KSF Advisory Boards Meeting Highlights: Shaping the Future of Kabuki Syndrome Research

The Kabuki Syndrome Foundation recently convened an Advisory Boards meeting, bringing together 10 medical and industry experts to discuss the current state of the Kabuki syndrome research landscape and identify next priorities. Attendees included:

1. Dr. Margaret Adam, Seattle Children’s Hospital, University of Washington
2. Dr. Siddharth Banka, University of Manchester, Manchester University Hospital NHS Trust
3. Dr. Hans Bjornsson, University of Iceland, Johns Hopkins School of Medicine, Landspitali University Hospital
4. Dr. Kasturi Haldar, University of Notre Dame 
5. Dr. Jacqueline Harris, Kennedy Krieger Institute, Johns Hopkins Medical Institution
6. Dr. Max Horlbeck, Boston Children’s Hospital, Harvard Medical School
7. Dr. Arjun Natesan, Ultragenyx
8. Dr. Brittany Simpson, St. Jude Children’s Research Hospital, Le Bonheur Children’s Hospital, University of Tennessee
9. Jeff Trotter, J Trotter Research & Consulting
10. Dr. Rosanna Weksberg, The Hospital for Sick Children (SickKids), University of Toronto

The discussion focused on defining research priorities, strengthening community resources, and ensuring that future efforts remain aligned with the needs of individuals and families affected by Kabuki syndrome.

KSF Initiatives Update

The meeting began with updates on several major KSF initiatives, many of which were directly shaped by feedback from previous Advisory Boards meetings. 

Updates included:

• Current status and next steps for the Kabuki Syndrome Outcome measure and biomarker Consortium (KSOC) to support clinical trial readiness.
• Progress on developing a research registry to collect community-reported data and better understand the lived experience of individuals with Kabuki syndrome.
• Ongoing work to foster a research ecosystem that supports collaboration among researchers, clinicians, and industry partners to accelerate progress in the field.

Defining Future Research Priorities

Advisors then considered what the next bottlenecks are to advancing therapies for Kabuki syndrome. Clinical trial readiness emerged as a key gap, particularly building on the progress made through KSOC with early in-human studies that can validate biomarkers and outcome measures. Other priorities included stronger preclinical testing across both mouse and human cell models and clearer clinical endpoints.

The group also highlighted the importance of expanding disease models beyond the current Kmt2d betaGeo mouse model and integrating human-derived systems to better capture the complexity of Kabuki syndrome biology. Better understanding how genetic changes affect symptoms and identifying clinically actionable patient populations were also viewed as key priorities for the future.

Advisors also discussed the current therapeutic landscape. The group reaffirmed that epigenetic modulators, like LSD1 inhibitors, and small molecules remain the most promising near-term therapeutic approaches, given the biology of Kabuki syndrome and the current state of the field. Gene-targeting strategies, such as AAV-based therapies, CRISPR technologies, and ASOs, hold longer-term potential, but advisors felt the field is not yet at a point where these should be prioritised over other approaches. Key considerations include the complexity of delivering these therapies safely and effectively, the infrastructure required to support clinical trials, and the need for more preclinical evidence specific to Kabuki syndrome.

The group also discussed opportunities to continue expanding the Kabuki syndrome research ecosystem by supporting new investigators.  Building a stronger and more connected research community remains essential to accelerating discovery and therapeutic development.

These discussions will help inform KSF’s future research strategy and areas of investment as the field continues to evolve.

Resources for the Community

Another important topic was the development of practical resources for families and clinicians, including discussion on the value of establishing Centers of Excellence for Kabuki syndrome. The continued progress on the Clinical Management Guidelines for Kabuki syndrome was also highlighted, with the group aiming for journal submission before the end of this year and publication hopefully to follow in 2027.

KSF is grateful to all of the advisors who contributed their time, expertise, and thoughtful perspectives during this meeting. These conversations play a critical role in helping shape the future of Kabuki syndrome research and care.