The KAT6A/KAT6B Patient Registry is a comprehensive and secure database, compliant with U.S. Health information privacy laws and FDA regulations.

The purposes of the KAT6A/KAT6B Patient Registry are:

• Document and increase understanding of the full range of KAT6 characteristics
• Enable researchers to identify trends that generate new insights into KAT6A and KAT6B syndromes, and identify areas for additional study
• Facilitate partnerships with university researchers and pharmaceutical companies
• Guide the development of standards of care
• Expedite the completion of KAT6 clinical trials
• Allow participants to store their KAT6 medical data in one place
• Accelerate solutions for KAT6A and KAT6B syndromes
  

One of the most important ways you can support the KAT6 community is by joining our KAT6A/KAT6B Patient Registry - the only official record of KAT6 cases worldwide.

Joining the registry ensures our community is counted. Data from the registry can be used in de-identified aggregate form to help advance the understanding and treatment of KAT6A and KAT6B syndromes. You will be asked to provide details on topics such as developmental milestones, medications, behavior and other aspects of KAT6 syndromes. Depending on your personal story, the registry may take half an hour to one hour to complete. However, you do not need to complete the entire registry in one sitting.

What types of data will be collected in the KAT6A/KAT6B Patient Registry?

The registry collects data on the following topics:

• Socio-demographics
• Medical history and diagnostics
• Treatment and disease progression
• Management of care
• Quality of life

Video Links:

• What is a Registry?
• Janet Woodcock, Former Director CDER FDA on NORD Registry Program

The KAT6A/KAT6B Patient Registry follows strict government guidelines to ensure patient information is protected. The platform is served over HTTPS, meaning data is encrypted when sent from the user’s browser to NORD’s servers. The data is also encrypted while stored in the NORD database. Communications between the registry application server and the database are encrypted as well. As with any electronically submitted information, there is a very rare chance that privacy could be compromised; however, the registry and its security measures significantly minimize this risk.

For Researchers:

The KAT6A/KAT6B Patient Registry collects disease-specific natural history data about individuals with KAT6A and KAT6B syndromes, with the goal of improving the understanding of these syndromes and informing treatment development. Registry questionnaires were built from common data element standards and cover the following topics:

• Socio-demographics
• Medical history and diagnostics
• Treatment and disease progression
• Management of care
• Quality of life
• Developmental milestones
• Medications
• Behavior and other aspects of KAT6 syndromes

We are interested in sharing our data with you! If you would like access to the Patient Registry data for a research project, please contact our registry administrator at registry@kat6.org for more information. Access to Patient Registry data is contingent upon project approval by the KAT6A/KAT6B Patient Registry Advisory Board.

For any immediate questions, please email us at registry@kat6.org.