Registry for Patients

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.