The Orphan Disease Center's efforts in building an International CDKL5 Patient Registry were reviewed and approved by an External Advisory Committee. See here for an Executive Summary of the Committee's report.
PLEASE NOTE: The goal of this regisry is to share data collected from rare disease patient and families for research and clinical development purposes. Participation in this registry will require your consent to share your data. You will have a chance to read the full terms and conditions in the Informed Consent Form at the end of registration.
Q: Can you explain the purpose of your registry?
A: The CDKL5 Patient Registry initiative seeks to:
• Characterize the spectrum of symptoms and heterogeneity of disease presentation
• Establish rate of disease progression in the context of standard-of-care
• Inform clinical study design through endpoint validation
• Enable rapid clinical trial launch through site engagement and patient engagement
Q. Is the registry available internationally, and are ESL (English as second language) participants welcome?
A: Yes. The registry will be international. Initially, the registry will only be available in English. We welcome anyone who is comfortable answering the questions in English. Participants will be asked about their language preferences in the registry, and this will help inform us in deciding which language translations are needed. We will continue to add translations over the life of the registry.
Q: What happens when I join the registry?
A: When you click the “Enroll in the Registry” link above, you will be directed to the homepage for the CDKL5 Deficiency Disorder Patient Registry. You will answer a series of questions in order to create an account – this process takes less than 5 minutes. Once completed, you will receive an automated email from “firstname.lastname@example.org” (the registry platform developer) containing a link to create a password for your account. To ensure the email does not go to your spam folder, please add it to the address book in your email account. Once logged in, please complete the Informed Consent process, found under the “Consents” tab on the left side menu of your account dashboard. The Informed Consent process must be completed before you can begin completing surveys. Each survey takes less than 20 minutes to complete, but varies depending on the patient’s history and the type of survey. If you have questions or feedback, please email ODCRegistry@pennmedicine.upenn.edu.
Q: Can you explain how the registry will work with the existing registries?
A: We are working with the leaders of other registries to integrate data sharing mechanisms if and when the family wants to participate and share data between the two efforts. Both registry efforts are important and complimentary to one another, but inherently different in the approach, type of information and ways in which information is collected. Participation in both is encouraged but not required by either registry.
Q: Why should you participate in an ODC registry?
A: By sharing and allowing your data to be combined in a registry with other patients like you, researchers can better understand your rare disease. Importantly, the value of patient-reported data is now recognized among the medical and scientific communities as a key factor in ensuring outcomes that are meaningful to patients. Data collected in the ODC registries will be made available to researchers hoping to develop treatments and positively impact rare disease communities.
Q: Is this registry HIPAA and GDPR compliant?
A: Yes, the registry is both HIPAA and GDPR compliant. The registry study overall was approved by the University of Pennsylvania Institutional Review Board on March 1, 2018. All Orphan Disease Center study staff are trained on Good Clinical Practices, the international standard for conduct of research involving humans.
Q: Are there additional resources to learn about your efforts?
A: See here for an infographic video about the ODC registries.