To drive research efforts that show promise to treat, prevent or cure Kabuki Syndrome through fundraising, knowledge-sharing and collaborating with researchers around the world.
WHAT IS KABUKI SYNDROME?
Kabuki Syndrome is a rare, multi-system disorder characterized by multiple abnormalities including distinctive facial features, growth delays, varying degrees of intellectual disability, and skeletal abnormalities. A wide variety of additional symptoms affecting multiple organ systems may occur, and vary from one person to another.
To date, researchers have identified a mutation in one of two genes that leads to Kabuki Syndrome. Males and females are affected equally and the syndrome is found in all ethnic groups. The incidence of Kabuki Syndrome has been estimated to be at least one in 32,000 births in the general population. With increased availability of gene testing, it is expected that two or three times as many cases may be properly diagnosed. There is currently no cure for Kabuki Syndrome.
Source: National Organization for Rare Disorders
Participate in research NOW! The 2022 Crowdsourcing Survey is open! In just 10 minutes, you can drive patient-centered research!
KSF uses this tool to better identify and accelerate clinical trials that are important to the Kabuki syndrome community. This survey works well on mobile but may be easiest on a laptop/desktop.
The results of our 2021 survey led KSF to award a $125K grant to create a tool to measure neurological symptoms in Kabuki syndrome in clinical trials. These new questions are also based on the community priorities identified in our 2021 survey. We can't wait to hear from you! The survey will close on July 7, 2022.
Recorded presentations and slides from the 2021 Research Conference are now available for viewing!
Oryzon announces $1 million grant from Kabuki Syndrome philanthropists to support a precision medicine Phase I/II trial with vafidemstat
First clinical trial in precision medicine with vafidemstat in neurodevelopmental diseases
Multicentric study to assess the efficacy of vafidemstat in Kabuki Syndrome patients
Expected to start in early 2022
In collaboration with the Kennedy-Krieger Institute
KSF WALL OF ACCOMPLISHMENTS
It’s time to brag! Share your achievements with the community!
We all know that Kabuki syndrome patients are warriors. Despite the many challenges they face, they continue to amaze with their milestones and achievements. We want to celebrate those moments with the community. Maybe it was eating solids for the first time, taking those first steps, riding a bike, reading a book, or singing a song. Share milestone moments on the KSF Wall of Accomplishments! We guarantee that joy will be felt by others, especially newly diagnosed families.
Q&A PANEL OF ADULTS WITH KABUKI SYNDROME
Many caregivers of young children with Kabuki Syndrome are overwhelmed by the early medical and/or developmental challenges their child experiences, making it difficult to envision their child's trajectory into adulthood. The video below showcases a collection of incredible adults with Kabuki Syndrome who share their personal journey. We are so inspired by this group's self advocacy and accomplishments and know it will spread inspiration to all families in our community!