Thank you for joining KSOC!

Your ongoing participation is crucial in the pursuit of treatments for Kabuki syndrome. Your gift of time in the following studies can accelerate research and unlock brighter futures. Without you, progress is not possible.

Kabuki Count

How many people have Kabuki syndrome? YOU can help answer that question.

In less than three minutes, you can help show research partners the size of our community. This census is short and designed to be easy to complete. We need everyone to participate to show the strength of our global community! 

Be Counted

Ciitizen

In 10 minutes, help researchers better understand Kabuki syndrome and have your medical records in one place.

The medical records of people with Kabuki syndrome can reveal the natural history of this rare disease. Natural history describes the expected symptoms from birth to end of life. With this knowledge, we can create a roadmap of what to expect and find the best way to treat the life-altering symptoms of Kabuki syndrome.

Ciitizen is a digital platform that has developed a new method to make natural history studies easier. Ciitizen is part of the leading genetic testing firm, Invitae. This next generation study for Kabuki syndrome is expected to facilitate:

  • Informing clinical researchers how a disease changes over time
  • The connection between mutation types and symptoms to facilitate targeted therapies
  • Enabling better outcome measure selection for use in clinical trials
  • Speeding up the time to get therapeutics to patients and
  • The use of data as a placebo (instead of actual patients) in a clinical trial.

Become a “Kabuki syndrome Ciitizen” in less than 10 minutes. The person completing the form will be asked to upload a government-issued ID and the birth certificate of the person with Kabuki syndrome. When filling out the form, you can save your progress and return to complete these final steps! 

At this time, Ciitizen is only open to patients receiving care in the United States. Ciitizen is planning to expand to additional countries in the near future, and we look forward to keeping our global community updated.

Join Ciitizen

TALK Study

In 30 minutes, help develop an outcome measure for future clinical trials based on speech and language patterns. The TALK study is hosted by Boston Children’s Hospital.

Earlier studies have shown that Kabuki syndrome may have unique speech and language patterns. The TALK study aims to identify speech and language features that may be used as outcome measures for future clinical trials.

Individuals with Kabuki syndrome of any age with the ability to follow simple instructions (e.g. repeat a vowel, words) are eligible to participate. Email kabuki@childrens.harvard.edu to get started today. 

Email Boston Children's

Questions?

Ask your research coordinator today or contact us at any time. Thank you for your commitment to accelerating Kabuki syndrome research.

Email the KSF Team