KABUKI SYNDROME PATIENT REGISTRY

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The Kabuki Syndrome Patient Registry is LIVE!

Data drives research! Kabuki Syndrome patients and caregivers are invited to participate in the Kabuki Syndrome Patient Registry. The registry is open to patients around the globe and participation is FREE!

Data from the registry may be used in de-identified aggregate form to advance the understanding and treatment of Kabuki Syndrome. Some surveys may only be available to patients with a specific genetic diagnosis, while others may be open to both clinically and genetically diagnosed patients.

This is an ongoing registry and additional surveys will be added over time. We anticipate it taking patients 15 minutes to one hour to complete the initial registry enrollment. Participants can complete the registry and surveys in one or multiple sittings. Surveys can be updated over time and include questions related to diagnosis, underlying conditions, milestones, medications and more. 

  *What is a Patient Registry?

A patient registry is a collection of standardized information about a group of patients who share a condition and is used for a variety of purposes such as conducting natural history studies and supporting disease specific clinical trial recruitment.

 * What is the purpose of the Kabuki Syndrome Registry?

One of the most important purposes of the Kabuki Syndrome Registry is to bring the Kabuki syndrome community together and collect data which could be used to create therapeutics and improve the quality of life for patients. Some other goals of the Kabuki Syndrome Registry are to:

  • Conduct a prospectively-planned natural history study that will result in the most comprehensive understanding of Kabuki syndrome and its progression over time.

  • Characterize and describe the Kabuki syndrome population as a whole.

  • Assist the Kabuki syndrome community with the development of recommendations for standards of care.

  • Assist researchers studying the pathophysiology of Kabuki syndrome.

  • Assist researchers studying interventional outcomes.

  • Support the design of clinical trials for new treatments.

 * Who can join the study?

This study is open to individuals of any age with a confirmed diagnosis of Kabuki syndrome.

 

Please refer to the full Patient Registry FAQ here for more information. 

View a step-by-step of the Registration Procedure here.

For additional questions, please email registry@allthingskabuki.org.

Empowering families to drive research!