real, achievable opportunities to change lives. And through KSOC, we are completing the first phase of work to develop biomarkers and outcome measures, which is an essential step toward successful clinical trials in the future.
So far this year, we’ve funded $372,5000 to research and funded two pre-clinical studies that continue to push scientific understanding forward. These aren’t abstract wins – they are real steps that will determine how quickly treatments can reach our community. Behind every milestone are families who said yes to participating in research, clinicians who shared their expertise, and donors who believed that improving the lives of people living with Kabuki syndrome is possible.
And yet, we are just getting started.
The pace of discovery is accelerating, and 2026 holds even greater promise. Not one, but two potential treatments could enter clinical trials in the coming year. At the same time, we remain committed to supporting early-stage research that helps us better understand Kabuki syndrome and how to treat it more effectively. We also continue investing in resources that make a difference for families today.
To keep this momentum going, we need your help. Every donation – no matter the size – makes an impact. It allows us to fund the next study, expand our research partnerships, and continue building toward a future where treatments for Kabuki syndrome are not just possible, but available.
This GivingTuesday, we invite you to be part of what’s next. Together, we can move research forward, open more doors to discovery, and bring hope to every family living with Kabuki syndrome.