Turner Syndrome Foundation
The future of Turner syndrome research is in the hands of the patient community. The Turner Syndrome Foundation, in collaboration with Invitae Patient Insights Network (PIN), has established a TSRX PIN to assist the patient community in assisting the scientific community in creating an inclusive global data registry on TS; the biggest in the world. TS is an under researched condition, meaning that there is still so much more for healthcare practitioners to know in order to best help their patients. This is why TSRX is so important: it addresses this issue by listening to the experiences of people with TS to improve patient-centered research and care of this condition. What is TSRX? Read on to find out more about this program and how YOU can help increase our understanding of TS!
What is TSRX?
TSRX (Turner Syndrome Research Exchange Clinical Registry) is a global data set that aids in research on Turner Syndrome. It is TSF’s Patients Insights Network (PIN) that we have in collaboration with the Invitae corporation, a biotechnology company that specializes in researching genetics to improve healthcare.
TSF has partnered with Invitiae in order to expand research on TS (Turner syndrome), which is an under researched condition. TSF has had a long-standing relationship of collaborating with Invitae and is proud to support this relaunch and their efforts in research. Registering for TSRX is important because the more participants that join, the more data on TS that will be available to researchers. This makes researchers’ work easier and more accurate for patients with TS. This, in turn, means better care for patients with TS.
You may be familiar with the TSF Patient Registry. TSRX is not the same as the Turner Syndrome Foundation Patient Registry. TSRX is a patient-driven registry that exists on a global scale, while the TSF Patient Registry is an internal registry within the foundation.
The information that you provide through TSRX.us will inform clinical researchers about your experience as a patient or caregiver of TS. Collectively with other individuals from around the world, this global dataset for clinical research projects will be the largest patient driven data set about the common, and perhaps not so common, issues of TS. Clinical research projects rely on data collected from patients to better understand TS and how to best treat it. In addition, PINs help pharmaceutical companies find better treatments faster and help advocacy organizations, like TSF, better understand the needs of the community they serve. Our goal is to create the largest database of information about TS patients!
How Do I Participate and What Does It Involve?
Registering for TSRX is a safe and easy process that begins by visiting the TSRX.us webpage and clicking the “Sign Up” button in the top right corner. Registering creates a PIN for you. Part of this will also be a first survey to gather general information about your experience as a TS patient. Patients are able to create a PIN for themself, or parents can create one to enter information on behalf of a minor. At age 18, the account can be transferred from the parent to the patient, so at that point the patient can enter their own information.
Once you get a registry set up, you can continue – or “Sign In” again later – and take more surveys. You can also receive updates to let you know when a new survey is available. The topic of each of these surveys focuses on a specific organ section that pertains to TS. We know that TS presents differently in each patient, so some surveys may apply and be of more interest to some while others may apply to and be of interest to others. Surveys on growth, heart, kidney, endocrine, vision, hearing, and the musculoskeletal system are just a few of the options. The more surveys you complete, the more information and data you provide. Think of each survey you complete as a contribution to research that will help to better understand, diagnose, and treat TS. If interested, participants can also opt in to receive information about research opportunities and clinical trials that match their responses.
One of the great things about TSRX is that patients and caregivers can learn how others are managing their Turner syndrome journey by exploring de-identified data submitted by others. This allows you to learn more about TS and how to approach certain TS-related challenges quickly and easily!
What About Data Privacy and Security?
When you create a PIN, you create a username and password. This not only helps to limit who has access to your personal information, but also protects your privacy. Personally identifying information is not shared with other users without your consent or request. Your data and information is deidentified and safeguarded as it is shared.
One item of note is that you can vary your sharing preferences as you take surveys. Are you an open book about your growth issues? Share away! Are you less comfortable sharing about heart issues? Keep it private, too!
The data you provide is just that – yours. You can also opt out of the registry if you’d like. Furthermore, since the data is online and accessible through a website, the information and data can be provided or updated in real time at any time from wherever there is online access. You can also contact the coordinator at Invitae if you have any further questions.
Why Should I Participate?
“Research is the foundation of improving medical care for girls and women with Turner syndrome. Thank you for taking the time to consider filling out these surveys – self-reported information about your medical care and experiences is crucial for researchers to understand where gaps in Turner syndrome-specific care exist so that we can work to improve this. I am interested in how diabetes affects girls and women with Turner syndrome. There is currently no available information about what specific medications people with Turner syndrome are started on for treatment of diabetes, which makes it hard to study the effectiveness of these treatments. By sharing your medical information, we will be able to understand how medical providers are approaching diabetes in individuals with Turner syndrome and hopefully help improve this.”
The biggest reason to participate is because it contributes to a better understanding of TS, and subsequently, better patient-centered care for TS patients. Patients’ experiences with Turner syndrome can provide vital insight into the treatments, care options, and progression of Turner syndrome. For a complex condition like Turner syndrome, the patient’s voice is a crucial part of research.
While TSF primarily advocates for TS, Invitae is working with many other advocacy organizations as well. TSF would love for you to “help us help them”!
Another member of TSF shared her insight as to why it is important for women with TS to participate in this relaunch:
“TS is currently under researched and needs to be understood better by the healthcare sector. Your participation in TSRX will allow researchers to better understand TS as a medical condition, as well as the needs and interests of people with TS. This can improve medical care and treatment for people with TS.”
The TSRX.us research is vital to furthering medical research about TS and improving care for the TS community. This is your time to influence the future of TS patient care!
Are There Other Incentives to Participate?
Yes! TSF is awarding a prize for one person who creates a new registry and for one person who completes each of the new surveys. So more surveys means more chances at winning!
We at TSF are excited about this relaunch and hope you’ll join us in improving our understanding of TS!
Take Action for TS Research and Register for TSRX Now!
For further questions, contact the coordinator at Invitae at coordinator@pin.invitae.com
Other Research Opportunities
Written by Helen Rhoads, TSF volunteer blog writer. Edited and designed by Catherine Melman-Kenny, TSF Blog Coordinator.
© Turner Syndrome Foundation, 2023
