* Although the registry is currently available only in English, you may receive help from a trusted physician or family member to enter your information in English. If you have any questions, please contact CoRDS at firstname.lastname@example.org or 1-877-658-9192. **Associated conditions can be found in the CoRDS Questions section below.
If you have any questions, please contact email@example.com or 1-877-658-9192.
To enroll or update via paper/regular mail or to review the paper questionnaire now, reference the “Getting Started” section below.
Have questions about the White Sutton Syndrome registry? Some common questions and their answers are listed below. Still have questions? There is an upcoming session at White Sutton Together 2020 that might help – we’d love to see you there!
Our registry is a collection of standardized information about individuals with White-Sutton syndrome. Like our other foundation efforts, our primary goal when creating this registry has been to do it right. Simply gathering contact information – often referred to as a “contact” registry – while useful to us as an organization, wouldn’t be nearly as useful to researchers. So we elected to forego the contact registry in favor of something that would be more useful for research: a Patient-Powered Registry (PPR).
According to a publication from the Agency for Healthcare Research and Quality Research, “Experts agree that [patient-powered registries] are transforming patient/caregiver support and advocacy groups into research organizations. They also provide patients and family members another way to become engaged in research beyond the role of advisor or informant to researcher-generated studies.”
In one word, progress. Having a registry specifically for individuals with White-Sutton syndrome enables vetted researchers to have fast, secure access to useful medical data on many individuals with WHSUS. Since we will have already collected this data and obtained the necessary patient consent, researchers can begin to develop data-backed studies much more quickly, and more easily find and qualify participants for patient studies.
We have our own goals for this registry as well. In addition to recruiting patients for potential studies, in the immediate future we hope it will help us to provide more focused support to families. Over the long term, our goal is to begin to document trends across the WHSUS population as a whole, to facilitate quality research and treatment efforts and yes, to develop an official worldwide number of documented WHSUS cases.
Participating in the White Sutton Syndrome Foundation Registry at CoRDS is a great way for participants to take part in helping to identify the specific causes, symptoms and treatments of White-Sutton syndrome. When individuals complete the questionnaires, researchers will be able to compare their answers with those of hundreds, if not thousands, of others. The researchers will then be able to detect patterns, identify common symptoms, better define the disorder and gain insights into which potential treatments may work and which may not.
Any person diagnosed with White-Sutton syndrome or a general POGZ mutation can contribute valuable information and should participate. For example, researchers may want to determine which symptoms are more common to specific POGZ changes, as well as which symptoms affect everyone with WHSUS. Since most individuals with White-Sutton syndrome experience some level of developmental delay, their parents or legal guardians may submit information on their behalf.
Researchers have also begun to document a relationship between POGZ mutations (White-Sutton syndrome) and EHMT1 mutations (Kleefstra syndrome). Because of this, we have elected to allow individuals diagnosed with Kleefstra syndrome to enroll, in order to allow researchers the opportunity to further explore this relationship if needed.
Internet polls, questionnaires, and surveys are often used to quickly and easily collect information from respondents. However, in order to publish their results, researchers must only use information obtained in a very specific manner. The patient data they use must have documented informed consent from patients and must adhere to privacy regulations. CoRDS has worked hard to ensure that researchers can use the information you provide.
They submit every registry to their Institutional Review Board (IRB) for approval. The IRB at Sanford Research approved not only the CoRDS registry questionnaire, but also the White-Sutton syndrome questionnaire. Researchers requesting to use the information in the registry must first obtain approval from their own IRBs and then a second approval from the Sanford IRB.
Informed consent also safeguards participant data. When signing up to participate in CoRDS, participants (or their representatives) are given a chance to read information about the registry, and then sign a form indicating that they understand what they are doing. Participants can sign this form either electronically with a pen, if completing the paper version of the registry. For any questions, participants can call or send an email to CoRDS before they sign the consent form.
The information provided in the registry is kept strictly confidential. The questionnaires that you complete will never be associated with your name. Instead, an anonymous ID number is assigned to your identifiable information (name, address, etc.) and to the responses you provide in the questionnaires. Your identifiable information is then stored in one database, while your responses, tagged only with the ID number, are kept in a separate database. Once researchers receive approval to look at the registry or questionnaire responses, they will be given only the anonymous data found in the second database. The White Sutton Syndrome Foundation can only access your anonymous information if you choose to share it with us when you complete your registry questionnaire.
Participant privacy is also protected even if they indicate that they are willing to be contacted to participate in additional research. For example, researchers might contact CoRDS and indicate that they want to ask for additional information from all participants who have a specific symptom, such as cyclic vomiting. CoRDs personnel would then contact every participant in the registry who indicated that they experienced cyclic vomiting and who also indicated that they would like to participate in additional studies. CoRDS would then provide these people with the researchers’ contact information, and it would be up to the individual participants whether they contact the researchers to participate in additional research.
Updates can be done any time and should only take 10-15 minutes, as there are no new questions at this time. But updates should be done at least annually, after any significant change in the participant’s medical history, and immediately after their 18th birthday. If the participant was enrolled in the registry as a minor, their data becomes inaccessible 30 days after their 18th birthday unless and until they are re-enrolled.
Complete the activation form by answering each question and clicking SUBMIT at the bottom of the page. You will then be directed to the Login Setup screen.
On this screen, a username will be generated for you based on your name. You will also be asked to create a password and set up a security question. After you create a password and set up a security question, you then click the login button to be logged in to your CoRDS Patient Registry Profile in order to begin the questionnaire.
Once you have logged into your CoRDS Patient Registry Profile, you are now ready to begin the CoRDS Patient Registry Questionnaire. To do so, click “START QUESTIONNAIRE” near the top of the screen. Throughout the questionnaire, you should click on the SAVE & NEXT button in the upper right-hand corner of the screen to proceed to the next set of questions.
You will also be asked the participant’s age at the onset of symptoms. A good place to find this is on official test results within your medical documentation. If you need help, you can use our age calculator here.
IMPORTANT: In order to access the White Sutton Syndrome Foundation registry, you will need to enter an appropriate diagnosis. At this time, an “appropriate diagnosis” includes White-Sutton syndrome (otherwise known as Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, WHSUS or POGZ mutation), Autism spectrum disorder due to a POGZ deficiency, or Kleefstra Syndrome (otherwise known as 9q34.3 deletion syndrome, 9q-Syndrome, 9q34.3 microdeletion syndrome or 9qSTDS).
Once you’ve completed the CoRDS questionnaire, you’re ready to move on to questions specific to White-Sutton syndrome!
Please remember that you can save the questionnaire at any point, close out and log back into the registry at a later date (remember to record your username and password). Even if you have clicked SUBMIT at the end of the questionnaire, you can go back at any time and update your answers.
If you encounter difficult questions, please feel free to move on to other questions and come back to more difficult ones later. Some find it easier to go through the entire questionnaire answering “easy” questions first and noting which questions they need more time to answer.
IMPORTANT: Because you can move onto the next page before answering all of the questions on the current page, be sure to review your answers or make note of which questions have not been answered before saving and clicking to the next page. (You can always go back to finish any unanswered questions later).
Lastly, depending on the diagnoses you entered, you might be invited to participate in additional questionnaires from other organizations. It is entirely optional for you to complete such questionnaires.
Once you’ve answered every question to the best of your knowledge and clicked SUBMIT at the end of the questionnaire, you’ve completed the White Sutton Syndrome Foundation’s CoRDS Patient Registry! You can still update your answers at any time.
Download Your ReminderPlease plan to update the participant’s questionnaire at least annually as well as after any significant changes in their medical history and immediately following their 18th birthday. Please download your reminder now, and then congratulate yourself for making an important contribution to White Sutton Syndrome progress!
On behalf of the White Sutton Syndrome Foundation, thank you for taking the time to help further knowledge of this condition.
So far there are only a few participants in the White-Sutton syndrome registry. Please consider registering – every participant makes the collected data more valuable to researchers and helps us develop a better profile for this disease.
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