When we started the White Sutton Syndrome Foundation, we knew we needed a patient registry. Why? Because we were supposed to have one. Because many rare disease advocacy organizations had them. Because we wanted to know how many White-Sutton syndrome (WHSUS) patients were really out there.
In short, at the beginning we didn’t fully understand the usefulness of a patient registry, or why we should create one. It’s been an educational year though. We now have a much better understanding of the benefits of a registry, as well as the logistical challenges of creating a useful one – more on that below.
So why create a WHSUS registry? In one word, progress. Having a registry enables 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.
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 (NIH, n.d.), 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) (Workman TA, 2013). However, going beyond general contact information and collecting medical information meant we would have to adhere to very strict and unforgiving data privacy standards. This is a challenge we have acknowledged and accepted, and are working diligently to meet.
As we understand it today, WHSUS is a very rare disease. Exact numbers are hard to come by (although we hope to help remedy that with our registry) but estimates put the prevalence of WHSUS at less than 1 in a million individuals (Orphanet, n.d.). This creates a unique challenge for us: recruiting enough participants. This is something we are well aware of, and we plan to actively promote registry participation once we launch. However, this fact has also informed the process of selecting a patient registry platform partner. We elected to look only at registry platforms which were part of research networks. According to Workman (2013), such registries are “part of broader research collaboratives that connect individual registries into a larger network of registries that collect data on one or more conditions. The network provides a shared infrastructure and standardized data collection across registries.”
In a nutshell, rare diseases are rare. In order to be most effective, they have to band together. Collecting data on a small number of WHSUS individuals isn’t as useful, and isn’t likely to attract the attention needed to get the research ball rolling. So when it launches, The WHSUS registry will be equipped to contribute to research specifically for WHSUS, but will also be part of a larger data set that will enable registrants to participate in studies they qualify for that may not focus exclusively on WHSUS. This will make our registry more effective and useful to both patients and researchers.
We are in the final stages of selecting our registry platform now. We appreciate the patience of our community as we strive to put together the most effective registry we can. Look for more registry news in the coming weeks.
NIH (n.d.). Registries Come in a Variety of Shapes and Sizes, Retrieved from:
Workman, T. A.(2013). Engaging patients in information sharing and data collection: The role of
patient-powered registries and research networks [Internet]. Rockville (MD): Agency for Healthcare Research and Quality (US). Defining Patient Registries and Research Networks. Retrieved from: https://www.ncbi.nlm.nih.gov/books/NBK164514/
Orphanet (n.d.). Intellectual disability-microcephaly-strabismus-behavioral abnormalities
syndrome, Retrieved from: https://www.orpha.net