A registry will provide researchers with more and better data on patients living with Loeys-Dietz. As is, researchers rely on their own collection of data, using surveys for their sub-specialties and drawing from patients whom they can reach.
A registry would provide data on more patients. Combining data from patients anywhere, around the globe, is particularly important for rare diseases like Loeys-Dietz. It is hard to know exactly how many people live with Loeys-Dietz, but there are an estimated 450 "documented cases" with thousands of others being undiagnosed or misdiagnosed. Having data on more patients means researchers can increase the sample size for their studies and therefore the reliability of their findings.
A registry would also provide data on patients over time. Most of the available data on patients are like snapshots--they capture how patients are doing at a single point in time. A registry would capture data from patients repeatedly, so researchers could learn more about the effects and management of Loeys-Dietz over time.
As a result of a registry, researchers could do more of the kind of research that will lead to better understanding and management of Loeys-Dietz, research that can lead to real improvements in the quality of life of patients.
Setting up a registry is no easy feat. It will require understanding the data that researchers need, exploring different options for reliability (good quality data) and feasibility (easy to use and affordable), getting it set up and running, and disseminating it as broadly as possible. It is a daunting task. But one that will make a real difference to people living with Loeys-Dietz, and therefore well worth our every effort.
Of course, a Loeys-Dietz registry will only happen with your generous support. That is why over the coming months and years, we will be sharing with you our thinking and planning towards setting up the registry, in the hopes that you too will help advance our mission.