KSOC is now enrolling!

By participating in the Kabuki Syndrome Outcome measures and biomarkers Consortium (KSOC), you can help prepare our community for clinical trial success. We’re developing Kabuki syndrome-specific tools that can measure the effects of potential treatments in future clinical trials.

Download the recruitment flyer to see where and how you can participate. We’re offering travel reimbursement to 150 families!

KSOC Recruitment Form - Your First Step to Participating

What is KSOC?

The Kabuki Syndrome Outcome measures and biomarkers Consortium (KSOC) is a new collaborative clinical research study created, funded, and led by the Kabuki Syndrome Foundation to develop tools that can help take potential therapeutics to human clinical trials. Multiple therapeutics are in the pipeline, but there are currently no Kabuki syndrome-specific tools that can measure the impact that these treatments can have on symptoms of Kabuki syndrome. We are leading an international team of clinical, research, and industry experts to accelerate the development of these tools known as outcome measures and biomarkers.

To start, KSOC aims to develop three potential biomarkers for Kabuki syndrome over the next two years.

Why do we need outcome measures and biomarkers?

Outcome measures and biomarkers specific to Kabuki syndrome are important to the success of future clinical trials.

There are currently no Kabuki syndrome-specific outcome measures or biomarkers. Outcome measures and biomarkers are key to measuring the effects of therapeutics in clinical trials and can help attract industry partners.

An outcome measure is a measurement that is used to determine the effect of a therapy, like a drug, has on a participant in a clinical trial. Outcome measures can be subjective (e.g., patient self-reported pain level) or objective (e.g., changes in blood pressure).

A biomarker is an objective, measurable value from patient samples like blood or urine. 

A biomarker must correlate, or change in relation to, a specific symptom of the disease and can be used as an outcome measure in clinical trials. Biomarkers can be used to diagnose a disease, show disease progression, quantify treatment response, and/or to evaluate drug safety. Biomarkers can show healthy or abnormal processes.

KSOC Can Unlock More Opportunities for Kabuki Syndrome Research

With the aim of validating outcome measures and biomarkers, KSOC will create access to a large, diverse patient sample pool by leveraging specialized expertise and resource sharing. This approach will increase the chances of successfully developing a biomarker and improve our potential to secure additional grants and funding. 

Dive deeper into some of the key benefits of a research consortium model (1): 

  • Access to more patients with Kabuki syndrome allows researchers to validate biomarkers and outcome measures in a larger and more diverse population, resulting in a more robust dataset.
  • A shared research infrastructure and organization umbrella facilitate implementation of a coordinated research strategy, leveraging specialized expertise and diversified perspectives to more effectively develop one or more biomarkers.
  • Distributing patient samples from a single site visit across multiple biomarker validation projects creates a better patient experience and speeds up the research process.
  • Pooling resources means an ability to have a greater impact, as well as share costs and risks. By leading a consortium, there are greater opportunities for research grants and publications. 

By embracing an international collaborative model, KSOC is poised to translate research into tools that can be used for future Kabuki syndrome clinical trials.

Even beyond validating outcome measures and biomarkers, KSOC can amplify our potential to support new discoveries and obtain more funding.

KSOC is part of LEAP, our ambitious $3.5 million, 2-year plan designed to unlock a brighter future for those affected by Kabuki syndrome.

Who is Involved in the Consortium?

150 individuals with diverse backgrounds of all ages who have a molecularly confirmed genetic diagnosis of Kabuki syndrome, either type 1 (KMT2D) or type 2 (KDM6A). With travel reimbursement and optional same-day clinic appointments, KSOC is designed to serve you while developing needed tools for Kabuki syndrome clinical trials. 

Research coordinators at each institution, listed here, will help you schedule your research appointment, optional clinical appointment, and discuss travel reimbursement. Before and during your appointment, you will interact with multiple professionals, including the research coordinator, neuropsychological expert, and data collection scientists. Each individual involved in KSOC is key to its success and so appreciated. We would also like to sincerely thank the funders of KSOC who have made this project possible.

The Consortium Director, Dr. Clara Tang manages and is the main point of contact for KSOC, ensuring that the projects are on track. Dr. Tang also serves as KSF’s Director of Research.

The KSOC Steering Committee includes:

  • Dr. Bruce Bloom, KSOC Chair and KSF Chief Scientific Officer
  • Dr. Margaret Adam, Seattle Children’s Hospital & University of Washington*
  • Dr. Evdokia Anagnostou, Holland Bloorview Kids Rehabilitation Hospital*
  • Dr. Olaf Bodamer, Roya Kabuki Program at Boston Children’s Hospital*
  • Dr. Jacqueline Harris, Kennedy Krieger Institute & Johns Hopkins University*
  • Dr. Rosanna Weksberg, SickKids & University of Toronto* 
  • Tara Ghandour, a funding party representative

These individuals make up the decision-making party of KSOC, providing overall leadership and direction for the consortium. *You will see one of these Kabuki syndrome expert researcher-clinicians when you attend the KSOC appointment. 

The KSOC Advisory Board features:

  • Dr. D. Winston Bellott, Whitehead Institute, Massachusetts Institute of Technology
  • Dr. Hans T. Bjornsson, University of Iceland & Johns Hopkins University
  • Dr. David Genevieve, Montpellier University
  • Dr. Barbara Handelin, 90 / 10 Institute, former-CEO of Audacity Therapeutics
  • Dr. Tjitske Kleefstra, Radboud University

These clinicians and researchers, as well as pharmaceutical and biotechnology experts, are using their expertise to help KSOC develop outcome measures and biomarkers. They offer valuable advice from outside the organization.

Watch the Fireside Chat with KSOC Researchers

More Ways to Drive Research

Kabuki Count

Kabuki Count

How many people have Kabuki syndrome? We’re answering this question with our global community to drive research. In less than three minutes, you can be added to our global census.

Be Counted
Participate from Home

Participate from Home

Discover research opportunities you can complete online, at home, from around the world. Or if you have an upcoming procedure, plan to send an “extra tube” of blood to a researcher.

Virtual Opportunities
Take Action

Take Action

Looking for other ways to support the roadmap to treatments? From volunteering with us to planned giving, we welcome everyone to play a role. It’s going to take all of us!

Take Action