Kabuki Syndrome Treatment Research: Updates from TOGETHER FOR PROGRESS

The Kabuki Syndrome Foundation (KSF) is building the research and clinical infrastructure needed to accelerate treatments for Kabuki syndrome and improve care for individuals and families today. During KSF’s 2026 community research webinar, Together for Progress, the Foundation shared updates on major research milestones, clinical trial preparedness, potential treatments, new resources for families, and opportunities for the Kabuki syndrome community to help shape the future of research. 

Since its founding in 2018, KSF has invested more than $2.8 million in Kabuki syndrome research across 24 institutions in seven countries and built a growing global research community. Key accomplishments include:

• Building a global community of more than 1,610 individuals through Kabuki Count, KSF’s global census and contact registry.
• Supporting recruitment for Kabuki syndrome research studies worldwide.
• Establishing research tools and infrastructure, including patient resources, cell lines, and animal models.
• Launching the Kabuki Syndrome Outcome measures and biomarkers Consortium (KSOC) to develop objective measures that can help evaluate potential treatments in clinical trials.
• Leading the effort to secure a dedicated ICD-10-CM diagnosis code for Kabuki syndrome (Q89.81) in the United States, improving the ability to identify and track prevalence and resource utilization.

Together, these efforts have created the scientific infrastructure needed to better understand Kabuki syndrome, evaluate potential treatments, and prepare the community for future clinical trials.

Major Kabuki Syndrome Research Milestones

The webinar highlighted several significant advances since KSF’s previous community research update. 

• KSOC completed enrollment and data collection for its first cohort, with 150 families contributing clinical assessments and biological samples. This work is helping researchers develop and validate biomarkers and outcome measures that could be used to evaluate treatment effectiveness in future Kabuki syndrome clinical trials.
• KSF also expanded its AI-driven drug repurposing research with Unravel Biosciences to include both Kabuki syndrome Type 1 and Kabuki syndrome Type 2. 
• In addition, KSF funded three preclinical animal studies evaluating promising therapeutic approaches.

These initiatives demonstrate KSF’s commitment to not only funding research, but actively designing, leading, and accelerating studies and building infrastructures that bring potential treatments closer to families.

Preparing the Kabuki Syndrome Community for Clinical Trials

A major focus of the webinar was preparing the Kabuki syndrome community for future clinical trials. Before potential treatments can be tested effectively in people, researchers need reliable ways to identify participants, measure disease-related outcomes, understand how Kabuki syndrome changes over time, and evaluate whether a treatment is working.

KSF is developing this infrastructure through complementary research programs and resources, including:

• A research toolkit containing cell lines, mouse models, participant resources, and a growing Data Library.
• KSOC, which is developing biomarkers and outcome measures for use in future clinical trials.
• Kabuki Count, which helps KSF understand and connect with the global Kabuki syndrome community.
• Kabuki INSIGHTS, a new global research registry and data hub that will collect longitudinal health information to improve understanding of Kabuki syndrome across the lifespan and support future therapeutic development. Recruitment for Kabuki INSIGHTS is expected to begin later in 2026.

Together, these programs are designed to strengthen Kabuki syndrome research, improve study recruitment, generate meaningful data, and help ensure that the community is prepared when clinical trials become available.

Updates on Potential Treatments for Kabuki Syndrome

The webinar also provided an update on KSF’s therapeutic pipeline, which includes multiple potential approaches to treating Kabuki syndrome. Research updates included progress in laboratory-based and AI-driven drug repurposing programs, encouraging cellular findings from ongoing vafidemstat research, and continued investment in additional therapeutic strategies.

The Diverse Kabuki Syndrome Research Portfolio

Rather than relying on a single potential treatment, KSF is supporting a diverse research portfolio that includes drug repurposing, dietary and metabolic approaches, and early-stage genetic therapies. This diversified approach recognizes that Kabuki syndrome is complex and that multiple treatment strategies may ultimately be needed to address the different ways the condition affects individuals.

Drug Repurposing Programs for Kabuki Syndrome

Drug repurposing means taking drugs or therapeutics that are already on the market and using them for a new purpose. The advantage is that if these drugs are already proven safe, the path to patients can be much faster and less expensive. KSF’s goal is to identify and develop existing FDA-approved drugs or nutraceuticals that have the potential to treat Kabuki syndrome.

At KSF’s last research update, we shared plans for two drug repurposing programs: lab-based work at Boston Children’s Hospital and AI-driven work with a biotech called Unravel Biosciences. Here’s where each one stands today: 

KSF invested $130,000 on drug repurposing studies at Boston Children’s Hospital, a project that began in Dr. Olaf Bodamar’s lab, where he found several promising candidates. This work has since been transferred to Dr. Max Horlbeck’s lab, where Dr. Horlbeck has replicated and expanded on those findings. 

• This work tests candidate drugs that increase KMT2D or KDM6A expression in Kabuki syndrome human cell lines; so its finding could impact both Kabuki syndrome type 1 and type 2.
• Additional gene activity analyses are underway and patient-derived cells are being expanded for further testing.  
• The goal is to select one or two candidate drugs with consistent benefits for further preclinical testing. 

KSF has also invested $136,000 in Unravel Biosciences’ AI-driven drug repurposing platform. This project analyzed samples from people with Kabuki syndrome type 1 and type 2 to identify candidate repurposed drugs. 

• Sample collection is now complete, so thank you to everyone who donated nasal samples. 
• Unravel has analyzed the data, generated a list of potential drug and nutraceutical candidates, and KSF  is moving the program into the early discovery and validation stage. KSF has committed funding to test some of these candidates in preclinical models, which will be an important next step in narrowing down the strongest options.

KSF’s near-term goal is to look at candidates across both of these programs – Boston Children’s Hospital and Unravel – and prioritize the strongest ones for next stage, pre-clinical testing in mouse and/or cell lines.

Exploring Vafidemstat in a Kabuki Syndrome Mouse Model

Vafidemstat is an investigational drug developed by the biopharmaceutical company Oryzon that targets a pathway which could potentially benefit people with Kabuki syndrome. To determine if this drug is effective, and to help de-risk future human clinical trials, KSF funded a $300,000 preclinical study in mice.  At KSF’s last research update, we highlighted the experiments we had planned, and at the 2026 webinar, we provided an update on our progress.  

The first step of the study was establishing a Kabuki syndrome mouse colony at the CRO running the study, InnoSer in the Netherlands. We dosed sufficient mice with vafidemstat to complete several rounds of behavioral testing, along with collecting samples for cellular studies. As vafidemstat is given orally, an important step was confirming that the drug reaches the tissues where it needs to work. At the selected dose and dosing schedule, analysis confirmed that vafidemstat reaches both the blood and the brain. From there, biochemical markers like RNA sequencing and methylation signatures were evaluated to detect changes at the cellular level: 

• Kabuki syndrome mice showed downregulation of many genes, meaning many genes were expressed less in the mice with Kabuki syndrome compared to their non-Kabuki syndrome littermates.  Researchers found treatment with vafidemstat increased the expression of several of these genes that are disrupted in mice with Kabuki syndrome.  
• Just like in people with Kabuki syndrome, these mice also showed a unique methylation signature. The drug also appeared to have an effect on the methylation signature in mice with Kabuki syndrome, although more work needs to be done to understand its impact.

Finally, behavioral tests were conducted to evaluate whether the drug improved learning and memory. Unfortunately, these results were inconclusive because the behavioral tests were not challenging enough for the Kabuki syndrome mice to determine whether a drug could improve their performance. In other words, there wasn’t a clear enough difference between the Kabuki syndrome mice and non-Kabuki syndrome mice to measure a potential treatment effect. Since then, health issues in the mouse colony have also been identified, making it difficult to repeat or expand these studies.

Taken together, the cellular changes seen are encouraging even if the behavioral picture remains inconclusive. The next important step is determining whether this treatment shows similar effects in human cells.

To answer this question, KSF has funded an additional $70,000 project through Dr. Rosanna Weksberg’s lab at SickKids in Toronto, Canada. This study will test the drug in human fibroblast cells from individuals with Kabuki syndrome to determine whether the methylation changes seen in the mice can also be observed in human tissue.

Results from this study are expected early next year. If the findings continue to be promising, we will work with experts in the field to explore the next steps toward clinical trial development.

Improving Care and Supporting Families Today

Research remains at the core of KSF’s mission, but improving lives takes more than research alone. The Foundation also introduced new resources designed to improve access to care and strengthen support for the global Kabuki syndrome community.

The KSF Care Network will connect families with Centers of Excellence, experienced clinicians, Local Care Connectors, and patient advocacy organizations around the world. KSF is now accepting nominations for Kabuki syndrome expert doctors and therapists, and volunteer interest in supporting other families via email. 

• The community can help build this network in two important ways: 
  • nominate a clinician (doctors, therapists, dentists, etc.) to be considered for inclusion in the Care Network as a Kabuki Syndrome Expert, or
  • volunteer as a Local Care Connector to help newly diagnosed families and others in the Kabuki syndrome community find information, connections, and support.

KSF also highlighted expanded educational and clinical resources and new opportunities for families and community members to share their experiences, volunteer, and participate in research.

These programs help families find information, connections, and support while KSF continues working toward better treatments for Kabuki syndrome.

Progress Is Powered by the Kabuki Syndrome Community

KSF’s work is powered by the people who know and care about people with Kabuki syndrome. In the first half of 2026, 99.8% of KSF’s funding came from individual contributions, and 165 new donors joined the community, giving more than $65,000 to support Kabuki syndrome research, improve clinical care, and strengthen resources for families.

With a median gift of just $54, these numbers demonstrate that meaningful progress does not depend on a handful of large donations; it is built by many people taking action together. Community members can contribute in many ways, including participating in Kabuki syndrome research, sharing lived experiences, connecting families, making a donation, or starting a fundraiser through KSF’s Fuel the Future DIY fundraising program.

As community member and Kabuki syndrome mom Annie shared about her experience with Fuel the Future:

“Like many families, I wanted to do something tangible to support research and progress for our community. Fuel the Future gave me a way to contribute that felt meaningful and achievable.”

Throughout the webinar, one message remained consistent: meaningful progress depends on collaboration. Families, researchers, clinicians, advocates, and donors each play an essential role in advancing Kabuki syndrome research and improving care. By working together, the community is building the knowledge, tools, data, and partnerships needed to move potential treatments from research toward clinical trials.

KSF remains committed to providing transparent research updates, expanding opportunities for community participation, improving clinical care, and accelerating the development of safe and effective treatments for individuals with Kabuki syndrome.

Watch the Webinar and Learn More

View the presentation slides.

Watch the webinar recording, including the live Q&A.

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