Kabuki INSIGHTS: The Kabuki Syndrome Data Hub

Kabuki INSIGHTS collects patient- or caregiver-reported information at enrollment and through follow-up surveys. This may include:

• Basic demographic information
• Diagnosis details
• Health coverage information
• Lived experience, symptoms, and challenges over time

When available, connected medical records can add clinical context. All data are handled in accordance with privacy and security standards.

Anyone with a Kabuki syndrome diagnosis, or their caregiver, can participate if able to provide informed consent.  Participation is open regardless of age, race, sex or location.

Kabuki INSIGHTS and Kabuki Count are two different KSF initiatives.

Kabuki INSIGHTS is KSF’s research registry - our data hub. By taking part in Kabuki INSIGHTS, families share information about symptoms and lived experience to help researchers better understand Kabuki syndrome and how it changes over time.

Kabuki Count is KSF’s contact registry - our global census. By registering, families help show how many people are living with Kabuki syndrome around the world and can stay connected with KSF about research and opportunities.

You can choose to join Kabuki INSIGHTS, Kabuki Count, or both - they are separate initiatives, and joining one does not automatically enroll you in the other.

De-identified data is information that has had your personal details removed, such as  your name, address, and contact information, so that researchers who receive it cannot identify you. Your data is labelled with a code instead. Kabuki INSIGHTS keeps a secure, separate record linking that code to you, so that we can add new information over time and act on your request if you decide to withdraw.

Because Kabuki syndrome is rare, we cannot promise that data could never be linked back to an individual. We reduce this risk by removing personal details, reviewing every dataset before it is shared, and requiring every researcher to sign an agreement that prohibits any attempt to identify participants.

De-identified data can be used by researchers to study health patterns and make discoveries while protecting your privacy.

Your clinical research ID (CRID) is a unique, universal, patient-generated identifier that can allow your data to be linked across research projects without revealing any personally identifying info, ultimately accelerating research AND protecting your privacy.

You can generate or retrieve your 8-digit alphanumeric CRID at thecrid.org. Once you have created an account and/or logged into the website, you can find your CRID by clicking on MyCRID.

Yes. A CRID is required to enroll in Kabuki INSIGHTS because it lets your information be linked across research studies without using your name, protecting your privacy. If you don’t already have one, you can create one online in just a few minutes.

Surveys capture lived experience and day-to-day challenges that medical records often miss. This information is essential for shaping research priorities.

Electronic health records, or EHRs, are digital versions of your medical records. They store health information such as diagnoses, test results, medications, and doctor visits in a secure computer system. EHRs help doctors and healthcare teams share information more easily and provide better care.  At this time, because of legal and logistical constraints, we can only connect EHRs from patients with medical records in the United States.

Connecting medical records through your EHR adds important clinical context to the survey responses you share in the data hub, such as diagnoses, procedures, and test results.  These records can be de-identified and combined with records from other people with Kabuki syndrome to help researchers better understand Kabuki syndrome over time. 

You can choose to connect and securely share your electronic health records through your existing patient portals, such as MyChart, FollowMyHealth, or AthenaPatient, at each medical institution where you receive care.

To do this, you will log in directly to your patient portal and authorize the transfer. Data are transferred only after you have authenticated within the portal. Only the records you choose to share are transmitted to the registry data hub.

We recommend reconnecting your EHR to the data hub at least once a year. People with more complex medical needs may choose to reconnect more often.

No. Survey participation alone is always welcome. However, connecting your EHR adds important clinical context that helps researchers better understand Kabuki syndrome over time. While EHR connection is optional, we encourage participants to connect their medical records when available, and at their discretion.

De-identified data are analyzed to improve understanding of Kabuki syndrome and to support current and future research. Findings are shared back with the community through INSIGHTS Snapshot updates. Individual-level data are not shared publicly. 

The Kabuki Syndrome Foundation may also use your contact information to send you relevant research opportunities and general Kabuki syndrome updates. Your identifiable data will not be shared with researchers without your consent. You can manage your communication preferences at any time.

Yes. Participation is voluntary, and consent can be withdrawn at any time.

This study involves minimal risk. Since it is an observational registry, we do not perform any treatments, clinical procedures, or behavioral interventions. The main potential risk is loss of confidentiality - meaning that your personal information could be seen by someone who shouldn’t have access.

Your privacy is protected through multiple safeguards, including secure, encrypted data systems and role-based access controls that limit data access to authorized individuals only. Audit trails are used to track who accesses information, and data use is overseen through a governance framework. If any unexpected problems occur, including data security issues, they are addressed and reported in accordance with institutional policies and regulatory requirements.

No. Kabuki INSIGHTS is a global data hub and is open to individuals and families worldwide. Anyone with a diagnosis of Kabuki syndrome can participate, regardless of where they live.

In the UK, health records are typically held across NHS systems (such as GP and hospital records) rather than a single patient-accessible  electronic health record that can easily connect to third-party research platforms. At this time, direct connection to NHS health records may be limited or not available.  If you have personal electronic copies of your medical records, you can manually upload them to the data hub.

You can still participate in Kabuki INSIGHTS through surveys, which are a core and valuable part of the registry. Survey-only participation is included in analysis and plays an important role in helping researchers understand lived experience.

As health data access and integration options evolve, the Kabuki Syndrome Foundation will continue to explore ways to support broader record connections in the future.

Kabuki INSIGHTS is currently available in English. We are working toward expanding language options in the future.

All translated study materials must be reviewed and approved by the IRB before they can be offered. If English is not your primary language and you have questions about the study, please contact the Kabuki INSIGHTS research team at research@kabukisyndromefoundation.org

Over the years, our Kabuki syndrome community has explored several ways of collecting information to advance Kabuki syndrome research. Those efforts helped us learn what works well, what researchers and families value most, and where there were gaps.

Kabuki INSIGHTS was created to build on those lessons and provide a long-term, research-ready registry designed to collect real-world information over time, with strong governance, privacy protections, and the flexibility to support future research questions. Kabuki INSIGHTS is intended to be a durable foundation for research going forward.

KSF remains grateful to families who participated in earlier initiatives - their contributions were important in shaping Kabuki INSIGHTS and advancing the field.

Kabuki INSIGHTS is guided by a Steering Committee convened by the Kabuki Syndrome Foundation (KSF). The Steering Committee brings together scientific, clinical, community, and industry expertise to help ensure the registry is well designed, responsibly governed, and useful for future research.

Steering Committee members include:

• Clara Tang, PhD – Chair
  Chief Scientific Officer at the Kabuki Syndrome Foundation and Principal Investigator (PI) of Kabuki INSIGHTS.
• Matthew McAndrew – Community Representative
  Father to Aidan (boy diagnosed with Kabuki syndrome type 1) and Maya, Founder of Bubbly Consulting, Research and Technology Advisor at KSF and Trustee at Kabuki Syndrome UK.
• Professor Margaret P Adam, MD – Clinical Geneticist and Researcher
  Seattle Children’s Hospital and the University of Washington.
• Dr. Brittany Simpson, MD – Clinical Geneticist and Investigator
  Clinical Geneticist at Le Bonheur Children’s Hospital, Assistant Professor, the University of Tennessee Health Science Center; Clinical Investigator in Neurogenetics, St. Jude Children’s Research Hospital, Center for Experimental Neurotherapeutics
• Jeff Trotter, MBA – Industry Advisory Board Representative
  Principal, J Trotter Research & Consulting, with more than three decades of experience in health economics, outcomes research, patient registries, and real-world evidence generation across academia, industry, and contract research organizations.

The Steering Committee provides guidance on the scientific direction, governance framework, and appropriate use of data collected through Kabuki INSIGHTS. Steering Committee members do not receive access to identifiable participant information unless required for their role and approved as part of the study.

The registry is maintained by members of the KSF registry team.

Registry team members include:

• Dr. Jessica Weatherstone, PhD- Associate Director of Research and Community Engagement
• Dr. Nam-phuong Nguyen, PhD- Data Lead
• Caroline (Callie) Sullivan, MS, CGC- Genetic Counselor

All study team members take annual training on how to protect the rights of research participants and ensure your data remains confidential and safe.

Kabuki INSIGHTS is sponsored by the Kabuki Syndrome Foundation and conducted under Institutional Review Board (IRB) oversight to protect participant rights, privacy, and safety.