First-Ever Kabuki Syndrome Type 2 Drug Screen Funded by the Kabuki Syndrome Foundation

We are proud to announce a first-of-its-kind drug screening study focused on Kabuki syndrome type 2. With an investment of $66,500, the Kabuki Syndrome Foundation (KSF) has partnered with Unravel Biosciences to identify repurposed drugs that could help treat individuals with a mutation on the KDM6A gene, which can cause Kabuki syndrome type 2.

While the majority of Kabuki syndrome research to date has focused on type 1 (associated with the KMT2D gene), this study brings much-needed attention and hope to people with the less prevalent type 2. This inclusivity in our treatment pipeline was made possible by the generosity of our donors and our shared commitment to advancing treatment for everyone in the Kabuki syndrome community.

Accelerating Kabuki Syndrome Type 2 Treatments Through Drug Repurposing

Drug repurposing involves taking medicines already approved for other conditions to see if they might also help Kabuki syndrome. Since these drugs have known safety profiles, the path to potential treatment is often faster and less costly. 

This study uses a simple, at-home nasal swab (just from the front of the nose) to collect samples from 20 individuals with Kabuki syndrome type 2, along with an unaffected person of the same sex living in the same household.  Unravel will analyze these samples to create a digital profile of each participant’s RNA. (RNA is a molecule that helps carry out the instructions written in our DNA.)

Using this RNA data, Unravel’s proprietary AI platform will identify patterns in gene activity and digitally predict existing drugs that may help correct the disrupted biological pathways involved in Kabuki syndrome type 2.  The results delivered to KSF will include detailed information about gene expression, affected biological pathways, and a list of potential repurposing drug candidates to explore further. Some of these predicted candidates may overlap with those identified in other drug screens for Kabuki syndrome type 1, potentially reflecting common biological features between the two types. Our goal is to ultimately identify treatments with the broadest reach across our entire community.

Advancing a potential treatment from the lab to clinical trials can take many years and require millions in funding. Repurposed drugs often offer a faster, more cost-effective path, with regulatory agencies providing streamlined approval processes for these candidates. Small, early-stage studies like this one are critical: they help identify promising leads and allow us to focus resources where they can have the greatest impact.

Recruitment Open to Kabuki Syndrome Type 2 Families 

*Recruitment is now closed, as of August 2025. Please join Kabuki Count to be notified of future studies and clinical trials.*

If you are interested in being one of the 20 participants, please complete the forms below as soon as possible. Spots are limited and secured on a first come first serve basis. Who can join:

• The person with Kabuki syndrome must have a genetic diagnosis of Kabuki syndrome type 2 caused by a mutation on the KDM6A gene. 
• Both males and females are eligible.
• A person of the same sex, living in the same household, who is not affected by Kabuki syndrome must also submit a sample to be used as a control.
• This study is open internationally. 

If you are interested and eligible, please complete these three short forms:

• Consent form for the PERSON WITH KS signed by them or by parent/legal guardian, whichever is applicable.
• Consent form for the UNAFFECTED SAME-SEX CONTROL, usually a parent or sibling of the same sex as the person with KS.
• Registration form – only one per household. 

As soon as Unravel receives these forms, they will ship a kit to your home containing nasal swabs, instructions, a prepaid return label, and an envelope. The person with Kabuki syndrome and the unaffected relative will then need to swab their noses (not deep) and mail the kit back to Unravel.

If you have any questions or need help, please contact Unravel’s clinical research associate: Bridget at bridget.maynard@unravel.bio

Have you already signed up and received your kit? Please swab and return your samples ASAP to secure your spot in this novel study.

Data Drives Progress for the Entire Kabuki Syndrome Community

By driving this project, we are not only supporting people with Kabuki syndrome type 2, but contributing to progress that could benefit everyone affected by Kabuki syndrome. The more we learn about the underlying biology of Kabuki syndrome, the better we can identify treatment targets that address common features across both types. 

Funding treatment-focused research helps refine our understanding of this complex condition and lays the groundwork for therapies that are more precise, more effective, and more inclusive. It’s one more step in our mission to build a diversified treatment pipeline and ensure no one is left behind.