Abstract
Inspiring New Science to Guide Healthcare in Turner Syndrome (InsighTS) Registry is a national, multicenter registry for individuals with Turner syndrome (TS) designed to collect and store validated longitudinal clinical data from a diverse cohort of patients with TS. Herein, we describe the rationale, design, and approach used to develop the InsighTS registry, as well as the demographics of the initial participants to illustrate the registry's diversity and future utility. Multiple stakeholder groups have been involved from project conceptualization through dissemination, ensuring the registry serves the priorities of the TS community. Key features of InsighTS include recruitment strategies to facilitate enrollment of participants that appropriately reflect the population of individuals with TS receiving care in the US, clarity of data ownership and sharing, and sustainability of this resource. The registry gathers clinical data on diagnosis, treatment, comorbidities, health care utilization, clinical practices, and quality of life with the goal of improving health outcomes for this population. Future directions include multiple patient-centered clinical-translational research projects that will use the InsighTS platform. This thorough and thoughtful planning will ensure InsighTS is a valuable and sustainable resource for the TS community for decades to come.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 311-319 |
| Number of pages | 9 |
| Journal | American Journal of Medical Genetics, Part A |
| Volume | 194 |
| Issue number | 2 |
| DOIs | |
| State | Published - Feb 2024 |
Funding
The InsighTS Registry has received start-up funds from the advocacy organization Turner Syndrome Global Alliance (TSGA), Turner Syndrome Colorado, and University of Colorado School of Medicine, as well as institutional support from all of the sites involved. We are grateful to TSGA for their perseverance, leadership, and financial investment in InsighTS. We are thankful for all the TS advocacy organizations, including TSGA and Turner Syndrome Society of the US (TSSUS), that support the patient community and educate individuals with TS and their families on the value of research. The authors thank the participants who have enrolled in the InsighTS registry thus far and the families who have invested in this collaborative effort. We thank the coordinators and principal investigators at each participating institution who have helped with recruitment and TSGA for advertising the registry on their websites and social media platforms. In addition to contribution to the InsighTS Registry, several authors contribute to Turner syndrome industry studies including those sponsored by Ascendis (Shanlee M. Davis, Jennifer R. Law, Wendy J. Brickman, Iris Gutmark Little, and Karen O. Klein), Pfizer (Vaneeta Bamba), Lumos (Vaneeta Bamba), and Novo Nordisk (Iris Gutmark Little). These companies did not have any involvement in the development of the InsighTS Registry or preparation of this manuscript. Jennifer R. Law has received consultant funds from Ascendis. Siddharth K. Prakash is supported by a gift from the Turner Syndrome Society of the United States and a grant from the National Science Foundation (2129088). Catherina T. Pinnaro is supported by a K12 grant (HD27748). Shanlee M. Davis is supported by grants from NIH (NICHD and NIDDK), Boettcher Foundation, TSGA, and CU SOM Department of Pediatrics.
Keywords
- Turner syndrome
- health care outcomes
- monosomy X
- rare disease
- registry
- sex chromosome aneuploidy
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)