KSF Launches Kabuki INSIGHTS: The Kabuki Syndrome Registry and Data Hub
The Kabuki Syndrome Foundation is proud to announce the launch of Kabuki INSIGHTS, a global research registry and data hub for people with Kabuki syndrome and their families.
Kabuki INSIGHTS brings together patient- and caregiver-reported information to support research, improve understanding of Kabuki syndrome over time, and inform future clinical and therapeutic efforts. Each person who participates can expand the base of knowledge about Kabuki syndrome by contributing their lived experience and medical history across ages and stages of life.
Kabuki INSIGHTS is open to individuals of any age with a clinical, genetic, or molecular diagnosis of Kabuki syndrome, as well as caregivers participating on their behalf. Participation is voluntary and the study is not intended to guide individual medical care.
What is Kabuki INSIGHTS?
Kabuki INSIGHTS, short for INtegrated registry Study for Insights into Genetics, Health, and Therapeutic Strategies in Kabuki syndrome, is a research study that collects real-world information from individuals and families affected by Kabuki syndrome worldwide.
Participants contribute information through online surveys. When available, participants may also choose to connect their electronic health records, which can add clinical context and reduce the need for repeated data entry. Electronic health record connection is optional, and survey only participation is always welcome.
How Participation Works
Participation takes place entirely online and does not involve sample collection, medical procedures, or in-person visits. Surveys can be completed on a phone, tablet, or computer, and participants can take part at their own pace.
Information shared through Kabuki INSIGHTS is de-identified before being used for research, meaning personal details are removed to protect privacy. Data are stored in secure systems and access is governed to protect participant confidentiality.
Why Kabuki INSIGHTS Matters
Kabuki syndrome is rare, and understanding how it affects individuals over time requires information from across the community. Kabuki INSIGHTS was created to help bring this information together in one place.
Data contributed through Kabuki INSIGHTS supports research aimed at understanding symptoms, health outcomes, and unmet needs across the lifespan. Information shared today may also support future research questions and help ensure that community experience remains central as new studies and opportunities emerge.
Participants may receive INSIGHTS Snapshot updates that summarize what the community is sharing at a group level using combined, de-identified data. Kabuki INSIGHTS does not provide individual research results or medical advice.
You can read more about INSIGHTS here or watch our research team walk through joining.
Enrollment is now open!