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.

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.

Watch the Launch Recording!

Your Role in KSOC

We’re offering travel reimbursement to 90 families! KSOC appointments will be at one of four locations across North America with a Kabuki syndrome expert. Your participation in a one-day appointment helps create Kabuki syndrome biomarkers, accelerates the time it takes to find treatments, and improves our chances of clinical trial success. Your data can also support meaningful research by increasing understanding of Kabuki syndrome across the lifespan, improving our understanding of connections between mutation type and symptoms, and more.

Who Can Participate

90 people with Kabuki syndrome from all backgrounds, ages, and sex are invited to join KSOC to help the tools reflect the diversity found within Kabuki syndrome. 

  • Participants must have a molecularly confirmed genetic diagnosis of Kabuki syndrome, either type 1 (KMT2D) or type 2 (KDM6A).
  • Participants must speak, or be spoken to in, English at the level of a native speaker.
  • Participants from outside of North America who meet the above requirements can join KSOC.

KSF has secured funding so that all participants are eligible for travel reimbursement. The research coordinators can answer any specific questions about eligibility once you’ve connected with your institution of choice. If you/your child are a male with Kabuki syndrome type 2 (KDM6A), you will be directed to Kennedy Krieger Institute.

What to Expect

Participants can expect to spend one day at the institution. Here’s a breakdown of the next steps to take and your time as a KSOC participant. 

1. Contact the Research Coordinator

Choose the location that’s most convenient for you and submit the form. A research coordinator will contact you to schedule your appointment, including a clinical consultation, and to discuss reimbursement for travel and lodgings. 

2. Arrive at the Institution

Spend a full day with our team at the institution, including breaks. The research coordinator will let you know if you need to bring any paperwork and will also go over your consent to participate, answering any questions you may have throughout the day.

3. Meet the Expert

Review or develop your care plans with a Kabuki syndrome expert.

4. Provide Samples

Provide blood and urine samples, which are sent to the experts within KSOC for analysis to create biomarkers.

5. Complete Neuropsychological Testing

Participate in an assessment of skills and abilities related to brain function, like attention, problem-solving, and visual-spatial skills. The insights resulting from this testing can be shared with educators and other members of your care team. The research coordinator will further explain how this evaluation measures cognitive abilities and profiles; testing methods depend on age.

6. Complete EEG Where Applicable

At some locations, participate in non-invasive EEG recording. Using special stickers on the scalp, brain waves can be visualized and analyzed to be used as a biomarker.

7. Congratulations, you’ve helped accelerate treatments for Kabuki syndrome!

Your contribution helps us develop Kabuki syndrome specific tools that can measure treatment efficacy during clinical trials and improve our chances of clinical trial success. With your consent, additional researchers can access your anonymized data. Your data in KSOC can also support meaningful research by:

  • Accelerating the time it takes to get a therapeutic from the lab to the patients.
  • Providing insights into the connections between mutation type and symptoms.
  • Increasing understanding of Kabuki syndrome across the lifespan.
  • Supporting future research projects and helping identify new treatment opportunities.

How to Participate

To participate, complete the form below. You will then be connected with a research coordinator to discuss: 

  • Travel reimbursement 
  • Appointment scheduling 
  • Scheduling a clinic visit with the expert at the same time

If you/your child are a male with Kabuki syndrome type 2 (KDM6A), you will be directed to Kennedy Krieger Institute.

Where to Participate

Kennedy Krieger Institute with Dr. Jacqueline Harris
Baltimore, Maryland, US
Research coordinator: Jennifer Johnson

Holland Bloorview Kids Rehabilitation Hospital with Dr. Dr. Evdokia Anagnostou and Dr. Rosanna Weksberg*
Toronto, Ontario, Canda
Research coordinator: Alana Iaboni

Roya Kabuki Program, Boston Children’s Hospital with Dr. Olaf Bodamer
Boston, Massachusetts, US
Research coordinator: Natalie Formica

Seattle Children’s Hospital with Dr. Margaret Adam*
Seattle, Washington, US
Research coordinator: Dr. Margaret Adam

*These institutions plan to begin scheduling in 2024. Please complete the form below to express your interest at this time.

KSOC Recruitment Form - Your First Step to ParticipatingDownload the Recruitment Flyers

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

Why do we need outcome measures and biomarkers? 

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. 

Watch KSOC Perspectives: Experts & Patients

Who is Involved in the Consortium?

You! Specifically, we need 90 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 above, 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

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, 2): 

  • 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.

References

  1. Aiyenigba A, Abomo P, Wiltgen Georgi N, Bates I, Pulford J. Enabling research capacity strengthening within a consortium context: a qualitative study. BMJ Global Health. 2022 Jun;7(6):e008763.
  2. Klein JD, Kupferman ME. Li-Fraumeni syndrome presenting as mucosal melanoma: Case report and treatment considerations. Irish J, editor. Head & Neck. 2016 Oct 11;39(2):E20–2.
KSOC Recruitment FormWatch the KSOC Conference Recordings

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