Frequently Asked Questions
The KAT6A/KAT6B Patient Registry
Frequently Asked Questions
Thank you for your interest in KAT6A/KAT6B Patient Registry. Please see below some frequently asked questions. If you have additional questions that are not listed, please contact The Registry Staff at registry@kat6.org!
1. What is the purpose of the KAT6A/KAT6B Patient Registry?
The purpose of the KAT6A/KAT6B Patient Registry is to bring the KAT6A/KAT6B Syndrome community together and collect data. Some of the goals of the KAT6A/KAT6B Patient Registry are:
- To describe the people who have KAT6A/KAT6B Syndrome and better understand the stages of the disease and the different ways it affects people, including diagnosis, treatment, medical history, social and economic environment, and treatment outcomes.
- To understand how KAT6A/KAT6B Syndrome changes over a person’s lifetime and to learn about clinical practice patterns and variations over the course of treatment.
- To help develop best practices, management guidelines, and recommendations so clinicians can provide the best care to improve quality of life and outcomes.
- To identify people with KAT6A/KAT6B Syndrome who may be willing to take part in additional research studies or clinical trials. Participation is optional.
2. What is a Patient Registry?
A patient registry is a collection of standardized information about a group of patients who share a condition. The information may be used for various purposes such as conducting natural history studies and supporting disease-specific clinical trial recruitment.
3. What is a Natural History Study?
A natural history study is designed to track the course of a disease over time. It includes individuals with a specific medical condition or disease and may also include those at risk. This type of research identifies demographic, genetic, environmental, and other information common within a condition. It can also illustrate differences in symptoms and progression among individuals. Natural history studies may be used to improve patient care best practices and support clinical trial recruitment. Patient registries often serve as a main source of natural history data.
4. How is the data collected?
Data is collected through a secure web-based application (accessible via computer, tablet, or phone) developed by the National Organization for Rare Disorders, Inc. (NORD®). Study participants complete surveys developed according to study standards and in collaboration with disease-specific experts.
5. What types of data will be collected in the KAT6A/KAT6 Patient Registry?
The data collected includes but is not limited to:
- Socio-demographics
- Medical and diagnostics
- Treatment and disease progression
- Management of care
- Quality of life
6. What is a Research Study Sponsor?
A Research Study Sponsor is an individual, company, institution, or organization responsible for selecting trained researchers, initiating and managing the study, and ensuring compliance with regulations. The sponsor of this registry is The KAT6 Foundation.
7. Who is The KAT6 Foundation?
The KAT6 Foundation supports individuals and families living with KAT6A/KAT6B Syndromes around the world. The foundation advances scientific research aimed at developing treatments and spreads awareness to support better recognition, treatment, and study of these syndromes.
8. What is a Principal Investigator?
The Principal Investigator (PI) is responsible for the design and conduct of the research project or study. The PI oversees all aspects of the registry, its staff, and the research conducted using its data.
9. Who is a Study Participant?
A Study Participant is an individual whose information is entered into the registry. Adults of legal age provide their own consent and input their information. Minors or adults requiring assistance have a legally responsible person (Caregiver/LAR) provide consent and enter information on their behalf.
10. What is a Legally Authorized Representative (LAR)?
An LAR is someone legally authorized to consent and enter registry data for another individual. This may include a parent, grandparent, spouse, caregiver, or guardian. LARs enroll on the IAMRARE platform using a Caregiver account and act as the data reporter.
11. What is a Designated Representative?
A Designated Representative is a legal adult who was the caretaker of an individual who passed away from KAT6A/KAT6B Syndromes. They must have been involved in the person’s care and may enter retrospective data about the deceased individual.
12. What is an Informed Consent Form (ICF)?
An ICF provides potential participants with key information about the registry, including risks, benefits, data usage, and privacy protections. Participants must electronically sign the ICF before entering data.
13. After consenting, can a Participant choose to stop participating in the study?
Participants may withdraw at any time. However, researchers may continue to use data collected prior to withdrawal. Data already shared with researchers cannot be retrieved or removed.
14. What is an Institutional Review Board (IRB)?
An IRB is a board that reviews, approves, and monitors research involving people to ensure the protection of participant rights and welfare. It may also be called an Ethics Committee (EC) or Research Ethics Board (REB).
15. What is a Registry Advisory Board?
A Registry Advisory Board is a committee of scientists, physicians, and patient advocates who oversee study conduct, advise on survey development, review data use, and evaluate research requests. They also review any protocol deviations and ensure they are reported to the IRB.
16. Who can join the study?
Anyone diagnosed with KAT6A/KAT6B Syndromes who meets inclusion criteria may participate.
17. Is there a cost to participate?
There is no cost to join this study.
18. Is there a payment for participating?
You will not be paid for the information you provide.
19. How long will this study last?
The registry will typically be open for at least five years. Participants will be asked to return periodically to update their information.
20. Can data be collected worldwide?
Yes. The online platform allows participation from anywhere in the world. Individuals outside the U.S. should note that their countries’ privacy laws may differ. The registry follows U.S. data protection requirements.
21. What are the GDPR considerations?
Non-U.S. participants receive the same privacy protections as U.S. participants. Individuals from the European Union and Switzerland have specific data rights, as outlined in the informed consent document.
Participants from these regions may:
- Request access to, correction of, or deletion of personal data
- Receive data in a portable format
- Restrict or withdraw permission for data processing
- Lodge a complaint with a supervisory authority
22. Where is the data stored?
NORD stores registry data on encrypted servers in the U.S. or Canada. Servers meet industry standards and comply with U.S. and international regulations, including GDPR.
23. Is the data safe?
The registry follows strict government guidelines to protect patient information. Data is encrypted during transmission and storage. All server communications are encrypted. Although electronic data always carries minimal risk, security measures significantly reduce this likelihood.
24. Who owns the data?
The study data are owned by The KAT6 Foundation, which determines how and with whom data is shared. NORD staff may access data for platform support and statistical purposes, as outlined in the informed consent.
25. Who will have access to Protected Health Information (PHI)?
PHI is stored on secure, password-protected servers. Access is limited to:
- Approved members of the KAT6A/KAT6B Patient Registry research team
- NORD staff when technical support is required
- NORD researchers conducting IRB-approved, cross-disease research (with sponsor approval)
Researchers receive only the minimum data necessary and must sign a Confidentiality Agreement before receiving PHI.
26. How is the registry maintained?
The registry is hosted by NORD, which provides ongoing technical support. The KAT6 Foundation manages the registry’s daily operations.
27. Who is NORD – the National Organization for Rare Disorders, Inc.?
NORD is an independent nonprofit improving the lives of people with rare diseases by supporting the community, accelerating research, raising awareness, providing trusted information, and influencing public policy.
Learn more at https://rarediseases.org/.