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.