Please review “Understanding Your Participation” below. By clicking the box “I agree to the terms and conditions and agree to participate in the Registry”, you will be providing your consent to participate in the Registry. Click on “Register” at the end of the page to create your account and begin completing the profile questionnaire.
UNDERSTANDING YOUR PARTICIPATION
What is the UCD-PA International Patient registry?
The Registry has been created to capture information about individuals of all ages who have a diagnosis of urea cycle disorder or propionic acidemia, and carriers for OTC deficiency. The Registry is a unique online tool that helps mobilize UCD and PA patients, families, clinicians and researchers to work together to improve the knowledge of these disorders. This knowledge may help accelerate research for new treatments and improve care.
The Registry establishes a global resource of information gathered from patients and families like you who are affected by UCD or PA. The type of information collected will include diagnosis, symptoms, treatment, barriers to care and quality of life. This information is crucial to developing new treatments. The Registry will also provide you with access to information about research studies and clinical trials for new treatments that you/your child may be eligible for. By participating in the Registry and sharing your experiences, you are helping to create a valuable research resource that does not currently exist.
What are the benefits of collecting patient information in a registry?
The goal of the Registry is to empower all affected patients and families to become more informed about their disorder and to have an impact on future research. Although there is no direct benefit to patients participating in the Registry, entering your information will help address critical needs regarding the disorders:
1. Understand the spectrum of symptoms individuals may have and what causes them.
2. Focus research on identifying and preventing the effects of the disorders.
3. Speed research to find new ways to protect the brain and body from these effects.
4. Improve care and quality of life for everyone affected by the disorders.
How can I participate in the Registry?
Patients over the age of 18 who can understand the consent form (and do not have a legal guardian) can join the Registry on their own. Otherwise, the legal guardian, parent or custodian of the patient ( child under 18) must provide consent and enter information in the Registry for them. When the patient turns 18 and if they are able, consent can be obtained directly from them so they can continue their participation. Some adults with the disorder may need someone’s help to answer the questions – it’s okay to provide that help.
Will I need to provide the Registry with additional information in the future?
Yes. The Registry is most valuable for research when it is up-to-date. Your Registry profile can be updated whenever there is a change in the affected person’s health, medications or a new symptom. New sets of questions will periodically be added to the Registry to deepen the level of information being collected about the disorder and how it affects patients. New sets of questions should take less than 10 minutes to answer. We will notify you and remind you to update your profile. You will also be able to upload genetic testing and other relevant test results to your profile or fax them to the Research Coordinator to be entered manually.
The Registry will update you about new developments in the UCD or PA community, new research and clinical trials. Please update your profile if you move, change your email address or phone number. If the Registry cannot contact you, your profile becomes inactive.
Are there any risks to participating in the Registry?
There is a minimal risk associated with the loss of privacy or confidentiality. This risk is minimized by protections described in the sections below.
Are there any alternatives to being in the Registry?
No. Your only alternative is to not participate in this registry.
Are there any costs to me for participating in the Registry?
No, there are no costs to you for participating in this registry.
What happens to the information I put in my/my child’s profile and who has access to it?
The goal of the registry is to create a central bank of information that fosters research, while maintaining the highest standards for protecting your privacy. This is done by “de-identifying” the information you have entered. De-identifying data removes anything that could be used to identify you/your child, including name, address and other personal information. De-identified data shields the identities of the people the data is about, so that it cannot be traced to a person. De-identified data is usually just sets of numbers or statistics.
Any information that could identify you/your child will not be shared with anyone outside the Registry, unless you give your expressed permission to share it. Generally, only the Registry Coordinator will know that you have entered information or be able to see your contact information.
Data reports from the Registry will be made available to the UCD and PA community of patients, families, caregivers. You can log into your profile to see real-time overviews of de-identified data in the form of simple charts and graphs. For example, a chart might give information about the number of people in the Registry who have the same disorder, the same type of symptoms, or are taking a certain medication or using a specific formula. De-identified data will also be provided to the medical community in the hope that the information will lead to improvements in patient care and breakthroughs for new treatments.
How is my/my child's privacy protected?
The information you enter in the Registry will be maintained in a secure database stored on secure servers located in the USA. The Registry uses a web-based software program built by Innolyst, Inc./PatientCrossroads, a US software company. The program was designed in accordance with applicable US privacy protection provisions of HIPAA (Health Insurance Portability and Accountability Act of 1996). Innolyst, Inc. has developed and secured over 200 disease registries for the National Institutes of Health, patient advocacy groups, and other disease research organizations.
Any personal information that could be used to identify you or your family is labeled with a special code. The code is securely stored with a password. Only authorized Registry staff will be able to access the code and contact you if needed.
How is the information in the Registry shared with researchers?
The National Urea Cycle Disorders Foundation and the Propionic Acidemia Foundation are the guardians of the information contained within the Registry. A subset of de-identified information may be shared with other research databases to help develop global knowledge of UCD and PA that may lead to new research studies/clinical trials and improved care.
Qualified researchers can request de-identified data from the Registry. For example, a researcher may be interested in the number of patients who have a certain disorder and a particular symptom. The Registry Coordinator will perform a search of the “bank” of de-identified data in the Registry (such as disorder, symptoms, etc.) and provide these statistics to the researcher.
If a qualified researcher then wishes to set up a study, the researcher must have approval from an institutional review board (IRB) and comply with legal requirements for patient protection. All university medical research institutions have institutional review boards. An IRB is a formal committee that has been designated to approve, monitor and review research studies. The IRB protects the welfare of the research participants and performs important oversight functions to make sure that the proposed research is scientifically sound, ethical and performed in accordance with human subject protection regulations.
After IRB approval of the proposed study, if your profile matches the inclusion criteria, the Registry may contact you to provide you with information about the study. You can then choose to contact the researcher directly if you want to learn more. The Registry will not release your name to the researcher. If you choose to contact the researcher, they can answer any questions you have about the study and determine if you/your child are eligible to participate.
Your participation in the Registry does not guarantee that you will be accepted into any research study or clinical trial.
If I have already given information to other registries, doctors or researchers in the past, is it still OK to be in the Registry?
Yes, it is perfectly okay to join the Registry if you are already in another type of registry or research study. We plan to coordinate with other studies and organizations where possible. We will have checks and safeguards to help identify duplication of data. You/your child’s personal information in the UCD-PA registry will always remain protected.
Can I withdraw if I change my mind?
Your participation in the Registry project is entirely voluntary. You may withdraw your information from the Registry at any time without having to give any reason. Simply contact the Registry Coordinator, and your profile will be removed.
Who should I contact if I have any questions?
Please use the Glossary tab at the top of the page to look up any terms or words that you don’t understand. If you have other questions, the Registry Coordinator is available to help you. Click on the “Ask the Expert” link at the top of the page and type in your question.
If you have any questions about the registration process or about participation in the Registry, please contact the Registry Coordinator at
If you have questions about patient support groups or resources, please contact
If you have any questions or complaints about your rights as a research subject, contact:
By mail: Study Subject Advisor
Chesapeake Research Review, Inc
7063 Columbia Gateway Drive, Ste. 110
Columbia, MD 21046
or call collect: 410-884-2900
or by email:
Please reference the following number when contacting the Study Subject Advisor: Pro00007104