Research is the key to understanding and treating the symptoms of Kabuki syndrome.

Each unique person is part of our community’s power to drive research – no matter if your medical chart says “mild” or “severe” or type 1 or 2 or both. Your story and your samples matter.

KSF is here to partner with you and help people with Kabuki syndrome reach their greatest potential. We are guided by our roadmap to treatments: LEAP for Kabuki Syndrome, that keeps your needs at the center. Together we CAN find treatments faster.

LEAP: Our Roadmap to Treatments

LEAP is how we unlock the brightest future possible for people with Kabuki syndrome. We identified our community’s greatest needs, analyzed gaps in current research, then created a plan that addresses those gaps and enables treatment development for people with Kabuki syndrome around the world.

We’ve secured and designated over $2,000,000 to support LEAP. Every dollar counts as we aim to raise $3,500,000 over the next two years.

LEAP is an evolving roadmap to treatments for Kabuki syndrome. These goals reflect our Phase 1, June 2023 – December 2025 strategy and progress.

 

LEARN

Learning more about the root cause of symptoms by awarding collaborative grants.

ENABLE

Enabling collaboration to drive more efficient research and improve patient experiences.

ACCELERATE

Accelerating promising therapeutic candidates by supporting studies that advance therapies from the lab to the patient.

PREPARE

Preparing for clinical trial by identifying, engaging and empowering patients to participate in research.

With your support, we can make the LEAP to treatments.

$2,348,000

67% Raised of our $3,500,000 Goal!

 Explore our impact reports to see more milestones our generous donors and active community have made possible.

Our interactive events and informative resources ensure our community is kept up-to-date and at the heart of our roadmap to treatments. 

How Our Community Drives Our Actions

KSF is committed to driving patient-centered research – scientific progress that meets the community’s priorities as defined by the community.

KSF’s crowdsourcing surveys are designed to be very short, easy to complete, and incorporate input from our community, advisory board, and industry experts. By asking the right questions, we can readily understand and share community opinions to keep patients at the center of research efforts.

+ 2021 Crowdsourcing Survey Results – The Symptoms that Most Significantly Impact Families

+ 2022 Crowdsourcing Survey Results – Planned Expansion of the Modified Atkins Diet Clinical Trial

Why Patient & Family Participation is Critical

Patient-Centered Research

Patient-Centered Research

Dr. Brittany Simpson highlighted the importance of patient-centered research at our 2021 Research Conference.

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KSF's Crowdsourcing Surveys

KSF's Crowdsourcing Surveys

In 2022, your participation in KSF’s survey led to the planned expansion of the dietary clinical trial. Sign up so you don’t miss future opportunities! 

2022 Results
Your Role in Clinical Trial Design

Your Role in Clinical Trial Design

Dr. Adam Hartman from the NIH illustrates why patients and their families are key to clinical trial design at our 2022 Research Conference.

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Clinical Trial Development

Clinical Trial Development

Dr. Jacqueline Harris is preparing for the HOPE clinical trial with ORYZON. Learn how we can all support and will all benefit from this phase of research in her 2023 conference presentation.

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What is Kabuki Syndrome? And How Could It Be Treatable?

Thankfully, two genes that cause Kabuki syndrome have been identified. Symptoms have been successfully treated in mice, and we have a plan to find therapeutics for everyone with Kabuki syndrome.