Expanded Drug Repurposing Study Now Includes Kabuki Syndrome Type 1

We are excited to share an important update on our drug repurposing study with Unravel Biosciences. Building on the success of our initial investment, the Kabuki Syndrome Foundation (KSF) is committing an additional $66,500 to expand this study to include individuals with Kabuki syndrome type 1.

This expansion reflects our continued commitment to advancing treatment-focused research for the entire Kabuki syndrome community.

Expanding the Study to Kabuki Syndrome Type 1

The original study focused on Kabuki syndrome type 2, caused by mutations in the KDM6A gene, bringing much needed attention to a historically underrepresented group within our community. 

Thanks to strong community engagement and the generosity of our donors, we are now able to expand this study to also include individuals with Kabuki syndrome type 1, caused by mutations in the KMT2D gene. Studying both types of Kabuki syndrome in parallel can help researchers better understand which biological pathways are shared and which are distinct. These insights  are essential for developing treatments that are meaningful and effective for people with Kabuki syndrome.

How the Study Works

This study is completed entirely at home using a simple nasal swab collected from the front of the nose. Samples are collected from:

• A person with Kabuki syndrome
• An unaffected family member of the person with Kabuki syndrome to serve as a control

Unravel Biosciences analyzes these samples to create an RNA profile for each participant. RNA is a molecule that helps carry out the instructions in our DNA and provides insight into how genes are functioning in the body.

Using these RNA profiles, Unravel’s AI-driven system identifies differences in gene activity in people with Kabuki syndrome. The algorithm then predicts supplements and FDA-approved drugs that may help regulate the affected biological pathways. Results shared with KSF will include information about gene activity, affected pathways, and a list of possible treatments for further study.

To strengthen this study even further, we are prioritizing community members who have already participated in KSOC. This allows Unravel’s RNA profiles to be compared with de-identified data already collected through KSOC, helping create a richer and more informative dataset.

Why Drug Repurposing Matters

Developing a new treatment from scratch can take many years and cost millions of dollars. Drug repurposing offers a faster and more cost-effective path by leveraging medications that already have known safety profiles. Early stage studies like this one help identify the most promising leads, allowing us to focus future research and resources where they can have the greatest potential impact.

Who Can Participate

We are now accepting interest forms from KSOC participants affected by Kabuki syndrome type 1.

The person with Kabuki syndrome must:

• Have a diagnosis of Kabuki syndrome type 1 (KMT2D) 
• Have participated in KSOC
• Be between 3 and 25 years old at the time the nasal swab is collected
• Be of any sex, ethnicity, or nationality

The unaffected control must:

• Be a blood relative of the person with Kabuki syndrome
• Not have a Kabuki syndrome diagnosis
• Be the same sex as the person with Kabuki syndrome
• Live in the same household as the person with Kabuki syndrome

Submit Interest Form

If you are interested in participating in this study, please complete the interest form. A representative from KSF will reach out to you with additional information about next steps.  Enrollment is limited and will be filled on a first come, first served basis, so we encourage you to submit your interest form as soon as possible.  

If you have questions about this study or your eligibility, please contact jessica.w@kabukisyndromefoundation.org.

Advancing Kabuki Syndrome Research Together 

By expanding this study to include Kabuki syndrome type 1, we are strengthening our treatment pipeline and deepening our understanding of the biology underlying Kabuki syndrome. Every study like this brings us closer to meaningful, targeted therapies and helps ensure that progress benefits as many individuals and families as possible.

Thank you to our donors and community members who make this work possible.